The accumulation of defective AAT trapped in the liver is what leads to liver disease. Low blood levels of AAT can cause inflammation and damage to healthy tissues, especially in the lungs. This leads to low levels of AAT protein in the blood, preventing normal amounts of AAT from traveling to the lungs. In the most common form of AATD, these changes to SERPINA1 cause the body to produce misfolded AAT protein that gets trapped inside the liver (where most AAT is made). What is the underlying cause of disease? AATD is caused by changes in the SERPINA1 gene that encodes the AAT protein. People living with AATD may not be diagnosed until later in adulthood because it is often underdiagnosed or misdiagnosed as a different lung or liver disease. One of the biggest challenges with AATD is that many people don’t know they have it. Genetic testing confirms the diagnosis and can identify the mutation. How is AATD diagnosed? AATD is often diagnosed with a blood test that shows low alpha-1 antitrypsin (AAT) levels. Even with treatment, people living with AATD experience recurring hospital visits and a shortened life expectancy. Current treatments are aimed at alleviating symptoms and reducing the progression of lung disease. There are also no treatments that target the underlying cause of the disease or that address the liver disease associated with it. It can also progress to advanced liver disease like cirrhosis or liver cancer. Liver problems can present at any time, or not at all, and can cause jaundice and swelling in the legs or other parts of the body. The liver disease associated with AATD is often underrecognized, but it can also lead to severe damage. These symptoms can worsen, and progress to declining lung function and advanced lung disease potentially requiring a lung transplant. Many people with AATD primarily develop lung disease manifested by symptoms such as wheezing or shortness of breath. Learn more about our doctors and care team who diagnose and treat alpha-1 antitrypsin deficiency.What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that can cause damage to both the lungs and the liver. If you're experiencing signs or symptoms of alpha-1 antitrypsin deficiency, schedule an appointment or call 800-TEMPLE-MED (80) today. Considered the prototypic serpin, the emphysema observed in patients with AATD. Systemic deficiency in AAT (AATD) due to genetic mutations can result in liver failure and chronic lung disease such as emphysema. Regulating patients’ immune systems, regulating inflammation and modulating cell deathĪll these secondary functions of AAT contribute in their own ways to the lung maintenance program that keeps the lungs safe in spite of damage from pollutants, infections and cigarette smoke. 1 anti-trypsin (AAT) is the most abundant circulating serine protease inhibitor (serpin) and an acute phase reactant.Balancing the action of enzymes in the lungs.Research now suggests that alpha-1 antitrypsin has many other uses in addition to directly protecting the lungs: When not adequately protected, this is when COPD can develop. The lung is especially vulnerable to tissue damage. Many Functions of Alpha-1 AntitrypsinĪAT circulates in the bloodstream and protects the body from damage that can occur when enzymes from white blood cells attack normal tissues. We offer new clinical trials that may help those affected with AAT deficiency. Get a detailed look at these available treatments and how we can help improve your well-being >Īt Temple, we have been on the forefront of research on alpha-1 antitrypsin deficiency for many years. Learn how we diagnose AATD at Temple > Treatment OptionsĪlthough there is no cure for alpha-1 antitrypsin deficiency, our expert team of pulmonologists can treat the lung diseases that it causes. Read more about alpha-1 antitrypsin deficiency symptoms >ĪATD-associated COPD cannot easily be distinguished by clinical criteria alone, from emphysema caused by cigarette smoking, and other airborne exposures. Approximately 15-20% of those with AATD never develop significant lung disease, especially if they do not smoke tobacco. Smokers develop symptoms earlier, in their early to mid-30s. Nonsmokers usually have the first symptoms of COPD in their early to mid-40s. In adults: the liver can be affected, causing fibrosis and sometimes cirrhosis, and in rare cases, malignant hepatoma.Īpproximately 80% of people with alpha-1 antitrypsin deficiency develop chronic obstructive pulmonary disease (specifically emphysema, a type of COPD) at some time in their life.

In newborns: alpha-1 antitrypsin deficiency causes prolonged jaundice and sometimes perinatal hepatitis that usually resolves by itself.Alpha-1 antitrypsin deficiency is a genetic condition where the liver does not produce sufficient amounts of alpha-1 antitrypsin to protect the lungs. Alpha-1 antitrypsin, also called AAT, is a protein made in the liver.

Alpha 1 antitrypsin