Alpha 1-antitrypsin deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) may present in a physical examination of the lungs as emphysema, liver dysfunction, and panniculitis in the skin.

Differential Diagnosis

• Adult hepatitis or cirrhosis of unclear origin
• Adult pulmonary emphysema
• Cachexia
• Hepatitis of unclear origin in children
• Hereditary, autosomal recessive alpha-1 antitrypsin deficiency
• Malnutrition
• Nephrotic Syndrome
• Nonphysiologic neonatal jaundice

Associated Conditions

α₁-antitrypsin deficiency has been associated with a number of diseases:

• COPD
• Asthma
• Wegener's granulomatosis
• Pancreatitis
• Gallstones
• Bronchiectasis (possibly)
• Prolapse[3]
• Primary sclerosing cholangitis
• Autoimmune hepatitis
• Emphysema
• Cancer
  • Hepatocellular carcinoma (liver)
  • Bladder carcinoma
  • Gallbladder cancer
  • Lymphoma
  • Lung cancer