Storan E R, O' Gorman S M, Hawkins P, Aalto L, Murphy A, Markham T
Department of Dermatology, Galway University Hospital, Galway, Ireland.
Department of Respiratory Medicine, Beaumont Hospital, Dublin, Ireland.
Clin Exp Dermatol. 2017 Jul;42(5):520-522. doi: 10.1111/ced.13102. Epub 2017 May 17.
Alpha-1-antitrypsin deficiency (AATD)-related panniculitis is an extremely rare and underdiagnosed entity, and there is a paucity of data on its treatment. We report two cases of AATD-related panniculitis. The first was a 24-year-old woman with known AATD who presented with painful leg ulcers refractory to treatment with corticosteroids and colchicine. She had a good response to α1-antitrypsin infusions but required dose adjustment due to flares in disease activity. The second case was a 38-year-old woman who presented with painful nodules on the legs refractory to corticosteroid therapy. Laboratory investigations revealed severe AATD. She had an excellent response to colchicine therapy. In both these cases of AATD, panniculitis was the first clinical manifestation of the disease. AATD-related panniculitis may have none of the typical clinical clues for AATD, such as a family history, cirrhosis or emphysema. Early identification may help prevent these complications from developing.
α-1抗胰蛋白酶缺乏症（AATD）相关的脂膜炎是一种极其罕见且诊断不足的疾病，关于其治疗的数据很少。我们报告两例AATD相关的脂膜炎病例。第一例是一名24岁已知患有AATD的女性，她出现腿部疼痛性溃疡，对皮质类固醇和秋水仙碱治疗无效。她对α1抗胰蛋白酶输注反应良好，但由于疾病活动发作需要调整剂量。第二例是一名38岁女性，她出现腿部疼痛性结节，对皮质类固醇治疗无效。实验室检查显示严重AATD。她对秋水仙碱治疗反应极佳。在这两例AATD病例中，脂膜炎均为该疾病的首发临床表现。AATD相关的脂膜炎可能没有AATD的典型临床线索，如家族史、肝硬化或肺气肿。早期识别可能有助于预防这些并发症的发生。
