Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency

Definition:

A deficiency of a protein produced in the liver that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease.

Alternative Names:

AAT deficiency

Causes, incidence, and risk factors:

Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known, however some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.

Symptoms:

shortness of breath
shortness of breath during mild exertion
unintentional weight loss
wheezing

Additional symptoms that may be associated with emphysema or cirrhosis:

thirst, excessive
fatigue
light-headedness or fainting while standing
ankle, feet, and leg swelling
slow, sluggish, lethargic movement
skin rash or lesion on the hands or feet, redness
paleness
headache
vision abnormalities
dry mouth
increased front-to-back diameter of the chest (barrel shaped chest)
abnormal breathing pattern, exhalation takes more than twice as long as inspiration
rapid heart rate (tachycardia) when rising to a standing position
vomiting blood
vomiting containing material that looks like coffee grounds
abdomen, swollen or increased abdominal circumference (girth)
bloody or dark black or tarry bowel movements (melena)
breast development in males
impotence
confusion
impaired concentration
daytime sleepiness
difficulty falling asleep or staying asleep (insomnia)
awakening from sleep not feeling rested
agitation
fluctuating mood
irritability or poor temper control
difficulty paying attention (attention deficit)
impaired judgment
memory loss

Signs and tests:

Physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope (auscultation) may reveal wheezing, crackles, and/or decreased breath sounds. The following tests may also help diagnosis:

Treatment:

Replacement (or "augmentation") therapy with the missing AAT protein is available, however, it is not known how effective this is once disease has developed or which people would benefit most. Certainly, smoking avoidance or cessation is crucial. Other treatments include bronchodilators and prompt antibiotics for upper respiratory tract infections.

Expectations (prognosis):

Some people with this deficiency will not develop liver or lung disease. Emphysema and cirrhosis, however, are both progressive diseases which can kill.

Complications:

Calling your health care provider:

Call your health care provider if you have symptoms like those listed above.

Prevention:

There is no known prevention for this genetic defect.

Review Date: 12/2/2001
Reviewed By: Steven Kawut, M.D., Division of Pulmonary, Allergy, and Critical Care Medicine, Columbia University College of Physicians and Surgeons, New York City, NY. Review provided by VeriMed Healthcare Network.

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