bowang0911/MedQuAD huggingface dataset:
Alagille syndrome occurs in about one of every 30,000 live births.3 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences.
                
JAG1 and NOTCH2 gene mutations are inherited in an autosomal dominant way, which means a child can get Alagille syndrome by inheriting either of the gene mutations from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene.
                
The following chart shows the chance of inheriting an autosomal dominant gene mutation:
                
The gene mutations that cause Alagille syndrome may cause mild or subtle symptoms. Some people may not know they are affected, while others with the gene mutation may develop more serious characteristics of Alagille syndrome. A person with a gene mutation, whether showing serious symptoms or not, has Alagille syndrome and can pass the gene mutation to a child.
                
Read more about how genetic conditions are inherited at the NLM's Genetics Home Reference website at www.ghr.nlm.nih.gov.
The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.
                
Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.
                
Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.
                
Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.
                
Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.
                
Long-term Outlook
                
The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3
                
Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.
Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort. Ursodiol (Actigall, Urso) is a medication that increases bile flow. Other treatments address specific symptoms of the disorder.
                
Liver failure. People with Alagille syndrome who develop end-stage liver failure need a liver transplant with a whole liver from a deceased donor or a segment of a liver from a living donor. People with Alagille syndrome who also have heart problems may not be candidates for a transplant because they could be more likely to have complications during and after the procedure. A liver transplant surgical team performs the transplant in a hospital.
                
More information is provided in the NIDDK health topic, Liver Transplantation.
                
Pruritus. Itching may decrease when the flow of bile from the liver is increased. Medications such as cholestyramine (Prevalite), rifampin (Rifadin, Rimactane), naltrexone (Vivitrol), or antihistamines may be prescribed to relieve pruritus. People should hydrate their skin with moisturizers and keep their fingernails trimmed to prevent skin damage from scratching. People with Alagille syndrome should avoid baths and take short showers to prevent the skin from drying out.
                
If severe pruritus does not improve with medication, a procedure called partial external biliary diversion may provide relief from itching. The procedure involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomencalled a stomathrough which bile leaves the body and is collected in a pouch. A surgeon performs partial external biliary diversion in a hospital. The patient will need general anesthesia.
                
Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb much-needed fat. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. They may also need additional zinc. If someone with Alagille syndrome does not tolerate oral doses of vitamins, a health care provider may give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a health care provider may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. A child's growth may improve with increased nutrition and flow of bile from the liver.
                
Xanthomas. For someone who has Alagille syndrome, these fatty deposits typically worsen over the first few years of life and then improve over time. They may eventually disappear in response to partial external biliary diversion or the medications used to increase bile flow.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Alagille syndrome. However, these factors are important for people with Alagille syndrome, particularly children, who are malnourished, growing poorly, or have delayed puberty. Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition.
                
A nutritionist or a dietitiana person with training in nutrition and dietcan work with someone with Alagille syndrome and his or her health care team to build an appropriate healthy eating plan. A person with Alagille syndrome may need to take dietary supplements or vitamins in addition to eating a set number of calories, based on the type of complications the person has. Researchers consider good nutrition to be one of the most important aspects of managing the disorder.
                
If potential liver problems are present, a person with Alagille syndrome should not drink alcoholic beverages without talking with his or her health care provider first.
                
Additionally, eating, diet, and nutrition play a part in overall health and preventing further health problems.
- Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver.  - A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver.  - In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.  - Alagille syndrome is caused by a gene mutation, or defect. Approximately 30 to 50 percent of people with Alagille syndrome have an inherited gene mutation, meaning it has been passed on by a parent.  - Alagille syndrome occurs in about one of every 30,000 live births. The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences.  - The gene mutations that cause Alagille syndrome may cause mild or subtle symptoms. Some people may not know they are affected.  - The signs and symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation.  - In some people, problems in the liver may be the first signs and symptoms of the disorder.  - The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems.  - Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.  - A health care provider diagnoses Alagille syndrome by performing a thorough physical exam and other tests.  - Genetic counseling can help family members understand how genetic test results may affect them individually and as a family.  - Treatment for Alagille syndrome includes medications and therapies that increase the flow of bile from the liver, promote growth and development in infants' and children's bodies, correct nutritional deficiencies, and reduce the person's discomfort.  - Scientists have not yet found a way to prevent Alagille syndrome.  - Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition.
Too much glucose in the blood for a long time can cause diabetes problems. This high blood glucose, also called blood sugar, can damage many parts of the body, such as the heart, blood vessels, eyes, and kidneys. Heart and blood vessel disease can lead to heart attacks and strokes, the leading causes of death for people with diabetes. You can do a lot to prevent or slow down diabetes problems.
                
