Symptoms and causes - Paget's disease of bone - Mayo Clinic Paget's disease of bone Print Symptoms Most people who have Paget's disease of bone have no symptoms. When symptoms occur, the most common complaint is bone pain. Because this disease causes your body to generate new bone faster than normal, the rapid remodeling produces bone that's softer and weaker than normal bone, which can lead to bone pain, deformities and fractures. The disease might affect only one or two areas of your body or might be widespread. Your signs and symptoms, if any, will depend on the affected part of your body. Pelvis. Paget's disease of bone in the pelvis can cause hip pain. Skull. An overgrowth of bone in the skull can cause hearing loss or headaches. Spine. If your spine is affected, nerve roots can become compressed. This can cause pain, tingling and numbness in an arm or leg. Leg. As the bones weaken, they may bend — causing you to become bowlegged. Enlarged and misshapen bones in your legs can put extra stress on nearby joints, which may cause osteoarthritis in your knee or hip.

When to see a doctor Talk to your doctor if you have: Pain in your bones and joints Tingling and weakness Bone deformities Causes The cause of Paget's disease of bone is unknown. Scientists suspect a combination of environmental and genetic factors contribute to the disease. Several genes appear to be linked to getting the disease. Some scientists believe Paget's disease of bone is related to a viral infection in your bone cells, but this theory is controversial. Risk factors Factors that can increase your risk of Paget's disease of bone include: Age. People older than 40 are most likely to develop Paget's disease of bone. Sex. Men are more commonly affected than are women. National origin. Paget's disease of bone is more common in England, Scotland, central Europe and Greece — as well as countries settled by European immigrants. It's uncommon in Scandinavia and Asia. Family history. If you have a close relative who has Paget's disease of bone, you're more likely to develop the condition. Complications In most cases, Paget's disease of bone progresses slowly. The disease can be managed effectively in nearly all people. Possible complications include: Fractures and deformities. Affected bones break more easily.

Extra blood vessels in these deformed bones cause them to bleed more during repair surgeries. Leg bones can bow, which can affect your ability to walk. Osteoarthritis. Misshapen bones can increase the amount of stress on nearby joints, which can cause osteoarthritis. Heart failure. Extensive Paget's disease of bone may force your heart to work harder to pump blood to the affected areas of your body. In people with pre-existing heart disease, this increased workload can lead to heart failure. Bone cancer. Bone cancer occurs in less than 1 percent of people with Paget's disease of bone. Questions and Answers about Paget's Disease of Bone Questions and Answers about Paget's Disease of Bone Related Resources Print-Friendly Page June 2014 This publication contains general information about Paget's disease of bone. It describes what Paget's disease is, its causes, and treatment options. Highlights of current research are also included. At the end is a list of key words to help you understand the terms used in this publication. If you have further questions, you may wish to discuss them with your health care provider. What Is Paget's Disease of Bone?

Paget's disease of bone is a chronic disorder in which excessive breakdown and formation of bone tissue can lead to bone enlargement, weakening, and fractures, as well as pain and arthritis in the joints near the affected bones (see box " Bone Biology "). Recommended Calcium and Vitamin D Intakes Unlike some other bone diseases, which affect all of the bones of the body, Paget’s disease typically affects just one or a few bones. The most commonly affected bones are those of the pelvis, skull, spine, and legs. A less common form of Paget’s disease, called early-onset familial Paget’s disease of bone, shows up in a person’s teens or twenties. The early-onset form is similar to the classic form of the disorder except that it is more likely to affect the skull, spine, ribs, and small bones of the hands. It is also associated with hearing loss early in life. Bone Biology Just because you have stopped growing taller, doesn’t mean your bones have stopped growing. Bone is living tissue that goes through a constant process of growth and renewal, called remodeling. This process, which is designed to supply the body with strong, healthy bone for a lifetime, occurs in two stages: bone resorption and bone formation.

During resorption, cells called osteoclasts on the bones’ surface absorb old bone, creating small holes in the bone. During formation, the holes are systematically filled by bone-forming cells called osteoblasts. When the process is working as it should, resorption and formation are balanced and responsive to the stresses placed on the bone. Much like muscles, bones that are worked grow stronger to meet the demands placed on them. In Paget’s disease, however, this process is disrupted. Early in the disease process, bone resorption begins to outpace bone formation—old bone breaks down faster than new bone is built. Over time, your body overcompensates by speeding up bone formation. The new bone that is formed is abnormally large, weak, brittle, and prone to fractures. What Are the Symptoms of Paget’s Disease? For many people, Paget’s disease causes no symptoms. Some people have symptoms, but attribute them to other causes. Often people don’t realize they have the disease until they see a doctor about complications from it. Symptoms, when they occur, can include: Pain, which may occur in any of the bones affected by the disease.

Pain may also occur in the joints close to the affected bone, if changes in the bone affect joint function or put excess stress on the joints. Headaches and hearing loss, caused by involvement of the skull or, in the case of hearing loss, the bone surrounding the inner ear. Tingling and numbness in arms and legs, due to pressure on nerves caused by enlarged vertebrae. Bone changes, such as increased head size, bowing of a limb, or curvature of the spine. Symptoms get worse slowly, and the disease does not spread to other bones. Beyond Bones: How Other Parts of the Body Can Be Affected by Paget’s Disease Although Paget’s is a disease of bone, its complications can affect other body parts and functions, as well. Following are some of the possible complications. Joint damage. Involvement of the bones can put stress on nearby joints causing the joint cartilage to break down. This can lead to osteoarthritis, a form of joint disease in which the cartilage wears away, leading to pain, stiffness, and the formation of bony outgrowths called spurs. Heart failure.

