Rahman Muhammad O, Sulen Andre, Breivik Lars, Appel Silke, Anderson Mark S, Oftedal Bergithe E, Wolff Anette S B, Husebye Eystein S
Department of Clinical Science, Endocrine Medicine research group, University of Bergen, Bergen, Norway.
Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Autoimmunity. 2025 Dec;58(1):2461703. doi: 10.1080/08916934.2025.2461703. Epub 2025 Feb 19.
Immune-mediated lipodystrophy syndromes are rare autoimmune disorders characterized by complete or partial destruction of adipocytes in the body. Recently, autoantibodies against perilipin-1 (PLIN1-autoAbs) have been linked to lipodystrophy. Since various perilipins are expressed in the adrenal cortex and ovaries, we asked whether PLIN1-autoAbs were present in patients with adrenal dysfunction and other autoimmune endocrinopathies. Using a sensitive radiobinding immune assay we analyzed anti-PLIN1-autoAbs in 521 patients with endocrinopathies including Sjögren's syndrome. We identified 22 (4.2%) PLIN1-autoAbs positive patients, of whom 15% had autoimmune polyendocrine syndrome type 1 (4/27), 4% autoimmune Addison's disease and/or autoimmune polyendocrine syndrome type 2 (11/274), 8% type 1 diabetes patients (4/53), and 2% Sjögren's syndrome patients (1/50). However, none of them had known lipodystrophy. In conclusion, PLIN1-autoAbs are found in subgroups of autoimmune endocrinopathies and indicate autoimmunity against adipose tissue, but their pathogenic role if any, remains to be defined. Investigating their role in disease progression and their potential as therapeutic targets could pave the way for novel interventions in autoimmune endocrine diseases.
免疫介导的脂肪营养不良综合征是罕见的自身免疫性疾病，其特征是体内脂肪细胞完全或部分破坏。最近，抗周脂素-1自身抗体（PLIN1-自身抗体）与脂肪营养不良有关。由于各种周脂素在肾上腺皮质和卵巢中表达，我们询问PLIN1-自身抗体是否存在于肾上腺功能不全和其他自身免疫性内分泌病患者中。我们使用灵敏的放射结合免疫测定法分析了521例包括干燥综合征在内的内分泌病患者的抗PLIN1-自身抗体。我们鉴定出22例（4.2%）PLIN1-自身抗体阳性患者，其中15%患有1型自身免疫性多内分泌综合征（4/27），4%患有自身免疫性艾迪生病和/或2型自身免疫性多内分泌综合征（11/274），8%为1型糖尿病患者（4/53），2%为干燥综合征患者（1/50）。然而，他们中没有人患有已知的脂肪营养不良。总之，PLIN1-自身抗体在自身免疫性内分泌病亚组中被发现，表明存在针对脂肪组织的自身免疫，但它们的致病作用（如果有的话）仍有待确定。研究它们在疾病进展中的作用及其作为治疗靶点的潜力可能为自身免疫性内分泌疾病的新型干预措施铺平道路。
