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Lymphatic dysfunction, not aplasia, underlies Milroy disease.

Russell H Mellor1, Charlotte E Hubert, Anthony W B Stanton

  • 1Cardiac & Vascular Sciences (Dermatology), St George's Hospital Medical School, University of London, London, UK.

Microcirculation (New York, N.Y. : 1994)
|June 12, 2010
PubMed
Summary

Milroy disease, caused by VEGFR-3 mutations, leads to severe lymphoedema due to initial lymphatic functional failure, not just reduced density. This also impacts venous development.

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Area of Science:

  • Vascular biology
  • Genetics
  • Human physiology

Background:

  • Milroy disease is an inherited autosomal dominant lymphoedema.
  • It is caused by mutations in the vascular endothelial growth factor receptor-3 (VEGFR-3) gene.
  • The condition was previously attributed solely to lymphatic aplasia.

Purpose of the Study:

  • To investigate the underlying structural and functional defects in Milroy disease.
  • To clarify the mechanisms of lymphoedema in humans with VEGFR-3 mutations.

Main Methods:

  • Fluorescence microlymphangiography to assess functional lymphatic density.
  • Immunohistochemistry (podoplanin, LYVE-1) to evaluate structural lymphatic density.
  • Color Doppler duplex ultrasound to assess leg vein function.

Main Results:

  • Profound functional failure (86-91%) of initial lymphatics in the foot.
  • Reduced dermal lymphatic density in the foot (51-61%) and forearm (26-33%).
  • Saphenous venous reflux observed in 9/10 individuals with VEGFR-3 mutations.

Conclusions:

  • VEGFR-3 mutations cause lymphoedema via impaired tissue fluid and protein absorption due to functional lymphatic failure.
  • Reduced lymphatic density alone does not fully explain the phenotype.
  • VEGFR-3 plays a role in both lymphatic and venous development, as evidenced by venous valve reflux.