Zapalenie tkanki podskórnej u nosicielki deficytowego wariantu S genu dla α1-antytrypsyny leczone skutecznie infliksymabem – opis przypadku

Abstract

Introduction. Panniculitis is one of the rarest manifestations of α1-antitrypsin (AAT) deficiency. The disease is characterised by a typicalclinical picture with inflammatory tumours, necrosis, ulcerations, fistulasand oily liquid. It is usually accompanied by decreased AAT levelwhich may be a high risk factor of systemic life-threatening symptoms.There are some cases of patients with typical manifestation of AATrelatedpanniculitis and normal AAT level in the serum. It may be relatedto high polymorphism of the SERPINA 1 gene. Different effects oftreatment with dapsone, glucocorticosteroids or doxycycline arereported.Objective. To present a rare case of α1-antitrypsin-related panniculitis(MS phenotype) treated effectively with infliximab. Particular attentionis paid to the diagnostic aspects of abnormalities in the SERPINA 1 gene.Case report. The case of a 52-year-old patient with recurrent inflammatoryinfiltrates and abscesses located within the forearm and chest,accompanied by severe pain and febrile states, is reported. In laboratorytests there were no abnormal results. Histopathological examinationrevealed the typical picture for panniculitis. Because of non-healingulcers, abscesses and fistulas with oily liquid, despite normal levels ofα1-antitrypsin in plasma, genotyping was performed. The S mutationin the SERPINA 1 gene was confirmed. The routine therapy gave nosatisfactory results or was badly tolerated. Complete remission wasachieved after 14 infliximab infusions at a dose of 5 mg/kg.Conclusions. We believe that infliximab may be regarded as an alternativedrug in therapy of severe cases of α1-antitrypsin-related panniculitis.

Keywords

• panniculitis
• α1-antitrypsin
• infliximab