If Paget’s disease is extensive, the heart may have to work harder to pump blood to the affected areas. For people who have pre-existing heart disease, this added work can lead to heart failure, a condition in which the heart is unable to deliver enough blood to meet the body’s needs. Hearing or vision loss. When Paget’s disease affects the skull and bone surrounding the inner ear, hearing loss may occur in one or both ears. In rare cases, skull involvement may affect the nerves to the eyes, causing some loss of vision. Kidney stones. Kidney stones, which are rock-like masses of minerals, primarily calcium, that form in the urinary tract, are more common in Paget’s disease. Drinking a lot of water may help prevent them. Pinched nerves. When Paget’s disease affects the bones of the spine (vertebra), the excess growth can pinch the nerves in the spinal column. This can lead to shooting pain, numbness, or tingling in the extremities. Dental problems. If Paget’s disease affects the facial bones, this can lead to loosening of the teeth and potential tooth loss. Who Gets Paget’s Disease?

Uncommon in people under age 40, Paget’s disease grows more common with age. The condition is more common in people of Anglo-Saxon descent in certain geographical areas including England, the United States, Australia, New Zealand, and Western Europe. It is not common in Scandinavia, China, Japan, or India. Paget’s disease tends to occur in families. Research suggests that having a close relative with Paget’s disease makes you 7 to 10 times more likely to develop the disorder than someone without an affected relative. What Causes Paget’s Disease? Doctors do not know the exact cause of Paget’s disease, but the fact that the condition tends to run in families suggests that genes play a role. Several genes have been identified that appear to increase a person’s chances of having the disease. However, genes alone are unlikely to cause the disorder. Though it has not been proven definitively, many doctors believe that something in the environment contributes to the development of Paget’s disease in people who are genetically predisposed. Some scientists are studying the possibility that a slow-acting virus may cause Paget’s disease. How Is Paget’s Disease Diagnosed?

A diagnosis of Paget’s disease is often made or confirmed by x ray. X rays of bone affected by Paget’s often show characteristic features. These may include a classical v-shaped pattern between healthy and diseased long bones, known as the blade of grass lesion, and patches of bone thickening, typically in the skull, referred to as the cotton wool pattern because of its poorly defined and fluffy appearance on x ray. Other tests used in the diagnosis of Paget’s disease are: Alkaline phosphatase blood test. This test is used to measure levels of serum alkaline phosphatase (SAP), a type of enzyme made by bone cells and overproduced by bones affected by Paget’s disease. Although there are several possible causes for a mild elevation in SAP, a level that is greater than twice the usual level strongly suggests Paget’s. Bone scan. A bone scan is a test in which a small amount of radioactive dye is injected into a vein in the arm. The dye circulates through the bloodstream and collects in areas where there is increased blood flow and activity of bone-forming cells characteristic of Paget’s disease. A special camera scans the bones, detecting areas where the dye has collected.

If a scan suggests Paget’s disease, x rays may be used to confirm the diagnosis. Bone scans may also be used to determine the extent and activity of the disorder. Bone biopsy. In rare cases, doctors remove a small sample of bone (called a biopsy) and examine it under a microscope. Biopsies may be performed if x rays fail to confirm or refute a Paget’s diagnosis. Biopsies may also be used to rule out bone cancer. What Type of Doctor Diagnoses and Treats Paget’s Disease? Paget’s disease is often diagnosed and treated by endocrinologists or rheumatologists. Endocrinologists are doctors who specialize in diagnosing and treating hormonal conditions. Rheumatologists are doctors who specialize in disorders of the joints, connective tissues, and muscles. Other doctors may treat different specific symptoms or complications of Paget’s disease. These include: Orthopaedic surgeons, who specialize in diagnosing, treating, and preventing injuries and disorders of the musculoskeletal system, which includes bones, joints, ligaments, muscles, nerves, and tendons. Neurologists, who are trained to diagnose and treat disorders of the nervous system, which includes the brain, spinal cord, nerves, and muscles.

Otolaryngologists, who specialize in conditions of the ear, nose, and throat. What Is the Treatment for Paget’s Disease? The goals of Paget’s disease treatment are to control excessive bone breakdown and formation, reduce the risk of complications, and ease bone and joint pain. In more severe, advanced cases it may also involve repairing fractures, correcting bone deformity, and replacing joints damaged by the disease. Treatment includes the following: Medications Several types of medications may be used in Paget’s disease treatment. 1 They include: Bisphosphonates. The most commonly used medications for Paget’s disease are drugs from a class called bisphosphonates. Used to treat a variety of bone diseases, bisphosphonates work by controlling the excessive bone breakdown and formation that occurs in Paget’s disease. A number of bisphosphonates are FDA-approved for treating the disorder. Depending on the bisphosphonate prescribed, you may take it by mouth in a tablet form or through an intravenous (IV) infusion in your doctor’s office. Calcitonin.

Derived from salmon, calcitonin is similar to a hormone made by the thyroid gland that regulates blood levels of calcium and phosphate and promotes the formation of new bone. Calcitonin approved to treat Paget’s disease is available by injection. Although less effective and less commonly used than bisphosphonates, calcitonin may be appropriate for certain patients. 1All medicines can have side effects. Some medicines and side effects are mentioned in this publication. Some side effects may be more severe than others. You should review the package insert that comes with your medicine and ask your health care provider or pharmacist if you have any questions about the possible side effects. Pain Relievers Several over-the-counter (OTC) medications may help ease the pain associated with Paget’s disease. For more severe pain that does not respond to OTC medications, doctors may recommend a prescription pain reliever. Surgery Although medications can often regulate bone growth and minimize complications, surgery may be necessary to correct problems that result from irregular bone growth, including: Fractures. If fractures are displaced, meaning the ends of the bones where the break occurred are no longer aligned, surgery may be necessary to position the bones so they can heal. Arthritis.

If changes in the bones place stress on adjacent joints, the cartilage that normally cushions the ends of the bones can wear away, leaving bone rubbing against bone. When this occurs, surgery to replace the damaged joint with an artificial one may ease pain and decrease disability. Hips and knees are the most commonly replaced joints. Bone deformity. When changes in a bone place added stress on a weight-bearing joint, a surgeon may perform a procedure called an osteotomy. This procedure, which involves cutting and realigning a bone, can be useful for reducing pain in the affected joint, usually a knee. Pinched nerves. Less commonly, a doctor may do surgery to remove bone overgrowth that is pinching a nerve in the spine. Because blood flow to the bones can be increased in Paget’s disease, medical treatment may be needed to decrease bleeding before surgery. You should discuss any needed medical treatment with your doctor before planning surgery. Besides Medical Treatment, What Can I Do to Help Prevent Complications? Aside from following your doctor’s prescribed treatment, there are things you can do to be healthier and help reduce risk of complications. Here are some to do now: Eat well.

