Alpha -1 Antitrypsin Deficiency

Ira Shah
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Alpha -1 Antitrypsin Deficiency - Presentation
In infancy, it presents as cholestasis. In some patients, the cholestasis is so severe that biliary atresia is suspected. In others, features suggestive of DIC and septicemia may be seen. The cholestatic phase is usually of a few months duration; later the clinical picture is dominated by progressive cirrhosis. In large number of PiZZ infants, there may be moderate hepatomegaly, with a temporary increase in liver enzymes and slightly conjugated hyperbilirubinemia. On biopsy of liver, PAS+ globules are a constant feature. A correlation between the subsequent clinical course and histologic features of the liver tissue during the initial cholestatic stage can be established:-
- When fibrosis is slight: all clinical manifestations disappear
- When fibrosis is extensive - cirrhosis with portal hypertension develops early. With cirrhosis, the liver function decreases, the lobes become fibrosed and there is fat accumulation. This leads to decreased vitamin absorption, decreased bilirubin and hormonal metabolism and decreased synthesis of albumin and other proteins.
In adults, the main clinical feature is emphysema. Alpha-1 emphysema is also called genetic emphysema and usually causes symptoms in patients when they are in their 30's or 40's . The initial symptom is breathlessness and later leads to chest deformity. Emphysema caused by alpha-1 antitrypsin deficiency is a progressive disease. The lower regions of the lungs are affected first, whereas in smokers, the damage first occurs in the upper portion of the lungs. In due course, the lungs become hyperinflated due to air trapping causing destruction of the lung tissue and flattening of the diaphragm occurs due to hyperinflation.Many patients may suffer from chronic bronchitis causing chronic cough. Asthma is also fairly common. It is characterized by wheezing, cough & shortness of breath. Panniculitis is an inflammation of subcutaneous fat causing formation of lumps and lesions. It may occur in both children as well as adults.


Alpha -1 Antitrypsin Deficiency Alpha -1 Antitrypsin Deficiency 03/05/2001
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