Bhat Salman Zahoor, Brown Rebecca J, Banerjee Ronadip R
Division of Endocrinology, Diabetes, and Metabolism, John Hopkins School of Medicine, Baltimore, MD 21287, USA.
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
JCEM Case Rep. 2023 Jun 12;1(3):luad066. doi: 10.1210/jcemcr/luad066. eCollection 2023 May.
Lipodystrophy syndromes are rare metabolic disorders characterized by local or generalized loss of adipose tissue, resulting in insulin resistance, dyslipidemia, and cosmetic disfiguration. The lipodystrophic phenotype is highly variable, with partial lipodystrophy often missed or misdiagnosed as other diseases from a lack of a proper physical examination and low physician awareness. Correct diagnosis is important for optimal treatment and follow-up strategies in these patients. The use of GLP-1 analogs has not been systematically evaluated in lipodystrophy and could be a potential precision medicine therapy. We aim to make the reader, particularly generalists or endocrinologists outside of tertiary referral centers, aware of the presentation and clinical features of partial lipodystrophy, emphasize the role of a full physical examination in diagnosis, and discuss therapeutic options, including GLP-1-based glycemic management illustrated by our clinical case.
脂肪营养不良综合征是罕见的代谢紊乱疾病，其特征为局部或全身性脂肪组织缺失，导致胰岛素抵抗、血脂异常和外貌毁损。脂肪营养不良的表型高度可变，部分脂肪营养不良常因体格检查不当和医生认知不足而被漏诊或误诊为其他疾病。正确诊断对于这些患者的最佳治疗和随访策略至关重要。胰高血糖素样肽-1（GLP-1）类似物在脂肪营养不良中的应用尚未得到系统评估，可能是一种潜在的精准医学疗法。我们旨在让读者，尤其是三级转诊中心以外的全科医生或内分泌学家，了解部分脂肪营养不良的表现和临床特征，强调全面体格检查在诊断中的作用，并讨论治疗选择，包括以我们的临床病例为例的基于GLP-1的血糖管理。