Although there is no special diet to prevent or treat Paget’s disease, a healthy diet is important for good health. It is important for your diet to include adequate amounts of calcium and vitamin D, which helps your bones use calcium. Calcium and vitamin D needs change during your lifetime (see table “ Recommended Calcium and Vitamin D Intakes ”). If you are uncertain whether you are getting enough calcium and vitamin D, speak with your doctor, who may recommend calcium and/ or vitamin D supplements. If you have a history of kidney stones, you should also discuss calcium and vitamin D intake with your doctor. Recommended Calcium and Vitamin D Intakes Life-stage group Definitions: mg = milligrams; IU = International Units Source: Food and Nutrition Board, Institute of Medicine, National Academy of Sciences, 2010. Exercise regularly. Regular physical activity is important for building strong muscles and bones, maintaining joint mobility, and improving balance and coordination. To build strong bones, you must get plenty of weight-bearing exercise, or exercise in which the legs bear the body’s weight. Walking, jogging, jumping rope, and dancing are examples of weight-bearing exercise. Strength training is important to strengthen the muscles that support the joints.

Exercises that promote balance and coordination, such as Tai Chi, can help reduce your risk of falling and breaking a bone. Your doctor or a physical therapist can help you develop an exercise plan that provides the benefits you need without stressing affected bones. Maintain a healthy weight. Maintaining a healthy weight is particularly important if Paget’s has led to arthritis of the weight-bearing joints, such as the hip or knee. Excess weight can mean more stress—and pain—for affected joints. Avoid falls. When Paget’s disease causes bones to be fragile, even a minor fall can cause a painful fracture. Although exercising to improve muscle strength, balance, and coordination is one of the best ways to reduce your risk of falling, your doctor can give you other advice for preventing falls. This may include walking with a cane or walker and taking steps to make your home safer, such as: installing grab bars and using nonskid mats in your tub or shower placing items you use frequently on low shelves to avoid the need to climb or use a step stool securing or removing throw rugs, power cords, and other items that could cause you to trip installing hand rails on stairways and lights in stairways and hallways. Seek support.

Although it is important to take care of yourself physically when you have Paget’s disease, it is important to take care of yourself emotionally, too. Living with a chronic disease can be stressful. Many people with chronic diseases like Paget’s find it helpful to speak with a social worker, counselor, or other mental health professional, or with other people who have the same condition. Your doctor will be able to help you find a counselor who works with people with chronic diseases or may be able to direct you to a support group. What Is the Prognosis for People Who Have Paget’s Disease? Paget’s disease is rarely fatal. For most people with the disorder, the prognosis is good, particularly if they begin treatment before major changes have occurred in the affected bones. Because early diagnosis and treatment is important to minimize complications, doctors may recommend that family members of people with Paget’s disease (who face an increased risk of the disorder themselves) have an alkaline phosphatase blood test every 2 to 3 years beginning around age 40. If the level is elevated, suggesting possible Paget’s disease, bone scans or x rays may be used to verify the diagnosis, so that treatment can begin early in the disease process.

Although treatment is effective at controlling symptoms and minimizing the risk of complications, it cannot cure Paget’s disease. A small percentage of people with Paget’s disease—perhaps less than 1 in 1,000—develop a rare type of bone cancer called osteosarcoma, which may be treated with surgery, radiation, and/or chemotherapy. What Research Is Being Conducted on Paget’s Disease? Researchers are working to identify the most effective and safe treatments for Paget’s disease and looking for new targets for drug therapy. Researchers are also beginning to target factors that link bone resorption (or breakdown) and bone formation, two processes that must work in concert to provide us with healthy bones (see box “Bone Biology” ). In Paget’s disease, the processes of bone resorption and formation remain coupled, but both proceed at abnormally high rates, producing excessive bone of poor quality. Scientists are also continuing to examine the causes and mechanisms of Paget’s disease, including the genes that are involved. Identifying and better understanding the genes involved in the disease could help doctors predict who may be at risk for it and could lead to the development of specific therapies not only to slow damage, but perhaps to stop and could even reverse the damage.

The role of environmental factors—such as viruses—in the development of Paget’s is just beginning to be clarified. Researchers are exploring whether such factors contribute to the development of the disease in people who are genetically predisposed. More information on research is available from the following websites: NIH Clinical Research Trials and You was designed to help people learn more about clinical trials, why they matter, and how to participate. Visitors to the website will find information about the basics of participating in a clinical trial, first-hand stories from clinical trial volunteers, explanations from researchers, and links on how to search for a trial or enroll in a research-matching program. ClinicalTrials.gov offers up-to-date information for locating federally and privately supported clinical trials for a wide range of diseases and conditions. NIH RePORTER is an electronic tool that allows users to search a repository of both intramural and extramural NIH-funded research projects from the past 25 years and access publications (since 1985) and patents resulting from NIH funding. PubMed is a free service of the U.S.

National Library of Medicine that lets you search millions of journal citations and abstracts in the fields of medicine, nursing, dentistry, veterinary medicine, the health care system, and preclinical sciences. Where Can People Find More Information About Paget’s Disease? National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) 1 AMS Circle The Paget Foundation for Paget’s Disease of Bone and Related Disorders Website: Key Words Alkaline phosphatase blood test. A test that measures blood levels of an enzyme made by bone cells and overproduced by bones affected by Paget’s disease. A highly elevated level of this enzyme may indicate a diagnosis of the disorder. Bisphosphonates. A type of medication that works to control excessive bone breakdown and formation that occurs in Paget’s disease. Bisphosphonates are commonly used medications to treat Paget’s disease. Blade of grass lesion. A v-shaped pattern between healthy and diseased long bones that may show up on x rays in people with Paget’s disease. The presence of the pattern is useful in diagnosing the disorder. Bone biopsy. A test in which a small sample of bone is removed and examined under a microscope.

