Summary

Congenital lymphoedema is a primary lymphoedema (see this term), occurring before the age of 2 years. Prevalence is unknown. Congenital lymphoedema represents less than 10% of primary lymphoedema. Female individuals are affected twice as often as male individuals. In most cases, lymphoedema affects lower limbs (starting with the foot), but can also affect upper limbs. It occurs at birth or soon after and is most often bilateral. The aetiology is unknown. The disease is associated with lymphatic pathway dysplasia, aplasia or hypoplasia. Most cases are sporadic, but familial forms exist. The most frequent is Milroy disease, transmitted following an autosomal dominant pattern with incomplete penetrance. Mutations of the VEGFR3 gene (also referred to as FLT4, in 5q 35-3), have been detected in several affected families. This gene codes for vascular endothelial growth factor receptor 3. Milroy disease represents 2% of the cases of primitive lymphoedema. Other transmission patterns have been described in some familial forms. In a same family, there are variations in the topography of lymphoedema (one or two affected limbs) and in the onset (forms with neonatal or antenatal onset as well as later forms). Lower limb lymphoscintigraphy can be used to confirm the diagnosis. Differential diagnoses include other causes of oedema and Turner and Noonan syndromes (see these terms). In some cases of antenatal onset, oedema might be observed through ultrasonography, particularly on feet. Management first includes a treatment phase with minimally elastic bandages in order to reduce the size of the oedema. It is followed by a maintenance phase, during which elastic compression garments (socks, stockings) are required to maintain reduced volume, together with skin care to prevent infections and manual lymphatic drainage. Lymphoedema is a chronic disease, which requires sustained management in order to prevent worsening of the condition and onset of complications, such asinfectious events.

Expert reviewer(s)

• Dr Stephane VIGNES