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