The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is...

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Bibliographic Details
Published inClinical genetics Vol. 84; no. 4; pp. 303 - 314
Main Authors Connell, FC, Gordon, K, Brice, G, Keeley, V, Jeffery, S, Mortimer, PS, Mansour, S, Ostergaard, P
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.10.2013
Subjects
Algorithms
Classification
Diagnostics
FLT4/VEGFR3
FOXC2
GATA2
generalized lymphatic dysplasia
GJC2
Humans
KIF11
Lymphatic system
Lymphedema - classification
Lymphedema - diagnosis
lymphoedema
Molecular biology
phenotyping
VEGFC
FOXC2
generalized lymphatic dysplasia
FLT4/VEGFR3
GJC2
VEGFC
lymphoedema
KIF11
GATA2
phenotyping
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Summary:Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.
Bibliography:istex:5F2A7654CD7C9DAA3534AE59F2161DEBE4B4372A
ArticleID:CGE12173
ark:/67375/WNG-90B81KQJ-0
These two authors contributed equally to this article.
All authors declare no conflict of interest.
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12173