Ulcerative panniculitis with fevers and pleural effusions: A unique case of α1-antitrypsin deficiency

AAT: a1-antitrypsin A lpha1-antitrypsin (AAT) is a serine protease inhibitor that prevents enzymatic degradation of normal human tissue. The Z allele of the AAT gene locus (designated PI ) is the most frequent deficient mutation, with the PiZZ phenotype responsible for 95% of severe AAT deficiency cases. Severe deficiency is often underdiagnosed and classically leads to pulmonary and hepatic disease. Panniculitis is an unusual complication of AAT deficiency with prevalence of less than 0.1%. The panniculitis is characterized by refractory, painful nodules that ulcerate with oily or sanguineous drainage. We describe a unique inflammatory presentation of AAT deficiency that was characterized by recurrent fevers, ulcerative panniculitis, and pleural effusions. The classic findings of emphysema, bronchiectasis, and overt liver injury were absent.