Biopsies are sometimes used to confirm a diagnosis of Paget’s disease or to rule out bone cancer. Bone scan. A test in which a small amount of radioactive dye is injected into a vein in the arm and allowed to circulate through the bloodstream. A special camera is then used to scan the bones and detect areas of increased blood flow or bone-forming cells. Bone scans may be used to diagnose Paget’s disease and to determine its extent and activity. Calcitonin. A medication derived from salmon. It is similar to a hormone made by the thyroid gland that regulates blood 18 levels of calcium and phosphate and promotes the formation of new bone. It is sometimes used in Paget’s disease treatment. Cotton wool appearance. A fluffy, poorly defined patch on an x ray, typically of the skull, due to bone thickening. Its appearance is useful in the diagnosis of Paget’s disease. Endocrinologist. A doctor who specializes in the diagnosis and treatment of conditions involving hormones and metabolism. Endocrinologists commonly treat Paget’s disease. Heart failure. A condition in which the heart is unable to deliver enough blood to meet the body’s needs.

In people with extensive Paget’s disease, the heart may have to work harder to pump blood to affected areas of the body. If the heart is already damaged, the increased workload may lead to heart failure. Osteoarthritis. A joint disease that occurs when the cartilage that cushions the ends of the bones where they meet to form joints wears away, leading to pain, stiffness, and the formation of bony outgrowths called spurs. Osteoarthritis is a common long-term complication of Paget’s disease. Osteoblasts. Bone-forming cells. In Paget’s disease, overactivity of osteoblasts leads to bone that is abnormally large, weak, and brittle. Osteoclasts. Cells on the bones’ surfaces that absorb old bone, creating small holes in the bone to be filled by bone-forming cells called osteoblasts. Orthopaedic surgeon. A doctor who specializes in the diagnosis, treatment, and prevention of injuries, disorders, and diseases of the musculoskeletal system, which includes bones, joints, ligaments, muscles, nerves, and tendons. Osteosarcoma. A rare type of bone cancer that can occur as a complication of Paget’s disease.

It is estimated to affect less than 1 in 1,000 patients with Paget’s disease. Otolaryngologists. Doctors who specialize in the diagnosis and treatment of conditions of the ear, nose, and throat. People with Paget’s disease may see an otolaryngologist for some of the complications of their disease. Rheumatologists. Doctors who specialize in diagnosing and treating disorders of the joints and muscles. X ray. A test in which an x-ray beam is passed through the body to create a two-dimensional picture of the bones. X rays are used to diagnose Paget’s disease. Acknowledgments The NIAMS gratefully acknowledges the assistance of the following individuals in the preparation and review of the original version of this publication: Kenneth W. Lyles, M.D., Professor of Medicine, Duke University and VA Medical Centers, Durham, NC; G. David Roodman, M.D., Ph.D., Professor of Medicine and Vice Chair for Research, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA; Charlene Waldman, Executive Director, The Paget Foundation, New York, NY; Joan A.

McGowan, Ph.D., Director, Division of Musculoskeletal Diseases, NIAMS/NIH; and William J. Sharrock, Ph.D., Director, Integrated Physiology and Genetics of Bone Program, Division of Musculoskeletal Diseases, NIAMS/NIH. For Your Information This publication contains information about medications used to treat the health condition discussed here. When this publication was developed, we included the most up-to-date (accurate) information available. Occasionally, new information on medication is released. For updates and for any questions about any medications you are taking, please contact U.S. Food and Drug Administration Toll Free: 888–INFO–FDA (888–463–6332) Website: For additional information on specific medications, visit Drugs@FDA at . Drugs@FDA is a searchable catalog of FDA-approved drug products. For updates and questions about statistics, please contact: Centers for Disease Control and Prevention, National Center for Health Statistics Paget Disease - National Library of Medicine - PubMed Health About the Bone About Paget Disease of the Bone Paget's disease is a chronic disorder that can result in enlarged and misshapen bones .

The excessive breakdown and formation of bone tissue causes affected bone to weaken—resulting in bone pain, misshapen bones, fractures, and arthritis in the joints near the affected bones. Paget's disease typically is localized , affecting just one or a few bones, as opposed to osteoporosis , for example, which affects all the bones in the body. Scientists do not know for sure what causes Paget's disease. In some cases, the disease runs in families, and so far two genes have been identified that predispose affected people to develop Paget's disease. In most cases, however, scientists suspect that environmental factors play a role. For example, scientists are studying the possibility that a slow-acting virus may cause Paget's disease. Who is Affected? The disease is more common in older people and those of northern European heritage. Research suggests that a close relative of someone with Paget's disease is seven times more likely to develop the disease than someone without an affected relative. What Are the Symptoms? Many patients do not know they have Paget's disease because they have no symptoms. Sometimes the symptoms may be confused with those of arthritis or other disorders. In other cases, the diagnosis is made only after the patient has developed complications...

Read more about Paget's Disease of the Bone NIH - National Institute of Arthritis and Musculoskeletal and Skin Diseases What works? Research summarized Paget's Disease of Bone-Topic Overview Paget's Disease of Bone Paget's Disease of Bone - Topic Overview Paget's Disease of Bone Credits What is Paget's disease? Paget's disease is a problem of abnormal bone growth. It may affect just one bone, but it usually affects more than one. In normal bone, the bone tissue is constantly being broken down, absorbed into the body, and then rebuilt with new cells. In Paget's disease, bone tissue is broken down and absorbed much faster than normal, so the body speeds up the bone rebuilding process. But this new bone is often weak and brittle, and it breaks easily. Paget's disease is most common in people older than 50, and the risk of getting it increases with age. Most people who have it are able to lead normal lives. What causes Paget's disease? The cause of Paget's disease is not clear. But it may be related to: Genetics . You're more likely to get Paget's disease if your parents, brothers, or sisters have it. Viruses.

