[MIM 153 100](Nonne-Milroy disease, congenital Lymphedema type I)

The prevalence of primary lymphedema is estimated at 1/6000. Autosomal dominant transmission of a mutation of the FLT4 gene that codes for Vascular Endothelial Growth Factor 3 (VGFR-3). The lymphatic drainage dysfunction most often affecting the lower limbs and bilaterally; however, unilateral or localized forms (foot) are observed.

Initially, the obstruction of lymphatic drainage causes soft, reversible edema; however the accumulation of proteins in the extracellular tissue stimulates the proliferation of fibroblasts and the edema becomes increasingly hard and eventually irreversible. These swollen tissues are at high risk of infection (cellulitis, erysipelas).

Different types:

• primary lymphedema:

-        congenital or Milroy disease: begins between birth and 3 years (10%); in boys, a hydrocele or malformations of the urethra can be associated.

-        precocious or Meige disease, probably linked to a mutation of GJC2 gene: begins before the age 35 years (80%) [MIM 153 200]

-        late: onset after the age of 35 years (10%)

• secondary lymphedema: following infection (filariosis in endemic countries), chronic venous stasis with secondary infections or surgery.

Anesthetic implications: 

avoid any skin trauma to the affected limb

References : 

• Kitsiou-Tzeli S, Vrettou C, Leze E et al. 
  Milroy’s primary congenital lymphedema in a male infant and review of the literature. 
  In Vivo 2010; 24: 309-14.
• Vignes S, Vidal F, Arrault M, Boccara O.
  Les lymphoedèmes primaires de l’enfant.
  Arch Pédiatr 2017; 24: 766-76

Updated: August 2017