Images in Clinical Medicine

Alpha₁-Antitrypsin Deficiency

Sandra J. Shin, M.D., and Gary Meininger, M.D.

N Engl J Med 2000; 343:1933December 28, 2000

• Slide

Article

Figure 1 A 77-year-old woman with cirrhosis was admitted with a one-week history of altered sensorium. A prior evaluation of her liver disease disclosed only a serum alpha₁-antitrypsin level of 30 mg per deciliter (reference range, 93 to 224). The patient had no evidence of pulmonary disease. Eventually, she died of liver failure and complications of gram-negative sepsis. At autopsy the liver weighed 725 g (reference range, 1500 to 1800) and had extensive micronodular cirrhosis (Panel A). Trichrome staining of histologic sections demonstrated prominent fibrosis (blue staining in Panel B, ×100). Multiple diastase-resistant periodic acid–Schiff–positive cytoplasmic eosinophilic globules of various sizes were present within the hepatocytes (Panel C, ×400) — a characteristic of alpha₁-antitrypsin deficiency. The diagnosis was supported by immunohistochemical studies, which showed intense staining of these globules with alpha ₁-antitrypsin antibody (Panel D, ×200). The patient's 45-year-old daughter was subsequently evaluated and found to have a mildly decreased serum level of alpha₁-antitrypsin (86 mg per deciliter) and the MZ phenotype of alpha₁-antitrypsin deficiency on high-resolution electrophoresis.

Sandra J. Shin, M.D.
Gary Meininger, M.D.
New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, NY 10021