![]() Our clinical experts are actively involved in expanding horizons in the area of research for alpha 1-antitryspin deficiency. Infusions may be administered at an infusion center or at home. ![]() Standard treatment requires therapy for the underlying condition (emphysema or bronchiectasis) along with weekly infusions of alpha-1 protein replacement therapy. ![]() The UC San Diego Health Advanced Lung Disease Program offers patients with alpha 1-antitrypsin deficiency both standard and cutting-edge investigational therapies. Multidisciplinary Approach to Alpha 1-antitrypsin Deficiency Vomiting blood (from enlarged veins in the esophagus or stomach).Swelling of the abdomen (ascites) or leg. ![]() Eyes and skin turning yellow (jaundice).Unexplained liver disease or elevated liver enzyme.Asthma that can’t be completely reversed with aggressive medical treatment.Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time.In others, symptoms can present related to the lung and/or liver.ĪAT Deficiency Symptoms Related to the Lung: Some people even with 2 abnormal genes have no symptoms and do not develop complications. A person who does not have Alpha-1 will have two M genes (MM). The most common abnormal genes are called S and Z. There are many types of abnormal alpha-1 antitrypsin genes. In others, the AAT proteins are produced in the wrong shape and they get stuck in the liver cells (causing emphysema or bronchiectasis as well as liver disease). In some individuals, there is not enough production of the AAT protein. Alpha-1 antitrypsin is a protein that protects us from enzymes that destroy the lungs (causing emphysema or bronchiectasis). What is Alpha 1-antitrypsin Deficiency?Īlpha-1 antitrypsin (AAT) deficiency is a relatively common genetic condition that is often under-recognized. Kamyar Ashfar nationally recognized physician for his expertise in alpha 1-antitrypsin deficiency. This distinction recognizes our program's dedication to the care, advancement of research and treatments for individuals with Alpha-1 deficiency. People with AAT deficiency are at an increased risk of developing lung disease early in life if they smoke, are exposed to secondhand smoke, work or live in a dusty environment, have a family history of emphysema, have a personal history of asthma, or a history of repeated lung infections.The alpha 1-antitrypsin deficiency program at the UC San Diego Health is certified by the Alpha-1 Foundation. Not every individual with AAT deficiency develops emphysema, a type of COPD. When a person inherits an abnormal gene from each parent, it increases the severity of disease. Depending on the condition of the inherited genes, a person’s AAT levels may be normal, reduced or absent. AAT deficiency happens when one or both parents pass on to their children an abnormal version of a gene that regulates the production of the AAT protein. What Causes AAT Deficiency?ĪAT deficiency is an inherited condition. In some individuals, AAT deficiency may cause frequent red, painful nodules on the skin. In the first three decades of life, liver disease is more common than lung disease for a person with AAT deficiency. Additionally, AAT deficiency can affect the liver, leading to poor function and increasing the risk of cirrhosis and liver cancer. This can cause problems with the exchange of gas and clearance of mucus from the lung. It causes damage to the lining and alveoli of the lung, resulting in emphysema, or permanent enlargement of the lung’s airways. Normally, this enzyme plays an important role in fighting infection, but too much of it can harm healthy tissue. When AAT levels are reduced or absent, the balance between AAT and the enzyme elastase is thrown off and can cause damage. It is estimated that there are between 80,000 to 100,000 individuals affected by AAT deficiency in the United States.There is no cure, but treatment can help people with AAT deficiency manage their symptoms and live a better life.The severity of disease depends in part on the abnormalities present in the genes inherited from each parent. In alpha-1 antitrypsin deficiency, the body’s normal production of AAT is reduced, resulting in the destruction of sensitive lung tissue.Alpha-1-antitrypsin (AAT) is a protein produced in the liver that protects the body's tissues from being damaged by infection-fighting agents released by its immune system.
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