Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, UK.
Department of Clinical Genetics, St Georges Hospital and St George's, University of London, London, UK.
Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552.
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients.
淋巴水肿是淋巴液积聚导致组织肿胀。它最常影响外周组织。诊断基于临床评估和淋巴闪烁成像。治疗以支持性治疗为主，包括使用压缩服装、按摩、良好的皮肤卫生和及时使用抗生素，以避免蜂窝织炎等并发症。淋巴水肿最常见于手术后、创伤、放疗或感染导致的淋巴系统损伤。但是，它也可能是原发性的，常与导致淋巴系统发育障碍的遗传缺陷有关。与淋巴水肿相关的常见遗传疾病包括特纳综合征和努南综合征；然而，还有许多其他疾病可以根据其临床表现和相关特征进行分类。本文讨论了如何诊断和分类已知的原发性淋巴水肿，并讨论了如何最好地对这组患者进行检查和管理。
