Vanderbilt Heart

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is the lack of a liver protein. This protein prevents certain enzymes from having damaging effects on your body. People with this condition often develop emphysema and cirrhosis.

Early symptoms include:

• Shortness of breath
• Unexpected weight loss
• Wheezing
• Difficulty catching your breath
• Chronic cough

See Symptoms for additional symptoms.

If you are a smoker who has been diagnosed with this condition, it is very important that you quit smoking. Because alpha-1 antitrypsin deficiency is a genetic disorder, relatives of people who have it should be tested.

Diagnosis

Diagnosing alpha-1 antitrypsin deficiency involves a physical examination and testing, which may include blood tests, chest x-rays, lung-function testing and genetic testing. The usual course of treatment is replacement of the missing protein. If emphysema or lung disease has begun to develop, those conditions must be managed through separate courses of treatment. Both develop progressively and can be fatal.

Symptoms

Additional symptoms are seen in people with alpha-1 antitrypsin deficiency. These are often linked to emphysema and cirrhosis:

• Abnormal breathing
• Irritability
• Moodiness
• Difficulty paying attention
• Dry mouth and excessive thirst
• Large front-to-back chest diameter
• Light-headedness or fainting while standing
• Loss of memory
• Confusion
• Pallor
• Rapid heart rate when standing
• Rashes or cuts on the hands or feet
• Headaches
• Swelling in the legs, ankles and feet
• Difficulty sleeping and feeling sleepy, even upon waking
• Bloody or dark black bowels
• Breast development (in males)
• Impotence (in males)
• Abdominal swelling
• Vision abnormalities
• Vomiting blood or dark material that looks like coffee grounds

Risk Factors

Potential risk factors include:

• Family history of alpha-1 antitrypsin
• Cigarette smoking

Related Links

Alpha-1 Association

ALPHA-1 Foundation