Alpha-1-Antitripsin Deficiency
OVERVIEW
Alpha-1-Antitripsin Deficiency (A1AD) is a genetic condition that affects the production of a protein called alpha-1-antitrypsin. This protein is produced in the liver and is important for protecting the lungs from damage caused by certain enzymes, particularly elastase.
A1AD occurs when a person inherits two copies of a mutated gene, one from each parent. The mutated gene leads to the production of an abnormal form of alpha-1-antitrypsin that is not able to effectively protect the lungs. As a result, the lungs are susceptible to damage and inflammation, which can lead to the development of lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD). Because the misfolded protein cannot exit the liver, the liver accumulates toxic amounts of this misfolded protein which can cause liver dmaage and cirrhosis.
The severity of A1AD can vary from person to person, with some individuals only experiencing mild symptoms, while others may develop severe lung damage and liver disease. Symptoms of A1AD may include shortness of breath, cough, wheezing, and chest pain. In some cases, individuals with A1AD may also experience liver problems, such as cirrhosis.
A1AD is a rare condition, affecting approximately 1 in 2,500 to 1 in 5,000 individuals in the United States. Early diagnosis and treatment are important in managing the symptoms and progression of A1AD. This may include regular monitoring of lung function, avoiding exposure to lung irritants, and in some cases, receiving replacement therapy with alpha-1-antitrypsin.
It is important to note that not all individuals with A1AD will develop lung disease, and the progression of the condition can be greatly impacted by environmental factors, such as smoking and exposure to air pollution.
WHAT CAN I DO AT HOME TO PREVENT MORE LIVER INJURY?
Liver transplantation remains the only curative treatment for A1AD liver disease, with transplant both eliminating the risk of further liver damage from A1AD and restoring the levels of healthy alpha-1-antitrypsin in the blood.
Because of the lack of medical treatments for A1AD, it is recommended that anyone with A1AD focus on reducing any other risk factors for liver disease. This includes focusing on losing weight and maintaining a healthy weight and avoiding alcohol use. In addition, it is recommended that anyone with A1AD avoid tobacco (which will cause lung damage) as well as avoid nonsteroidal anti-inflammatory drugs (NSAIDs, because they may increase the formation of the defective protein in the liver).
A variety of treatments are being studied for A1AD, although most are in the early stages of clinical development.
WHAT TREATMENTS SHOULD I DISCUSS WITH MY DOCTOR?
At each clinic visit you should consider discussing the following items with your healthcare provider:
Your alcohol intake and strategies to quit or minimize alcohol use to prevent additional liver damage.
Your weight and strategies to achieve and maintain a healthy weight to prevent additional liver damage.
Vaccinations. In general, individuals with liver disease should receive vaccinations for hepatitis A and B, TDAP, yearly influenza vaccination, and be up to date with COVID vaccinations. Individuals with cirrhosis should also receive pneumonia vaccinations. A complete list of recommended vaccinations can be obtained from the CDC website on Vaccinations for those with liver disease. Any of these infections can cause your liver to become much sicker if you are not appropriately protected from vaccination.
If you have cirrhosis. If so, you will need to discuss things like regular endoscopies (to screen for varices), regular labs and imaging (to monitor liver function and screen for cancer), and management of liver complications. If you have cirrhosis, please also visit the patient information page on cirrhosis.
WHAT RESOURCES ARE AVAILABLE TO HELP ME?
