Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases

Alpha-1 antitrypsin deficiency (AATD) may be associated with liver and lung disease and rarely causes panniculitis.

We evaluated the clinicopathologic and laboratory findings of AATD panniculitis in 10 patients.

We conducted a retrospective review of all cases of AATD panniculitis at Mayo Clinic, Rochester, MN, from 1989 to 2016.

Ten patients with AATD panniculitis were included. Seven of ten were women. Clinical lesions were most commonly nodular (100%), erythematous (90%), ulcerated (90%), and painful (90%) subcutaneous nodules and plaques. Extracutaneous associations were rare. PiZZ phenotype was most commonly identified (50%). Histopathologically, lobular panniculitis (80%) with associated septal involvement (60%) and a predominant neutrophilic infiltrate (100%) were most common. Treatments varied; dapsone and alpha-1 proteinase inhibitor infusions were each used in five (50%) patients, respectively. In patients with greater than 6-month follow-up (n = 4), one patient continued to have disease activity despite treatment.

AATD panniculitis should be considered in the differential for a painful, ulcerative panniculitis with a predominantly neutrophilic histopathologic infiltrate. Diagnosis can be made with clinicopathologic correlation and genetic and laboratory evaluations. Serum AAT level and phenotype assists in diagnosing patients with suspected AATD panniculitis.