The genetic condition alpha 1 antitrypsin deficiency (AATD) affects the production and function of an antitrypsin protein known as alpha 1 antitrypsin (AAT). AAT protects the lungs and liver from damage caused by enzymes that break down proteins. AATD is caused by low levels or abnormal forms of AAT, which do not stop these enzymes from harming the tissues.
Each person inherits one copy of the gene that makes AAT from his or her mother and one copy from their father. If both copies of the gene are normal, then the individual will have normal levels of AAT and will not experience any symptoms or complications. The person, however, will have low levels or abnormal forms of AAT if one copy is mutated or deleted.
Some mutations can cause AATD. Some mutations affect only one copy of the gene (autosomal dominant), while others affect both copies (autosomal recessive). Some mutations cause mild or moderate symptoms, while others cause severe or life-threatening complications.
There are several symptoms of AATD, including chronic obstructive pulmonary disease (COPD), including emphysema and bronchiectasis. The symptoms include difficulty breathing, wheezing, coughing, chest tightness, and frequent respiratory infections. COPD usually begins between the ages of 30 and 50 and worsens with time.
Other symptoms of AATD may include:
Liver problems such as cirrhosis (scarring) or liver cancer
Skin problems such as panniculitis (inflammation) or ulcers
Eye problems such as dry eyes or glaucoma
Blood problems such as anemia or bleeding disorders
Bone problems such as osteoporosis or fractures
Neurological problems such as headaches or seizures
As a result of blood tests that measure the amount and type of AAT in the blood, AATD can be diagnosed. The most common test is serum electrophoresis, which separates proteins in the blood based on their size and charge. AATD is characterized by low levels of normal-sized proteins called alpha 1 globulins and high levels of abnormal-sized proteins called alpha 1 antitrypsins.
If there is a family history of AATD or if there are other symptoms suggestive of the disorder, genetic testing can confirm the diagnosis.
There is no cure for AATD, but treatments can help manage the symptoms and prevent complications. The main treatment for COPD is medication that opens up the airways and reduces inflammation in the lungs. In addition to bronchodilators (such as albuterol), corticosteroids (such as prednisone), antibiotics (such as azithromycin), mucolytics (such as acetylcysteine), and oxygen therapy, there are other medications as well.
Medications that reduce inflammation in the liver (such as corticosteroids) and surgery to remove damaged liver tissue (such as transplantation) are also effective treatments for liver problems. There are also treatments for skin problems such as medication that reduces inflammation in the skin (such as corticosteroids) and surgery to remove affected skin tissue (such as debridement).
There are also treatments for eye problems, including artificial tears (which lubricate the eyes) and laser surgery (which corrects vision problems caused by glaucoma). In addition to medications that help increase red blood cell production (such as erythropoietin), there are medications that help prevent bleeding disorders caused by low platelet count (such as aspirin). Bone problems can also be treated with medication (such as bisphosphonates) or surgery to repair bone fractures caused by osteoporosis (such as internal fixation). In addition to medication to relieve headaches and seizures caused by abnormal electrical activity in the brain, anticonvulsants can be used to treat neurological problems.
Avoiding smoking and other lung irritants such as dust, fumes, chemicals, and air pollution is the best way to prevent complications from AATD. It is also important to follow your doctor's recommendations for monitoring your condition and get regular checkups with your doctor.
The genetic condition alpha 1 antitrypsin deficiency (AATD) affects the production and function of an antitrypsin protein known as alpha 1 antitrypsin (AAT). AAT protects the lungs and liver from damage caused by enzymes that break down proteins. AATD is caused by low levels or abnormal forms of AAT, which do not stop these enzymes from harming the tissues.
Although AATD is incurable, treatments can be effective in managing its symptoms and preventing complications. The main treatment for COPD is medication that helps open up the airways and reduce inflammation in the lungs. Medications, surgery, and oxygen therapy can also be used to treat other problems.
In order to prevent complications from AATD, you should avoid smoking and exposure to other lung irritants. You should also follow your doctor's recommendations for monitoring your condition on a regular basis.
