Alpha-1 antitrypsin deficiency

Alternative Names

Symptoms

• Shortness of breath with and without exertion
• Unintentional weight loss
• Wheezing

• Abnormal breathing pattern (exhalation takes more than twice as long as inspiration)
• Agitation
• Ankle, feet, and leg swelling
• Awakening from sleep not feeling rested
• Bloody, dark black, or tarry bowel movements (melena)
• Breast development in males
• Confusion
• Daytime sleepiness
• Difficulty falling asleep or staying asleep (insomnia)
• Difficulty paying attention
• Dry mouth
• Excessive thirst
• Fatigue
• Fluctuating mood
• Headache
• Impaired concentration
• Impaired judgment
• Impotence
• Increased front-to-back diameter of the chest (barrel-shaped chest)
• Irritability or poor temper control
• Light-headedness or fainting while standing
• Memory loss
• Paleness
• Rapid heart rate when rising to a standing position
• Skin rash or lesion on the hands or feet, redness
• Slow, sluggish, lethargic movement
• Swollen abdomen or increased girth
• Vision abnormalities
• Vomiting blood
• Vomiting material that looks like coffee grounds

Exams and Tests

A physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope may reveal wheezing, crackles, or decreased breath sounds. The following tests may also help with diagnosis:

• Arterial blood gases
• Serum alpha-1 antitrypsin level
• Chest x-ray
• Pulmonary function test
• Genetic testing

References

Perlmutter, DH. Alpha-1-antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis. November 2004;8:839-859.

Stoller JK, Tomashefski J, Crystal RG, et al. Mortality in individuals with severe deficiency of alpha-1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry. Chest. April 2005;127:1196-1204.