This booklet is about heart and blood vessel problems caused by diabetes. You will learn the things you can do each day and during each year to stay healthy and prevent diabetes problems.
You can do a lot to prevent heart disease and stroke.
                
- Keep your blood glucose under control. You can see if your blood glucose is under control by having an A1C test at least twice a year. The A1C test tells you your average blood glucose for the past 2 to 3 months. The target for most people with diabetes is below 7. In some people with heart disease or other special circumstances, their doctor may recommend slightly higher levels of A1C.  - Keep your blood pressure under control. Have it checked at every doctor visit. The target for most people with diabetes is below 140/80, unless their doctor sets a different target.  - Keep your cholesterol under control. Have it checked at least once a year. The targets for most people with diabetes are      - LDLbadcholesterol: below 100    - HDLgoodcholesterol: above 40 in men and above 50 in women    - triglyceridesanother type of fat in the blood: below 150    - Make sure the foods you eat are "heart-healthy." Include foods high in fiber, such as oat bran, oatmeal, whole-grain breads and cereals, fruits, and vegetables. Cut back on foods high in saturated fat or cholesterol, such as meats, butter, dairy products with fat, eggs, shortening, lard, and foods with palm oil or coconut oil. Limit foods with trans fat, such as snack foods and commercial baked goods.  - If you smoke, quit. Your doctor can tell you about ways to help you quit smoking.  - Ask your doctor whether you should take an aspirin every day. Studies have shown that taking a low dose of aspirin every day can help reduce your risk of heart disease and stroke.  - Take your medicines as directed.
You may have one or more of the following warning signs:
                
- chest pain or discomfort  - pain or discomfort in your arms, back, jaw, or neck  - indigestion or stomach pain  - shortness of breath  - sweating  - nausea  - light-headedness
                
Or, you may have no warning signs at all. Warning signs may come and go. If you have any of these warning signs, call 911 right away. Getting prompt treatment can reduce damage to the heart.
Narrowed blood vessels leave a smaller opening for blood to flow through. Having narrowed blood vessels is like turning on a garden hose and holding your thumb over the opening. The smaller opening makes the water shoot out with more pressure. In the same way, narrowed blood vessels lead to high blood pressure. Other factors, such as kidney problems and being overweight, also can lead to high blood pressure.
                
Many people with diabetes also have high blood pressure. If you have heart, eye, or kidney problems from diabetes, high blood pressure can make them worse.
                
You will see your blood pressure written with two numbers separated by a slash. For example, your reading might be 120/70, said as "120 over 70." For most people with diabetes, the target is to keep the first number below 140 and the second number below 80, unless their doctor sets a different target.
                
If you have high blood pressure, ask your doctor how to lower it. Your doctor may ask you to take blood pressure medicine every day. Some types of blood pressure medicine can also help keep your kidneys healthy.
                
You may also be able to control your blood pressure by
                
- eating more fruits and vegetables  - eating less salt and high-sodium foods  - losing weight if you need to  - being physically active  - not smoking  - limiting alcoholic drinks
A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause
                
- sudden weakness or numbness of your face, arm, or leg on one side of your body  - sudden confusion, trouble talking, or trouble understanding  - sudden dizziness, loss of balance, or trouble walking  - sudden trouble seeing in one or both eyes or sudden double vision  - sudden severe headache
                
Sometimes, one or more of these warning signs may happen and then disappear. You might be having a "mini-stroke," also called a TIA or a transient ischemic attack. If you have any of these warning signs, call 911 right away. Getting care for a TIA may reduce or prevent a stroke. Getting prompt treatment for a stroke can reduce the damage to the brain and improve chances for recovery.
Primary hyperparathyroidism is a disorder of the parathyroid glands, also called parathyroids. Primary means this disorder originates in the parathyroid glands. In primary hyperparathyroidism, one or more of the parathyroid glands are overactive. As a result, the gland releases too much parathyroid hormone (PTH). The disorder includes the problems that occur in the rest of the body as a result of too much PTHfor example, loss of calcium from bones.
                
In the United States, about 100,000 people develop primary hyperparathyroidism each year.1 The disorder is diagnosed most often in people between age 50 and 60, and women are affected about three times as often as men.2
                
Secondary, or reactive, hyperparathyroidism can occur if a problem such as kidney failure causes the parathyroid glands to be overactive.
The parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. In most such cases, however, the parathyroid glands function normally.
                
The parathyroid glands are part of the bodys endocrine system. Endocrine glands produce, store, and release hormones, which travel in the bloodstream to target cells elsewhere in the body and direct the cells activity.
                
