Milroy Disease: A Case Report (Short Report)


Hereditary lymphoedema type I is a congenital onset primary lymphoedema with autosomal dominant inheritance, which is characterized by the swelling of the lower body. In this article, the authors report a case of a 32-year-old woman with repeating episodes of swollen limbs. Imaging studies and genetic study were carried out and a Milroy’s syndrome diagnosis was established. The patient started sintomatic treatment of the edema, with fitting stockings and descompressive massage, with symptomatic benefit.

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Pereira, G. , Moreira, J. , Macedo, V. and Santos, M. (2015) Milroy Disease: A Case Report. Case Reports in Clinical Medicine, 4, 349-351. doi: 10.4236/crcm.2015.411070.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Connell, F.C., Ostergaard, P., Carver, C., Brice, G., Williams, N., Mansour, S., Mortimer, P.S. and Jeffery, S. (2009) Analysis of the Coding Regions of VEGFR3 and VEGFC in Milroy Disease and Other Primary Lymphoedemas. Human Genetics, 124, 625-631.
[2] Brouilhard, P., Boon, L. and Vikula, M. (2014) Genetics of Lymphatic Anomalies. The Journal of Clinical Investigation, 124, 898-904.
[3] Gordon, K., Schulte, D., Brice, G., Simpson, M.A., Roukens, M.G., van Impel, A., Connell, F., Kalidas, K., Jeffery, S., Mortimer, P.S., Mansour, S., Schulte-Merker, S. and Ostergaard, P. (2013) Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema. Circulation Research, 112, 956-960.
[4] Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., Vikkula, M. and Shalev, S. (2006) Wide Clinical Spectrum in a Family with Hereditary Lymphedema Type I Due to a Novel Missense Mutation in VEGFR3. Journal of Human Genetics, 51, 846-850.
[5] Andrade, M. (2008) Linfangiogênese e genética dos linfedemas—Revisão da literatura. Jornal Vascular Brasileiro, 7, 256-261.
[6] Evans, A.L., Brice, G., Sotirova, V., et al. (1999) Mapping of Primary Congenital Lymphedema to the 5q35.3 Region. The American Journal of Human Genetics, 64, 547-555.
[7] Mellor, R.H., Hubert, C.E., Stanton, A.W.B., et al. (2010) Lymphatic Dysfunction, Not Aplasia, Underlies Milroy Disease. Microcirculation, 17, 281-209.
[8] Brice, G., Child, A.H., Evans, A., Bell, R., Mansour, S., Burnand, K., Sarfarazi, M., Jeffery, S. and Mortimer, P. (2005) Milroy Disease and the VEGFR-3 Mutation Phenotype. Journal of Medical Genetics, 42, 98-102.

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