A 32 year old male with idiopathic hepatic encephalopathy and necrotic lower extremity

• Main Authors: Schmitz ED, Raschke RA
• Format: Article
• Language: English
• Published: Arizona Thoracic Society 2010-11-01
• Series: Southwest Journal of Pulmonary and Critical Care
• Subjects: alpha-1 antitrypsin deficiency; dietary supplements; liver failure; panniculitis; sepsis
• Online Access: http://www.swjpcc.com/case-presentations/2010/11/19/a-32-year-old-male-with-idiopathic-hepatic-encephalopathy-an.html

A 32 year old with undiagnosed alpha-1 antitrypsin deficiency had an unusual initial presentation of acute liver failure, septic shock; adult respiratory distress syndrome and what appeared to be a left lower extremity soft tissue infection. Skin biopsy revealed panniculitis. Because of the diagnosis of panniculitis, an alpha-1 antitrypsin level was ordered and demonstrated alpha-1 antitrypsin deficiency with a ZZ phenotype. The patient recovered with antibiotics and supportive therapy. This case illustrates that alpha-1 antitrypsin deficiency can present other that the more usual adult presentation of progressive emphysema. Unexplained panniculitis should prompt investigation of alpha-1 antitrypsin deficiency in the adult patient.