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

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

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

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

RESULTS: 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.

CONCLUSION: 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.