Familial Emphysema Associated with Antitrypsin Deficiency

¹ Department of Medicine St. Luke's Hospital Bethlehem, Pennsylvania
² Chief, Department of Medicine and Assistant Clinical Professor of Medicine, Jefferson Medical School

Alpha₁-antitrypsin is the principle antitrypsin in the body and major component of alpha₁-globulin. There is a high incidence of emphysema occurring in association with a familial deficiency of serum alpha₁-antitrypsin. The emphysema develops at an early age and is more prone to occur in females. It has been proposed that alpha₁-antitrypsin deficiency is inherited as either an autosomal recessive or codominant. Homozygotes have less than ten percent serum antitrypsin activity while heterozygotes have about 50 percent activity. As emphysema does not invariably occur in the homozygotes deficient individual, other as yet unknown factors must exist. This paper describes a young woman patient with severe pulmonary emphysema and antitrypsin deficiency which was first suspected by the absence of the alpha₁-globulin fraction in her serum protein electrophoretic pattern. Studies of her family demonstrated other similarly afflicted members. Protein electrophoresis and immunophoresis appear to be convenient screening procedures for alpha₁-antitrypsin deficiency.