ABSTRACT
Alpha 1-antitrypsin (alAT) deficiency, one of the most common lethal hereditary disorders affecting Caucasians of European descent, is characterized by a marked reduction in serum levels of alAT and a high risk for the development of emphysema by ages 30-40 years (1-5). There is also a lesser risk for the development of liver disease (3,5,6) and, very rarely, individuals with alAT deficiency develop panniculitis (1,3,7). alA T deficiency was first noted in Sweden in 1963, when Laurell and Eriksson described five individuals lacking an alpha 1-globulin band in electrophoretic analysis of serum, three of whom had significant pulmonary disease. Although the allelic frequency of the Z mutation, the most common mutation associated with the deficiency state, is between 0.01 and 0.02 in North American Caucasians (3,8-12) and 0.02 and 0.03 in northern Europeans (3,13,14), the number of individuals definitively diagnosed with alAT deficiency in these regions is far short of expected, suggesting that many individ uals with the condition are either undiagnosed or misdiagnosed.
