Lymphedema, primary Q82.0

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

Synonym(s)

chronic hereditary; congenital; elephantiasis congenita hereditaria; hereditary; hereditary congenital lymphedema; hereditary lymphedema; Lymphedema; Meige-Nonne-Milroy syndrome; Nonne-Milroy-Meige syndrome; Trophodema; Trophödem chronic hereditary; Trophoedème chronique héréditaire

History
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Nun, 1891; Milroy, 1892; Meige, 1898

Definition
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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

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Classification
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S.u. lymphedema.

Occurrence/Epidemiology
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About 35-40% of the lymphedema clientele suffers from primary lymphedema.

Etiopathogenesis
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Etiological classification:

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.

Manifestation
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Women are affected 5-6 times more frequently than men.

Localization
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Lower extremity

Diagnosis
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Clinical picture is diagnostic.

Complication(s)
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Chronic erysipelas, therapy-resistant ulcus cruris, increasing physical immobility with consecutive obesity; elephantiasis nostras.

Therapy
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Only symptomatic therapy possible. Lymph drainage and lymph massage. Trial with compression bandages or compression stockings of higher compression classes (III and IV), if possible custom-made adjustment. If necessary, additional attempt at plastic surgery measures, see lymphedema below.

Literature
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Meige H (1898) Dystrophy oedemateuse hereditaire. Press Med 6: 341-343
Meige H (1899) Le trophoedème chronique héréditaire. Nouvelle iconographie de la Salpêtrière (Paris) 12: 453-480
Milroy WF (1892) An undescribed variety of hereditary edema. New York Medical Journal 56: 505-508
Milroy WF (1928) Chronic hereditary edema: Milroy's disease. JAMA 91: 1172-1175
Nun M (1891) Four cases of elephantiasis congenita hereditaria. Virchows Arch pathol Anat Physiol klin Med (Berlin) 189-196