Lymphedema pp 19-31 | Cite as

Genetic Causes of Lymphedema

  • Matthieu J. Schlögel
  • Pascal Brouillard
  • Laurence M. Boon
  • Miikka VikkulaEmail author


For this chapter, an extensive review of the literature regarding the genes and clinical presentations associated with primary lymphedema is performed. All the signs that have been mentioned for the patients with a proven mutation are catalogued. The phenotypes are divided into two groups depending on whether lymphedema is a primary or a secondary key for diagnosis. This should help clinicians to identify more easily the best candidate gene. Yet, because of the high number of associated genes and the large phenotypic variability, a panel approach to screen all genes at once is likely the most efficient approach for diagnosis.


Lymphedema Genetic Mutation Gene Sequencing Genotype–phenotype correlation Counseling Pathophysiology Diagnostics Symptoms 


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • Matthieu J. Schlögel
    • 1
  • Pascal Brouillard
    • 1
  • Laurence M. Boon
    • 2
  • Miikka Vikkula
    • 1
    • 3
    Email author
  1. 1.Laboratory of Human Molecular Genetics, de Duve InstituteUniversité catholique de LouvainBrusselsBelgium
  2. 2.Cliniques universitaires Saint-Luc, Center for Vascular AnomaliesUniversite catholique de LouvainBrusselsBelgium
  3. 3.Walloon Excellence in Lifesciences and Biotechnology (WELBIO)BrusselsBelgium

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