The viruses linked to measles in people and distemper in dogs have been found in the bones of people with Paget's disease. But there's no proof that these viruses cause this disease. What are the symptoms? Most people with Paget's disease have no symptoms. When symptoms occur, the most common ones are: Bone pain. It may be worse at night and get better with exercise . People often mistake the pain for normal aging or arthritis . Deformed bones, such as bowed legs , an enlarged skull or hips, or a curved backbone. Broken bones, or fractures . Other symptoms may occur, depending on which part of the body is affected by Paget's disease. If it affects the skull, you may have symptoms such as headaches , sagging face muscles ( facial droop ), hearing problems, or loose teeth . If it affects the spine , it may damage nerves and cause leg pain , numbness, or weakness . It can also cause an emergency condition called cauda equina syndrome that results in loss of feeling in the pelvic area and legs. How is Paget's disease diagnosed? Paget's disease is most often found by chance when a person sees a doctor for a problem such as hip or back pain .

An abnormal X-ray or blood test may lead the doctor to discover this disease. Continued To diagnose Paget's disease, the doctor will ask about your past health, do a physical exam , and order tests such as: Bone X-rays. Affected bones often look deformed and too thick on X-rays. Bone scan . This is the best test for diagnosing Paget's disease. You may have a bone scan of your whole body to find out which bones are affected. Blood and urine tests. The most important one for diagnosing Paget's disease is a blood test for alkaline phosphatase , an enzyme made by bone. If the level of this enzyme is high, your doctor will want to do other tests. You might also need other tests, such as an MRI or a CT scan . How is it treated? Many people don't need treatment for Paget's disease. But even if you don't need treatment, you will still need to see your doctor on a regular basis from now on. This will let your doctor watch for other problems you might get from the disease, such as arthritis , fractures , or nerve problems.

Your doctor may prescribe medicine if you have symptoms or if you have no symptoms but you are at risk for other problems from Paget's disease. Medicine can help reduce the breakdown of bone tissue, control symptoms such as bone pain, and prevent other problems such as arthritis, fractures, or nerve damage . Bisphosphonates are usually the first medicines prescribed for Paget's disease. They often make the disease inactive, sometimes for years or decades. If it becomes active again, you may need to take this medicine off and on to keep the disease under control. Calcitonin may be prescribed if you have problems with bisphosphonates. It has similar benefits. If you still have pain while taking your prescribed medicine, you can try: An over-the-counter pain reliever such as acetaminophen , naproxen , or ibuprofen . Be safe with medicines. Read and follow all instructions on the label. Acupuncture or relaxation techniques such as guided imagery or biofeedback . You might also need other treatments, such as: Physical therapy to build your muscles and improve your balance. This can help reduce falls and prevent broken bones. Splints or braces to support your bones and joints and to help keep weak bones from breaking.

A cane or walker to help you avoid falling and breaking a bone. A hearing aid if the disease has caused hearing loss . Some people may need surgery to replace a damaged hip or knee joint. Continued Paget's Disease of Bone. Paget's Disease symptoms, treatment | Patient 304 Paget's disease affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Symptoms develop in some cases and pain in the affected part of bone is the most common symptom. Affected bones are weaker than normal and may become deformed and may break (fracture) more easily than normal. Treatment with a bisphosphonate medicine is used in some cases to ease pain and to help treat complications. Understanding normal bone Bone is a living tissue. There are two main types of cells within the hard bone material. One type called osteoblasts make and lay down bone material. Another type called osteoclasts dissolve (resorb) particles of bone. These cells are active throughout life. They work in a balanced way to make and mould bone, repair damage, and keep the bone structure correctly woven. There is a slow but constant turnover of bone. What is Paget's disease?

Paget's disease of bone was first described by Sir James Paget in 1877. (It is a different condition to Paget's disease of the breast. This leaflet is only about Paget's disease of bone.) In Paget's disease, the bone-making process (bone turnover) becomes faster and out of control. Affected areas of bone form new bone material in an abnormal way. The newly formed bone is thicker than normal and the bone may become wider. However, the bone is not made properly and it is weaker than normal bone. This can cause deformity of the affected bone, particularly in weight-bearing bones such as the leg bones, which may bend. Affected bone is also more likely to break (fracture). What causes Paget's disease of bone? The underlying cause is a problem with the osteoclast bone cells. In affected areas of bone there are abnormal osteoclasts which are bigger than normal and more in number. It is thought that these are wrongly programmed in the way they mould bone. More bone than normal is dissolved (resorbed) by the abnormal osteoclasts. As a response to this, the osteoblasts increase in activity to make new bone material.

But this increase in bone turnover leads to badly structured areas of bone that are wrongly woven. How the osteoclasts in a localised area of bone become out of control is not known. One theory is that they may become infected with a virus which alters them in some way. There also seem to be some genetic factors. Your genetic makeup is the material inherited from your parents which controls various aspects of your body. Around 15 in 100 people with Paget's disease have a close relative (parent, mother, brother, sister) who also develops the disease. Who gets Paget's disease of bone? It mainly affects people aged over 50. The disease affects three men for every two women. It becomes more common with increasing age. Around 5 in 100 women and 8 in 100 men in their 80s are thought to have some degree of Paget's disease. However, most people with Paget's disease have no symptoms and will not be aware they have the condition. The UK has the highest rate of Paget's disease in the world. It is not clear exactly why this is but it may be due to the genetic and other factors discussed above.

What are the symptoms of Paget's disease of bone? One or more bones may be affected. The bones most commonly affected are: The pelvis The thigh bone in the upper leg (femur) The bones (vertebrae) of the spine The skull The shin bone (tibia). Other bones are less commonly affected. The abnormality of bone formation starts in one point on a bone. It can then gradually spread along the bone. This may lead to one or more of the following. In many cases there are no symptoms More than 9 in 10 people with Paget's disease have no symptoms. The abnormal structure of bone is localised and may never cause any problems. The disease is commonly found by chance when an X-ray is taken for another reason. Pain This is the most common symptom if symptoms do occur. The pain is typically a deep-seated ache of the bone, which can be present both at rest and on exercise. It is commonly worse at night. It may be mild but can become severe. Shooting pains from the affected area may also occur. Deformity A deformity may develop, depending on the site of the disease and the size of the affected part of the bone.

