Panniculitis in a patient with a deficit of S variant of the gene for α1-antitrypsin treated effectively with infliximab – case report

Introduction . Panniculitis is one of the rarest manifestations of α1-antitrypsin (AAT) deficiency. The disease is characterised by a typical clinical picture with inflammatory tumours, necrosis, ulcerations, fistulas and oily liquid. It is usually accompanied by decreased AAT level which may be a high risk factor of systemic life-threatening symptoms. There are some cases of patients with typical manifestation of AAT-related panniculitis and normal AAT level in the serum. It may be related to high polymorphism of the SERPINA 1 gene. Different effects of treatment with dapsone, glucocorticosteroids or doxycycline are reported.

Objective. To present a rare case of α1-antitrypsin-related panniculitis (MS phenotype) treated effectively with infliximab. Particular attention is paid to the diagnostic aspects of abnormalities in the SERPINA 1 gene.

Case report . The case of a 52-year-old patient with recurrent inflammatory infiltrates and abscesses located within the forearm and chest, accompanied by severe pain and febrile states, is reported. In laboratory tests there were no abnormal results. Histopathological examination revealed the typical picture for panniculitis. Because of non-healing ulcers, abscesses and fistulas with oily liquid, despite normal levels of α1-antitrypsin in plasma, genotyping was performed. The S mutation in the SERPINA 1 gene was confirmed. The routine therapy gave no satisfactory results or was badly tolerated. Complete remission was achieved after 14 infliximab infusions at a dose of 5 mg/kg.

Conclusions . We believe that infliximab may be regarded as an alternative drug in therapy of severe cases of α1-antitrypsin-related panniculitis.