Medical Genetics Unit, Clinical Developmental Sciences, St George's University of London, Cranmer Terrace, London SW170RE, UK.
Clin Genet. 2010 May;77(5):438-52. doi: 10.1111/j.1399-0004.2010.01394.x.
Traditional classification systems for lymphoedema are of limited use for the diagnosis of specific forms of primary lymphoedema. The understanding of primary lymphoedema has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on the age of onset: lymphoedema congenita manifests at or shortly after birth, lymphoedema praecox is apparent before the age of 35 years and lymphoedema tarda manifests thereafter. The clinical presentation in the spectrum of primary lymphoedema disorders is very variable; the phenotypes of primary lymphoedema conditions vary in the age of onset, site of the oedema, inheritance patterns, associated features and genetic causes. Different inheritance patterns are recognised and there are numerous associated anomalies. Some subgroups, such as Milroy disease and Lymphoedema distichiasis, are well characterised, but others are not. A new clinical classification for primary lymphoedema has been developed as a diagnostic algorithm. Its use is demonstrated on 333 probands referred to our lymphoedema clinic. Grouping patients by accurate phenotyping facilitates molecular investigations, understanding of inheritance patterns, and the natural history of different types of primary lymphoedema. Descriptions of the diagnostic categories, some of which have not been previously clearly defined as distinct clinical entities, are illustrated by clinical cases.
传统的淋巴水肿分类系统对于特定类型原发性淋巴水肿的诊断作用有限。原发性淋巴水肿的理解受到混淆术语和简单地根据发病年龄将患者分为三类的趋势的阻碍：先天性淋巴水肿在出生时或出生后不久出现，早发性淋巴水肿在 35 岁之前出现，迟发性淋巴水肿在此之后出现。原发性淋巴水肿疾病谱中的临床表现非常多样化；原发性淋巴水肿疾病的表型在发病年龄、水肿部位、遗传模式、相关特征和遗传原因方面存在差异。已经认识到不同的遗传模式，并且存在许多相关的异常。一些亚组，如米尔罗伊病和淋巴水肿双睫症，特征明确，但其他亚组则不然。已经开发了一种新的原发性淋巴水肿临床分类作为诊断算法。在我们的淋巴水肿诊所就诊的 333 名先证者中展示了其使用。通过准确的表型分组，便于进行分子研究、理解遗传模式以及不同类型原发性淋巴水肿的自然病程。通过临床病例说明了诊断类别描述，其中一些以前没有明确定义为不同的临床实体。
