Lymphedema, primary Q82.0

Hereditary malformation (local aplasia or dysplasia) of the lymphatic system, which is caused on the one hand by mutations of individual genes, and on the other hand by chromosomal aberrations (anomalies in the structure or number of chromosomes).

In the case of chromosomal aberrations, syndromal clinical pictures with malformations in several organ systems in combination with lymphedema are found.

Lymphoedema can be described as hereditary if the transition of the mutated gene from parents to children can be traced.

Mutations can also occur spontaneously during somatic development. In these cases one speaks of sporadic (congenital) primary lymphedema

• Hypoplasia or aplasia of the lymph vessels
• Lymphangiectasia (dilation of the vessels leading to valvular hypoplasia)
• (primary) lymph node fibrosis, an embryonic malformation of lymph nodes with intact lymph vessels.

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