Bowing of the upper leg is the most common and can happen if the femur is affected. Bowing of the tibia can lead to a deformity known as sabre tibia. Another example is an odd shape to the head that may develop if the skull is affected. The skull can become enlarged and you may develop a prominent, wide forehead. Fractures Affected bones are more liable to break (fracture). A fracture after a minor fall or injury may be the first indication that Paget's disease has developed. Nerve compression Abnormal overgrowth of a bone may press on nearby nerves. This can cause a variety of symptoms. For example, neuralgic pain (a different type of pain to the more common bone pain of Paget's disease). Another quite common symptom if the skull is affected is deafness in one ear. This is caused by pressure on the ear nerve that passes through an affected skull bone. Other possible problems include weakness of muscles supplied by a compressed nerve, or numbness of an area of skin supplied by a compressed nerve. Joint inflammation (arthritis) This may develop if an affected section of bone is next to a joint.

Some rare complications of Paget's disease of bone The following are some possible, but rare, complications. Heart failure If large areas of bone throughout the body are affected then you need a lot of blood flow to the affected bone. This can cause problems for the heart, as it needs to deliver this extra blood flow and so heart failure may develop. Vascular steal syndrome If the skull is extensively affected, the extra blood flow needed to supply the enlarged skull may be 'stolen' from the blood supply going to the brain. This may result in you becoming tired and listless. A similar effect can occur if a large area of spine is involved. Blood flow to the spinal cord may be 'stolen' and diverted to the affected bone. This can cause various symptoms such as numbness and weakness of parts of the body supplied by nerves branching from the affected part of the spinal cord. Bone cancer Rarely, abnormal bone turns cancerous. This is thought to occur in less than 1 in 1,000 people with Paget's disease. Bone cancer may be suspected if you develop worsening pain or swelling over an affected area of bone. Other The high bone turnover may cause high blood levels of various chemicals.

Rarely, this leads to problems such as gout or a high blood calcium level which can cause various symptoms. How is Paget's disease of bone diagnosed? X-ray . A bone with Paget's disease can usually be seen quite easily on an X-ray. The X-ray may be done if the disease is suspected by your doctor (if you have pain, etc). More often, it is seen by chance when an X-ray is done for another reason. Bone scan . This may be done if an area of Paget's disease is found in one bone. This test involves an injection of a very small amount of a radioisotope (a radioactive chemical). The radioisotope is taken up into bone but is much more readily taken up by areas affected by Paget's disease which have a high bone turnover. A scan then detects the level of radioactivity coming from each bone. High levels of radioactivity are found in affected bones. Therefore, this test can detect which bones are affected throughout the body. The radioactive chemical passes out of the body after a short time. Blood tests. A chemical in the blood called alkaline phosphatase can be measured in a blood sample. Levels rise with increasing bone turnover.

The level of alkaline phosphatase gives some idea of the activity of the disease and how extensive it is throughout the body. This blood test is also useful to see how well treatment is working. The level falls when treatment is working and the rate of bone turnover falls. The blood test may be advised every so often if treatment is given, to check that treatment is continuing to work. In most cases, the above investigations are enough to be able to diagnose Paget's disease. Rarely, a sample ( biopsy ) of bone is needed if the diagnosis is uncertain. What is the treatment for Paget's disease of bone? In many people with Paget's disease, it is found by chance, does not cause symptoms, and treatment may not be needed. Treatment may be advised if symptoms such as pain or bone deformity develop, or if complications develop. Also, treatment may be advised if you do not have symptoms but if Paget's disease is in a site where it may cause problems as the disease progresses. For example, if you have an area of Paget's disease at the base of your skull. Progression of the disease here, if left untreated, may result in compression of the ear nerve and cause deafness.

Your specialist will advise on whether treatment is necessary in your case. More related content Bisphosphonate medicines If treatment is advised, a bisphosphonate medicine is the usual treatment given. There are several types which include: etidronate, pamidronate, risedronate and zoledronic acid . Bisphosphonates work by reducing the abnormal bone turnover. This means that any new bone formed is more normal in structure. Bisphosphonates have an effect on existing disease to reduce pain, although this may take several months of treatment. In theory, it is also thought that bisphosphonates may help to prevent further progression of the disease and also complications. A course of treatment usually lasts several weeks or months. This often has a knock-on effect for several months or years. Most of the bisphosphonates are taken as tablets, but pamidronate and zoledronate are given by injection. If you take bisphosphonate tablets, it is vital that you take them exactly as instructed. Read the leaflet that comes with the tablets for details on how to take the tablets. For example, one instruction will be to take the tablets on an empty stomach.

This is because the absorption of bisphosphonates from your gut is affected by certain foods. Like all medicines, bisphosphonate medicines may cause side-effects but generally they are well tolerated and work well. The leaflet that comes with the tablet packet gives a full list of possible side-effects. Tell your doctor if you have side-effects when taking a bisphosphonate, as an alternative one may be better. One potential problem to consider with bisphosphonates Bone destruction (osteonecrosis) of the jaw is a rare complication that affects a small number of people who are treated with a bisphosphonate. The main symptoms of osteonecrosis of the jaw include pain, numbness or a heaviness of the jaw, gum infections and loosening of teeth. It may eventually lead to disfigurement of the jaw. Osteonecrosis of the jaw mostly occurs in people who have been treated with a bisphosphonate for a number of years. The risk is increased if you are on chemotherapy as a treatment for cancer, if you are on steroid treatment, or if you have dental treatment. Therefore: It is best to have any dental treatment done before you commence treatment with a bisphosphonate.

If you are being treated with a bisphosphonate, tell your doctor or dentist as soon as possible if you develop any gum, tooth or jaw symptoms. Tell your dentist that you are taking a bisphosphonate before any dental work. Maintain good oral and dental hygiene. Other treatments Various other treatments may be advised, depending on your circumstances. For example: Painkillers if the disease is causing pain. The painkillers used may be different for bone pain and neuralgic pain - the two different types of pain which may occur. Calcium and vitamin D supplements are needed by some people with Paget's disease if they are thought to have low levels of these. Walking sticks and shoe raises may be needed if there are specific problems such as a shorter limb or limb deformity due to Paget's disease. Calcitonin is a medicine that also reduces bone turnover. It was used before bisphosphonates were developed. It is less effective than these newer medicines and is not used so much now. Surgery may sometimes be needed if the disease has caused deformity, a break (fracture) or has damaged a joint.

