|
Alpha-1 antitrypsin deficiency Causes and Risks:
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 unknown, although it may be related to inflammation. Up to 25% of children with AAT deficiency develop liver cirrhosis . Approximately 75% of adults with this deficiency develop emphysema. The emphysema often begins before 40 years of age and occurs more frequently than expected in women. The incidence of AAT deficiency is 1 out of 10,000 people.
Prevention:
There is no known prevention for this genetic defect.
Symptoms:
Additional symptoms that may be associated with emphysema or cirrhosis :
Signs and Tests:
Prenatal tests can indicate this deficiency before birth. Physical examination reveals a barrel-shaped chest and edema (accumulation of fluid in the tissues). Listening to the chest with a stethoscope ( auscultation ) reveals wheezing .
This disease may also alter the results of a protein electrophoresis - serum test.
Treatment:
There is no specific treatment for the deficiency itself. The symptoms of liver cirrhosis and emphysema should be treated.
If the deficiency is detected before symptoms are present, treatment should be aimed at prevention of disease, including education to avoid smoking and general health measures.
Prognosis:
Some people with this deficiency will not develop liver or lung disease . Emphysema and cirrhosis are both progressive diseases with poor prognoses (probable outcomes).
Complications:
Call Your Healthcare Provider:
Call for an appointment with your health care provider if symptoms indicate alpha-1 antitrypsin deficiency may be present.
This is an illustration of the major features of the lungs and bronchial tree. The inset is of the alveoli. They are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.
|
