The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
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脂肪营养不良综合征的诊断和管理：多社会实践指南。
DOI：
10.1210/jc.2016-2466
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发表时间：
2016-12
期刊：
影响因子：
--
通讯作者：
Yorifuji T
中科院分区：
文献类型：
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作者：
Brown RJ;Araujo-Vilar D;Cheung PT;Dunger D;Garg A;Jack M;Mungai L;Oral EA;Patni N;Rother KI;von Schnurbein J;Sorkina E;Stanley T;Vigouroux C;Wabitsch M;Williams R;Yorifuji T
脂肪营养不良综合征是极其罕见的身体脂肪缺乏疾病，与潜在的严重代谢并发症有关，包括糖尿病、高甘油三酯血症和脂肪性肝炎。由于其罕见，大多数临床医生对其诊断和治疗并不熟悉。本实践指南总结了与 HIV 或注射药物无关的脂肪营养不良综合征的诊断和治疗。十七名参与者由世界内分泌学会提名或由委员会选为内容专家。资金来自阿斯利康向儿科内分泌协会提供的无限制教育补助金。会议不向公众开放。委员会进行了文献综述。委员会的建议采用美国心脏协会的系统进行分级。当公布的数据不可用或稀缺时，会使用专家意见。该指南由委员会成员起草，并在小组会议上由整个委员会审查、修订和批准。贡献协会审查了该文件并获得批准。脂肪营养不良综合征具有异质性，通过临床表型诊断，并辅以某些形式的基因检测。大多数患有脂肪营养不良综合征的患者应每年筛查糖尿病、血脂异常以及肝、肾和心脏病。饮食对于治疗脂肪营养不良的代谢并发症至关重要。美曲普汀治疗对患有全身性脂肪营养不良的低瘦血症患者和部分患有部分脂肪营养不良的患者的代谢并发症有效。其他非针对脂肪营养不良的治疗方法也可能有帮助（例如，二甲双胍治疗糖尿病，他汀类药物或贝特类药物治疗高脂血症）。禁忌口服雌激素。全球多个内分泌学会根据现有证据制定了脂肪营养不良综合征的诊断和治疗实践指南。
Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts. Funding was via an unrestricted educational grant from Astra Zeneca to the Pediatric Endocrine Society. Meetings were not open to the general public. A literature review was conducted by the committee. Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were unavailable or scarce. The guideline was drafted by committee members and reviewed, revised, and approved by the entire committee during group meetings. Contributing societies reviewed the document and provided approval. Lipodystrophy syndromes are heterogeneous and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms. Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually. Diet is essential for the management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabetes, and statins or fibrates for hyperlipidemia). Oral estrogens are contraindicated. Multiple worldwide endocrine societies developed practice guidelines for diagnosis and management of lipodystrophy syndromes based on current evidence.