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脂肪营养不良症:一种遗传性疾病。

Lipedema: an inherited condition.

机构信息

Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK.

出版信息

Am J Med Genet A. 2010 Apr;152A(4):970-6. doi: 10.1002/ajmg.a.33313.

Abstract

Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas.

摘要

脂肪水肿是一种以下肢肿胀和增大为特征的病症,是由于皮下脂肪异常沉积所致。脂肪水肿是一种认识不足的病症,常被误诊为淋巴水肿或简单肥胖而被忽视。我们呈现了一系列家系,并提出脂肪水肿是一种具有 X 连锁显性遗传或更可能的性连锁显性遗传伴性别限制的遗传病症。脂肪水肿似乎是一种几乎只影响女性的病症,可能是雌激素依赖性的,因为它通常在青春期表现出来。脂肪水肿与肥胖不同,但由于临床重叠,可能被误诊为原发性肥胖。表型提示一种与肥胖不同的病症,并伴有疼痛、压痛和受影响区域容易出现瘀伤。

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