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

FC Connell, K Gordon, G Brice, V Keeley… - Clinical …, 2013 - Wiley Online Library
FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour, P Ostergaard
Clinical genetics, 2013Wiley Online Library
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 …
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.
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