Though their names are similar, the thyroid and parathyroid glands are entirely different glands, each producing distinct hormones with specific functions. The parathyroid glands produce PTH, a hormone that helps maintain the correct balance of calcium in the body. PTH regulates the level of calcium in the blood, release of calcium from bone, absorption of calcium in the small intestine, and excretion of calcium in the urine.
                
When the level of calcium in the blood falls too low, normal parathyroid glands release just enough PTH to restore the blood calcium level.
High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones.
                
High blood calcium levels might contribute to other problems, such as heart disease, high blood pressure, and difficulty with concentration. However, more research is needed to better understand how primary hyperparathyroidism affects the cardiovascular systemthe heart and blood vesselsand the central nervous systemthe brain and spinal cord.
In about 80 percent of people with primary hyperparathyroidism, a benign, or noncancerous, tumor called an adenoma has formed in one of the parathyroid glands.2 The tumor causes the gland to become overactive. In most other cases, the excess hormone comes from two or more overactive parathyroid glands, a condition called multiple tumors or hyperplasia. Rarely, primary hyperparathyroidism is caused by cancer of a parathyroid gland.
                
In most cases, health care providers dont know why adenoma or multiple tumors occur in the parathyroid glands. Most people with primary hyperparathyroidism have no family history of the disorder, but some cases can be linked to an inherited problem. For example, familial multiple endocrine neoplasia type 1 is a rare, inherited syndrome that causes multiple tumors in the parathyroid glands as well as in the pancreas and the pituitary gland. Another rare genetic disorder, familial hypocalciuric hypercalcemia, causes a kind of hyperparathyroidism that is atypical, in part because it does not respond to standard parathyroid surgery.
Most people with primary hyperparathyroidism have no symptoms. When symptoms appear, they are often mild and nonspecific, such as
                
- muscle weakness  - fatigue and an increased need for sleep  - feelings of depression  - aches and pains in bones and joints
                
People with more severe disease may have
                
- loss of appetite  - nausea  - vomiting  - constipation  - confusion or impaired thinking and memory  - increased thirst and urination
                
These symptoms are mainly due to the high blood calcium levels that result from excessive PTH.
Health care providers diagnose primary hyperparathyroidism when a person has high blood calcium and PTH levels. High blood calcium is usually the first sign that leads health care providers to suspect parathyroid gland overactivity. Other diseases can cause high blood calcium levels, but only in primary hyperparathyroidism is the elevated calcium the result of too much PTH.
                
Routine blood tests that screen for a wide range of conditions, including high blood calcium levels, are helping health care providers diagnose primary hyperparathyroidism in people who have mild forms of the disorder and are symptom-free. For a blood test, blood is drawn at a health care providers office or commercial facility and sent to a lab for analysis.
Once the diagnosis of primary hyperparathyroidism is established, other tests may be done to assess complications:
                
- Bone mineral density test. Dual energy x-ray absorptiometry, sometimes called a DXA or DEXA scan, uses low-dose x rays to measure bone density. During the test, a person lies on a padded table while a technician moves the scanner over the persons body. DXA scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician and may be interpreted by a metabolic bone disease expert or radiologista doctor who specializes in medical imagingor other specialists; anesthesia is not needed. The test can help assess bone loss and risk of fractures.  - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. The images can show the presence of kidney stones.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can show the presence of kidney stones.  - Urine collection. A 24-hour urine collection may be done to measure selected chemicals, such as calcium and creatinine, which is a waste product healthy kidneys remove. The person collects urine over a 24-hour period, and the urine is sent to a laboratory for analysis. The urine collection may provide information on kidney damage, the risk of kidney stone formation, and the risk of familial hypocalciuric hypercalcemia.  - 25-hydroxy-vitamin D blood test. This test is recommended because vitamin D deficiency is common in people with primary hyperparathyroidism.
Eating, diet, and nutrition have not been shown to play a role in causing or preventing primary hyperparathyroidism.
                
Vitamin D. Experts suggest correcting vitamin D deficiency in people with primary hyperparathyroidism to achieve a serum level of 25-hydroxy-vitamin D greater than 20 nanograms per deciliter (50 nanomoles per liter). Research is ongoing to determine optimal doses and regimens of vitamin D supplementation for people with primary hyperparathyroidism.
                
For the healthy public, the Institute of Medicine (IOM) guidelines for vitamin D intake are
                
- people ages 1 to 70 years may require 600 International Units (IUs)  - people age 71 and older may require as much as 800 IUs
                
The IOM also recommends that no more than 4,000 IUs of vitamin D be taken per day.
                
Calcium. People with primary hyperparathyroidism without symptoms who are being monitored do not need to restrict calcium in their diet. People with low calcium levels due to loss of all parathyroid tissue from surgery will need to take calcium supplements for the rest of their life.
                
To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medicine practices, including their use of dietary supplements, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.