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Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.
                
A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases.
                
Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood.
                
A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin.
                
This article focuses on AAT deficiency as it relates to lung disease.
                
Overview
                
Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Normally, the protein travels through the bloodstream. It helps protect the body's organs from the harmful effects of other proteins. The lungs are one of the main organs that the AAT protein protects.
                
AAT deficiency occurs if the AAT proteins made in the liver aren't the right shape. They get stuck inside liver cells and can't get into the bloodstream.
                
As a result, not enough AAT proteins travel to the lungs to protect them. This increases the risk of lung disease. Also, because too many AAT proteins are stuck in the liver, liver disease can develop.
                
Severe AAT deficiency occurs if blood levels of the AAT protein fall below the lowest amount needed to protect the lungs.
                
AAT deficiency is an inherited condition. "Inherited" means it's passed from parents to children through genes.
                
Doctors don't know how many people have AAT deficiency. Many people who have the condition may not know they have it. Estimates of how many people have AAT deficiency range from about 1 in every 1,600 people to about 1 in every 5,000 people.
                
Outlook
                
People who have AAT deficiency may not have serious complications, and they may live close to a normal lifespan.
                
Among people with AAT deficiency who have a related lung or liver disease, about 3percent die each year.
                
Smoking is the leading risk factor for life-threatening lung disease if you have AAT deficiency. Smoking or exposure to tobacco smoke increases the risk of earlier lung-related symptoms and lung damage. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years.
                
AAT deficiency has no cure, but treatments are available. Treatments often are based on the type of disease you develop.
Alpha-1 antitrypsin (AAT) deficiency is an inherited disease. "Inherited" means it's passed from parents to children through genes.
                
Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins.
                
In AAT deficiency, the AAT proteins made in the liver aren't the right shape. Thus, they get stuck in the liver cells. The proteins can't get to the organs in the body that they protect, such as the lungs. Without the AAT proteins protecting the organs, diseases can develop.
                
The most common faulty gene that can cause AAT deficiency is called PiZ. If you inherit two PiZ genes (one from each parent), you'll have AAT deficiency.
                
If you inherit a PiZ gene from one parent and a normal AAT gene from the other parent, you won't have AAT deficiency. However, you might pass the PiZ gene to your children.
                
Even if you inherit two faulty AAT genes, you may not have any related complications. You may never even realize that you have AAT deficiency.
Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent.
                
AAT deficiency is an inherited condition. "Inherited" means the condition is passed from parents to children through genes.
                
If you have bloodline relatives with known AAT deficiency, you're at increased risk for the condition. Even so, it doesn't mean that you'll develop one of the diseases related to the condition.
                
Some risk factors make it more likely that you'll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk for lung disease also may go up if you're exposed to dust, fumes, or other toxic substances.
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.
                
Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough.
                
At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.
Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.
                
Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. He or she also may suspect AAT deficiency if you develop emphysema when you're 45 years old or younger.
                
Specialists Involved
                
Many doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists (lung specialists), and hepatologists (liver specialists).
                
To diagnose AAT deficiency, your doctor will:
                
Ask about possible risk factors. Risk factors include smoking and exposure to dust, fumes, and other toxic substances.
                
Ask about your medical history. A common sign of AAT deficiency is if you have a lung or liver disease without any obvious causes or risk factors. Another sign is if you have emphysema at an unusually early age (45 years or younger).
                
Ask about your family's medical history. If you have bloodline relatives who have AAT deficiency, you're more likely to have the condition.
                
Diagnostic Tests
                
Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.
                
A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have faulty AAT genes.
                
A blood test also may be used. This test checks the level of AAT protein in your blood. If the level is a lot lower than normal, it's likely that you have AAT deficiency.
                
Lung-Related Tests
                
If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography (to-MOG-rah-fee) scanning, also called CT scanning.
                
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working.
                
High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung disease and how severe it is.
Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease).
                
If you have symptoms related to AAT deficiency, your doctor may recommend:
                
Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD.
                
Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs.
                
Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best.
                
Extra oxygen, if needed.
                
