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Primary lymphedema and genetic implications

Sandro Michelini / Mrco Cardone / Paolo Maltese / Alice Bruson / Alessandro Fiorentino / Matteo Bertelli
Published Online: 2017-12-28 | DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S2.07


Primary lymphedema can be familial (in which more than one member of the same family has a lymphedema phenotype), syndromic (in which lymphedema is one symptom of a complex clinical syndrome) or sporadic (in which an isolated family member has lymphedema). All types of lymphedema are determined by genetic alteration of one or more genes. Not all the genes involved are known.

Keywords: lymphedema; genetic


  • 1. Northup KA, Witthe MH, Witte CL. Syndromic classification of hereditary lymphedema. Lymphology 2003; 36: 162-189.Google Scholar

  • 2. Connell F, Brice G, Jeffery S, Keele YV, Mortimer P, Smansour S. A new classification system for primary lymphatic dysplasias based on phenotype. Clin Gen 2010; 77 (5): 438-452.Google Scholar

  • 3 . Adams RH, Alitalo K. Molecular regulation of angiogenesis and lymphangiogenesis. Nat Rev Mol Cell Biol 2007; 8 (6): 464-478Web of ScienceCrossrefGoogle Scholar

  • 4. Alitalo K, Karkkainen M: VEGF-C and VEGF-D growth factor therapy for lymphedema. Abstract book of XIX international congress of Lymphology. Friburgo, 1-6 settembre 2003.Google Scholar

  • 5. Lee B., Andrade M., Bergan J., Boccardo F., Campisi C., Damstra R., Flour M., Gloviczki P., Laredo J., Piller N., Michelini S., Mortimer P., Villavicencio J. L.. Diagnosis and treatment of primary lymphedema. Consensus Document of the International Union of Phlebology (IUP)-2009. International Angiology 2010; 29(5):454-70.Google Scholar

  • 6. Lee BB, Antignani PL, Baroncelli TA, Boccardo FM, Brorson H, Campisi C, Damstra RJ, Flour M, Giannoukas A, Laredo J, Liu NF, Michelini S, Piller N, Rockson SG, Scuderi A, Szolnojy G, Yamamoto T IUA-ISVI Consensus for Diagnosis Guideline of chronic lymphedema of the limbs. Int Angiol 2014;18.Google Scholar

  • 7. Michelini S, Vettori A, Maltese PE, Cardone M, Bruson A, Fiorentino A, Cappellino F, Sainato V, Guerri G, Marceddu G, Tezzele S, Bertelli M. Genetic screening in a large cohort of Italian patients affected by primary lymphedema using next generation sequencing (NGS) approach. Lymphology 2016; 29: 57-72.Google Scholar

  • 8. Michelini S, De Giorgio D, Cestari M, Corda D, Ricci M, Cardone M, et al. Clinical and genetic study of 46 italian patients with primary lymphedema. Lymphology 2012; 45: 3-12.Google Scholar

  • 9. Michelini S, Bruson A, Cardone F, Sirocco A, Fiorentino S, Cecchin S, Cappellino F, Bertelli M. Clinical and genetic assessment of primary lymphedema. Lymphology 47: 19-24. Rome 2015-09-24Google Scholar

  • 10. Ferrel RE, Levinson KL, Esman JH, Komak MA, Lawrence EC, Barmada MM, Finegold DN. Hereditary lymphedema evidence for linkage and genetic heterogeneity. Hum Mol Genet 1998 ; 7 (13): 2073-8.Google Scholar

  • 11. Michelini S, Cardone M, Haag O, Agga M, Bruson A, Maltese PE, Bonizzato A, Bertelli MA rare case of Emberger syndrome caused by a de novo mtutation in the GATA2 gene. Lymphology 2016; 49:15-20.Google Scholar

About the article

Published Online: 2017-12-28

Published in Print: 2017-12-28

Citation Information: The EuroBiotech Journal, Volume 1, Issue s2, Pages 144–146, ISSN (Online) 2564-615X, DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S2.07.

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© 2018. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License. BY-NC-ND 4.0

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