For example, joint replacement surgery may be an option if a bone near to a joint is affected and has caused bad arthritis. Further help & information References & Disclaimer | Provide Feedback Further reading & references Paget's Disease of Bone-OrthoInfo - AAOS Copyright 2007 American Academy of Orthopaedic Surgeons Paget's Disease of Bone Description Paget's disease of bone is a chronic disease of the skeleton. It is a common disease in older people, occurring in about 3 percent to 4 percent of the population over age 50. It is slightly more common in men than women. Left, Paget's disease of the spine. The white, patchy appearance of the bone on this X-ray is characteristic of the dense but disordered bone in this disease. Right, Paget's disease of the pelvis. The bone is thick, wide, and patchy. Paget's disease can affect any bone in the skeleton. It appears most often in the spine, pelvis, long bones of the limbs, and skull. It can be present in just one bone or in several bones. It can affect the entire bone or just part of it. Paget's disease tends to appear in families.

It can be present in as many as 25 percent to 40 percent of the relatives of someone with the disease. It is also more common in people of Anglo-Saxon descent and those who live in certain geographic areas, such as England, the United States, Australia, New Zealand, and Western Europe. It is not common in Scandinavia, China, Japan, or India. Some doctors suggest that some environmental exposure, not just genetics, is important in the development of Paget's disease. This has not been proven definitively. Paget's disease is uncommon in people younger than 40 years of age. It is more common as people age. There are no known ways to prevent Paget's disease from occurring. Eating a healthy diet with sufficient calcium and Vitamin D and getting exercise are important components in maintaining skeletal health and joint mobility. Top of page Cause In normal bone, a process called remodeling takes place every day. Bone is absorbed and then reformed in response to the normal stresses on the skeleton. Cells of the bone called "osteoclasts" absorb bone. Cells of the bone called "osteoblasts" make new bone.

Left, Large, plump osteoclasts (OCL) resorbing bone (BONE). The divots in the adjacent bone indicate that these osteoclasts are active. Right, Disordered mosaic pattern of pagetoid bone. In Paget's disease, osteoclasts are more active than osteoblasts. This means that there is more bone absorption than normal. The osteoblasts try to keep up by making new bone, but they overreact and make excess bone that is very chaotic. The new bone is abnormally large, is deformed, and fits together haphazardly. Normal bone has a tight overlapping structure, like a well-constructed brick wall. Bone afflicted by Paget's disease has an irregular mosaic pattern, as though the bricks were just dumped in place. Paget's disease of the humerus. Note how dense and wide the bone is. It is also patchy from areas of active bone turnover. The end result is bones that are large and dense, but weak and brittle. The bone is prone to fractures, bowing, and deformities. Top of page Symptoms People with Paget's disease often do not have any symptoms at all.

A doctor may notice Paget's disease on an X-ray that is taken for another reason or during routine blood work when an elevated serum alkaline phosphatase level is found. In patients who do have symptoms, bone pain is the most common complaint. This pain can be related to active Paget's disease or its complications, which include: Fractures of brittle bone Advanced arthritis of joints near affected bone Compression on neighboring nerves from enlarged bones, leading to a loss of sensation or movement Symptoms can arise from the effect on calcium levels in the blood stream. When Paget's disease is active in several bones, the overactive osteoclasts can release enough calcium from the bone as they break it down to cause an elevated calcium level in the blood. This rare complication might cause fatigue, weakness, loss of appetite, abdominal pain, or constipation. A doctor can also detect Paget's disease from its effect on the heart if excess blood supply is shunted to overactive bones in severe cases. Paget's sarcoma of the humerus. There has been a significant change over time in the X-ray appearance from 4A to 4B.

There is actual bone destruction in the later X-ray (4B) and there was a large soft-tissue mass outside of the bone on the magnetic resonance image. When pain is severe and unrelenting in an area affected by Paget's disease, the disease may have degenerated into a bone cancer. Paget's sarcoma occurs in only about 1 percent of patients with Paget's disease. These patients are usually older than 70 years of age. This type of malignant bone tumor is very aggressive and carries a poor prognosis. None of the medical treatments for Paget's disease have had an effect on the risk for the development of Paget's sarcoma. Top of page Diagnosis A doctor can usually diagnose Paget's disease by looking at an X-ray. An affected bone appears larger and more dense than usual. It can have a deformed shape. In the very early stages of Paget's disease, when there is just overactive absorption going on, it can look like there is a hole in the bone. Later in the disease process, this darker area can take the shape of a "V," with denser, thicker bone following behind it.

A blood test called serum alkaline phosphatase can also be used by a doctor to confirm the diagnosis. This test measures bone turnover. It is usually quite elevated in patients with Paget's disease. A doctor can also detect Paget's disease with urine tests that show rapid bone turnover. A doctor may use bone scans to see if more than one bone is involved. In this test, a radioactive material is injected into a vein to travel throughout the body. A special camera is used to look through the whole skeleton for "hot spots," or areas where there is more bone turnover than usual. Paget's disease almost always looks "hot" on a bone scan, except when it has been there for a long time and has "burned out." Biopsy of the bone is sometimes necessary to confirm the diagnosis of Paget's disease, to be sure it is not something else, and sometimes before the doctors can give medication to help treat symptoms. These biopsies are sometimes done with a needle, using numbing medicine only, or with a little sedation. Sometimes they are done in the operating room through small incisions.