A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it.
                
Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs.
                
Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease.
                
People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.
                
Future Treatments
                
Researchers are working on possible treatments that will target the faulty AAT genes and replace them with healthy genes. These treatments are in the early stages of development.
                
Researchers also are studying therapies that will help misshapen AAT proteins move from the liver into the bloodstream. They're also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein.
                
If you're interested in new treatments, ask your doctor about ongoing clinical trials for AAT deficiency.
You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes).
                
If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition.
                
You can take steps to prevent or delay lung diseases related to AAT deficiency. One important step is to quit smoking. If you don't smoke, don't start.
                
Talk with your doctor about programs and products that can help you quit smoking. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
                
For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include basic information about how to quit smoking.
                
Also, try to avoid secondhand smoke and places with dust, fumes, or other toxic substances that you may inhale.
                
Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items.
                
If you have a lung disease related to AAT deficiency, ask your doctor whether you might benefit from augmentation therapy. This is a treatment in which you receive infusions of AAT protein.
                
Augmentation therapy raises the level of AAT protein in your blood and lungs. (For more information, go to "How Is Alpha-1 Antitrypsin Deficiency Treated?")
A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
                
Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF.
                
More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease.
                
How Is Cystic Fibrosis Inherited?
                
Every person inherits two CFTR genesone from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.
                
Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.
                
The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children.
                
Example of an Inheritance Pattern for Cystic Fibrosis
Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent.
                
CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. The disease is less common among African Americans and Asian Americans.
                
More than 10 million Americans are carriers of a faulty CF gene. Many of them don't know that they're CF carriers.
Peripheral artery disease (P.A.D.) is a disease in which plaque builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood.
                
When plaque builds up in the body's arteries, the condition is called atherosclerosis. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.
                
P.A.D. usually affects the arteries in the legs, but it also can affect the arteries that carry blood from your heart to your head, arms, kidneys, and stomach. This article focuses on P.A.D. that affects blood flow to the legs.
                
Normal Artery and Artery With Plaque Buildup
                

                
Overview
                
Blocked blood flow to your legs can cause pain and numbness. It also can raise your risk of getting an infection in the affected limbs. Your body may have a hard time fighting the infection.
                
If severe enough, blocked blood flow can cause gangrene (tissue death). In very serious cases, this can lead to leg amputation.
                
If you have leg pain when you walk or climb stairs, talk with your doctor. Sometimes older people think that leg pain is just a symptom of aging. However, the cause of the pain could be P.A.D. Tell your doctor if you're feeling pain in your legs and discuss whether you should be tested for P.A.D.
                
Smoking is the main risk factor for P.A.D. If you smoke or have a history of smoking, your risk of P.A.D. increases. Other factors, such as age and having certain diseases or conditions, also increase your risk of P.A.D.
                
Outlook
                
P.A.D. increases your risk of coronary heart disease, heart attack, stroke, and transient ischemic attack("mini-stroke").Although P.A.D. is serious, it's treatable. If you have the disease, see your doctor regularly and treat the underlying atherosclerosis.P.A.D. treatment may slow or stop disease progress and reduce the risk of complications. Treatments include lifestyle changes, medicines, and surgery or procedures. Researchers continue to explore new therapies for P.A.D.
The most common cause of peripheral arterydisease (P.A.D.) is atherosclerosis. Atherosclerosis is a disease in which plaque builds up in your arteries. The exact cause of atherosclerosis isn't known.
                
The disease may start if certain factors damage the inner layers of the arteries. These factors include:
                
Smoking
                
High amounts of certain fats and cholesterol in the blood
                
High blood pressure
                
High amounts of sugar in the blood due to insulin resistance or diabetes
                
When damage occurs, your body starts a healing process. The healing may cause plaque to build up where the arteries are damaged.
                
Eventually, a section of plaque can rupture (break open), causing a blood clot to form at the site. The buildup of plaque or blood clots can severely narrow or block the arteries and limit the flow of oxygen-rich blood to your body.
Peripheral artery disease (P.A.D.) affects millions of people in the United States. The disease is more common in blacks than any other racial or ethnic group.The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions.
                
