Research News: New collaborative publication by members of the Pediatric and Primary Lymphedema Working Group

A new article entitled Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis has just been published in the Journal of Medical Genetics.

Five of the authors are members of the Pediatric and Primary Lymphedema Working Group (PPL WG), including Professor Sahar Mansour (PPL WG Co-Chair), Dr. Kristiana Gordon, Dr. Vaughan Keeley, Katie Riches and Dr. Malou van Zanten.

Access the full article here

A second update of the St George’s classification algorithm (which aims to provide an accurate diagnosis for patients with lymphedema based on age of onset, areas affected by swelling and associated clinical features), that includes eight newly discovered genes and is in-line with the 2018 ISSVA classification for vascular anomalies, is presented in this article.

The results of an audit, the purpose of which was to determine how well the algorithm was performing as a diagnostic aid to classify patients with primary lymphatic anomalies and guide molecular testing, are also presented. It also highlights the areas where the genetic basis is still not known and where further research is needed. This valuable tool has already been presented to PPL WG and has led to many interesting discussions.

Reference:

Update and audit of the St George‘s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. J Med Genet. 2020 May 14:jmedgenet-2019-106084. doi: 10.1136/jmedgenet-2019-106084. Online ahead of print.PMID: 32409509