Treatment Options Nonsurgical Treatment Medical treatments can help decrease the symptoms of Paget's disease, but there is no known way to reverse the effects on the bone. Patients with no symptoms require no treatment apart from observation. Periodic X-rays may be recommended so that the doctor can watch for any changes. For patients who have mild pain from the disease or from arthritis associated with it, nonsteroidal anti-inflammatory drugs (NSAIDs) and aspirin can be very helpful. When the pelvis or leg is involved, using a cane can effectively decrease pain by decreasing the forces going through the bone. A cane can also help prevent falls, so there is less risk of fracture. Braces may be used to prevent malalignment of the bones. When bone pain is more significant, medications called bisphosphonates are the treatment of choice. These drugs block osteoclasts and can be very effective in treating Paget's disease. There are several types of bisphosphonates that are taken by mouth (oral form) or by injection (intravenous form). Your doctor will tell you which type is best for you and how long you will need to take it.

Alkaline phosphatase levels should be checked periodically while taking these medications because it will steadily decline along with the bone pain. Surgical Treatment Surgery is used mainly to treat the complications of Paget's disease. Surgery may be needed if there is a fracture, if the bone is badly aligned, or if severe arthritis develops. Surgery may also be needed if the enlarged bone begins to compress nerves, especially in the spine or skull. In the rare cases of Paget's sarcoma, surgery is almost always used to try to remove the tumor entirely. Chemotherapy and radiation therapy may also be used. The surgical procedures used to treat fractures, malalignment, or arthritis in patients with Paget's disease are similar to those used to treat similar conditions in people with normal bone. However, because Paget's disease increases the blood supply to bones, the physician may recommend taking bisphosphonates before the surgery to reduce potential blood loss. Bones affected by Paget's disease may take longer to heal than normal bones. Longer rehabilitation than usual may be necessary. Top of page Research on the Horizon Scientists are currently investigating the genes that may be involved in Paget's disease.

This work could enable doctors to predict who may be at risk for the disease and lead to new therapies to treat it. The more details doctors can uncover about why the disease occurs, the better able they will be to develop treatments specific to Paget's disease. Eventually, doctors hope to reverse the effects on the bone, instead of just slowing them. Top of page Last reviewed: October 2007 AAOS does not endorse any treatments, procedures, products, or physicians referenced herein. This information is provided as an educational service and is not intended to serve as medical advice. Anyone seeking specific orthopaedic advice or assistance should consult his or her orthopaedic surgeon, or locate one in your area through the AAOS "Find an Orthopaedist" program on this website. Copyright 2007 American Academy of Orthopaedic Surgeons OrthoInfo The American Academy of Orthopaedic Surgeons 9400 West Higgins Road NIHSeniorHealth: Paget's Disease of Bone - What is Paget's Disease of Bone? What is Paget's Disease of Bone?

Topic last reviewed: June 2012 Paget's Disease of Bone Click for more information Enlarged and Misshapen Bones Paget's disease of bone causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget's disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone. Click for more information Paget's disease can occur in any bone in the body, but it is most common in the pelvis, spine, skull, and leg bones. It may occur in just one bone or in several bones, but it does not affect the entire skeleton or spread from affected bones to normal bones. Common symptoms include pain, misshapen bones, and a greater chance of broken bones. Complications Paget's disease can also lead to complications, such as arthritis, headaches, hearing loss, or nervous system problems, depending on which bones are affected. If not treated, Paget's disease can reduce a person's ability to perform activities of daily living, thereby reducing quality of life.

Although it is the second most common bone disease after osteoporosis, Paget's disease is still uncommon. According to Bone Health and Osteoporosis: A Report of the Surgeon General, an estimated 1 million people in the U.S. have Paget's disease, or about 1.3 people per 100 men and women age 45-74. The disease is more common in older people and those of Northern European heritage. Men are more likely than women to have the disease. Click for more information Cause is Unknown Paget's disease is named after the British surgeon, Sir James Paget, who first identified the disease in 1877. Researchers are not sure what causes it. Heredity may be a factor in some cases. Research suggests that a close relative of someone with Paget's disease is seven times more likely to develop the disease than someone without an affected relative. However, most people with Paget's disease do not have any relatives with the disease. Researchers think the disease also may be caused by other factors, such as a slow-acting virus. A Treatable Disease The good news is that Paget's disease of bone is treatable, especially if it is diagnosed early.

In recent years, the Food and Drug Administration has approved several medications that can stop or slow the disease's progression. In some cases, surgery can help patients manage the symptoms and complications of the disease. Paget disease of the bone: MedlinePlus Medical Encyclopedia Elevated markers of bone breakdown (for example, N-telopeptide) This disease may also affect the results of the following tests: Serum calcium Treatment Not all people with Paget disease need to be treated. People who may not need treatment include those who: Only have mildly abnormal blood tests Have no symptoms and no evidence of active disease Paget disease is commonly treated when: Certain bones, such as weight-bearing bones, are involved. Bony changes are getting worse quickly (treatment can reduce the risk of fractures). Bony deformities are present. A person has pain or other symptoms. The skull is affected. (This is to prevent hearing loss.) The calcium levels are elevated and causing symptoms. Drug therapy helps prevent further bone breakdown and formation. Currently, there are several classes of drugs used to treat Paget disease. These include: Bisphosphonates: These drugs are the first treatment, and they help decrease bone remodeling.

Medicines are commonly taken by mouth, but can also be given through a vein (intravenously). Calcitonin: This hormone is involved in bone metabolism. It may be given as a nasal spray (Miacalcin), or as an injection under the skin (Calcimar or Mithracin) Acetaminophen (Tylenol) or nonsteroidal anti-inflammatory drugs (NSAIDs) may also be given for pain. In severe cases, orthopedic surgery may be needed to correct a deformity. Support Groups People with this condition may benefit from taking part in support groups for people with similar experiences. Outlook (Prognosis) Most of the time, the condition can be controlled with medicines. A small number of people may develop a cancer of the bone called osteosarcoma. Some people will need joint replacement surgery. Possible Complications X-ray References Ralston SH. Paget disease of bone. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 247. Singer FR. Paget's disease of bone.

In: Jameson JL, De Groot LJ, de Krester DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 72. Read More Spinal stenosis Review Date 10/28/2015 Updated by: Brent Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics

Question: What part of the body is affected by Paget's Disease?
Answer: Bones