Smoking
                
Smoking is the main risk factor for P.A.D. and your risk increases if you smoke or have a history of smoking. Quitting smoking slows the progress of P.A.D. People who smoke and people who have diabetes are at highest risk for P.A.D. complications, such as gangrene (tissue death) in the leg from decreased blood flow.
                
Older Age
                
Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age.Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk for P.A.D.
                
Diseases and Conditions
                
Many diseases and conditions can raise your risk of P.A.D., including:
                
Diabetes
                
High blood pressure
                
High blood cholesterol
                
Coronary heart disease
                
Stroke
                
Metabolic syndrome
Many people who have peripheral artery disease (P.A.D.) dont have any signs or symptoms.
                
Even if you don't have signs or symptoms, ask your doctor whether you should get checked for P.A.D. if you're:
                
Aged 70 or older
                
Aged 50 or older and have a history of smoking or diabetes
                
Younger than 50 and have diabetes and one or more risk factors for atherosclerosis
                
Intermittent Claudication
                
People who have P.A.D. may have symptoms when walking or climbing stairs, which may include pain, numbness, aching, or heaviness in the leg muscles.Symptoms also may include cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. Symptoms may ease after resting.These symptoms are called intermittent claudication.
                
During physical activity, your muscles need increased blood flow. If your blood vessels are narrowed or blocked, your muscles won't get enough blood, which will lead to symptoms. When resting, the muscles need less blood flow, so the symptoms will go away.
                
Other Signs and Symptoms
                
Other signs and symptoms of P.A.D. include:
                
Weak or absent pulses in the legs or feet
                
Sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all
                
A pale or bluish color to the skin
                
A lower temperature in one leg compared to the other leg
                
Poor nail growth on the toes and decreased hair growth on the legs
                
Erectile dysfunction, especially among men who have diabetes
Taking action to control your risk factors can help prevent or delay peripheral artery disease (P.A.D.) and its complications. Know your family history of health problems related to P.A.D. If you or someone in your family has the disease, be sure to tell your doctor. Controlling risk factors includes the following.
                
Be physically active.
                
Be screened for P.A.D. A simple office test, called an ankle-brachial index or ABI, can help determine whether you have P.A.D.
                
Follow heart-healthy eating.
                
If you smoke, quit. Talk with your doctor about programs and products that can help you quitsmoking.
                
If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan.
                
The lifestyle changes described above can reduce your risk of developing P.A.D. These changes also can help prevent and control conditions that can be associated with P.A.D., such as coronary heart disease, diabetes, high blood pressure, high blood cholesterol, andstroke.
The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease.
                
Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals.
                
Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger.
                
These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away.
                
In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas in various organs in your body.
                
Genetics also may play a role in sarcoidosis. Researchers believe that sarcoidosis occurs if:
                
You have a certain gene or genes that raise your risk for the disease
                
And
                
You're exposed to something that triggers your immune system
                
Triggers may vary depending on your genetic makeup. Certain genes may influence which organs are affected and the severity of your symptoms.
                
Researchers continue to try to pinpoint the genes that are linked to sarcoidosis.
Sarcoidosis affects people of all ages and races. However, it's more common among African Americans and Northern Europeans. In the United States, the disease affects African Americans somewhat more often and more severely than Whites.
                
Studies have shown that sarcoidosis tends to vary amongst ethnic groups. For example, eye problems related to the disease are more common in Japanese people.
                
Lofgren's syndrome, a type of sarcoidosis, is more common in people of European descent. Lofgren's syndrome may involve fever, enlarged lymph nodes, arthritis (usually in the ankles), and/or erythema nodosum. Erythema nodosum is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch.
                
Sarcoidosis is somewhat more common in women than in men. The disease usually develops between the ages of 20 and 50. People who have a family history of sarcoidosis also are at higher risk for the disease.
                
Researchers have looked for a link between sarcoidosis and exposure to workplace and environmental factors. However, no clear link has been found.