Department of Medicine, Beaumont Hospital, Dublin, Ireland; Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland.
Department of Dermatology, Beaumont Hospital, Dublin, Ireland.
J Am Acad Dermatol. 2022 Oct;87(4):825-832. doi: 10.1016/j.jaad.2021.01.074. Epub 2021 Jan 29.
Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series. We sought to clarify typical features and investigation of AATD-associated panniculitis and assess the evidence regarding therapeutic options.
Articles and abstracts published between 1970 and 2020 were identified by searches of MEDLINE, PubMed, and secondary searches of references from relevant articles using the search terms "panniculitis," "alpha-1," "antitrypsin," "deficiency," and "Weber-Christian."
We identified 117 cases of AATD-associated panniculitis. In 1 series, AATD was present in 15% of all cases of biopsy-proven panniculitis. Failure to achieve clinical response was seen in all instances of systemic steroid use. Dapsone, although effective and accessible, is frequently associated with failure to achieve remission. In these instances, intravenous AAT augmentation therapy generally resulted in response.
AATD may be more prevalent among patients presenting with panniculitis than previously thought. Patients presenting with panniculitis and systemic illness show high mortality risk. Although most cases are associated with the severe ZZ-genotype, moderate genotypes may also predispose to panniculitis. Dapsone remains the most cost-effective therapeutic option, whereas intravenous AAT augmentation remains the most efficacious. Finally, glucocorticoids appear ineffective in this setting.
脂膜炎是α-1 抗胰蛋白酶缺乏症（AATD）的一种罕见且潜在致命的表现形式。关于这种疾病的管理的证据仅限于病例报告和小病例系列。我们旨在阐明与 AATD 相关的脂膜炎的典型特征和检查，并评估治疗选择的证据。
通过对 MEDLINE、PubMed 进行检索，并使用“脂膜炎”、“α-1”、“抗胰蛋白酶”、“缺乏”和“Weber-Christian”等检索词对相关文章的参考文献进行二次检索，确定了 1970 年至 2020 年期间发表的文章和摘要。
我们共确定了 117 例与 AATD 相关的脂膜炎病例。在一个系列中，AATD 在所有经活检证实的脂膜炎病例中占 15%。全身性类固醇治疗的所有病例均未达到临床缓解。尽管达普司酮有效且易于获得，但它常常与缓解失败相关。在这些情况下，静脉内 AAT 增强治疗通常会产生反应。
与之前的想法相比，AATD 在出现脂膜炎的患者中可能更为普遍。出现脂膜炎和全身疾病的患者死亡率风险较高。尽管大多数病例与严重的 ZZ 基因型相关，但中度基因型也可能导致脂膜炎。达普司酮仍然是最具成本效益的治疗选择，而静脉内 AAT 增强治疗仍然是最有效的治疗方法。最后，糖皮质激素在这种情况下似乎无效。
