ABSTRACT
Alpha 1-antitrypsin (alAT) deficiency is a common hereditary disorder charac terized by a reduction of serum levels of alAT, emphysema, and liver disease (1-8). The description of alAT deficiency is an account of the power of modem biomedical research to link human disease to a pathobiological problem, define the pathogenesis of the disease state, and develop therapies to suppress the pathobiological processes and thus treat the disease. It is the purpose of this chapter to provide an overview of the biological and pathological underpinnings of alAT deficiency and to summarize the clinical manifestations of the disease and its treatment. Details of each of the topics discussed in this chapter can be found in the relevant specific chapters that follow.
