Ätiologie und Epidemiologie des primären Lymphödems^[*]

Zusammenfassung

Eine beträchtliche Zahl Patientinnen und Patienten mit einem Lymphödem leiden an einer genetisch bedingten Form, dem primären Lymphödem. Fundierte epidemiologische Daten sind allerdings spärlich. Die vorliegende Übersichtsarbeit fasst den derzeitigen Stand des Wissens über die vielfältigen genetischen Ursachen und Grundlagen zusammen. Die Zusammenstellung umfasst folgende Erkrankungen und Syndrome: Klippel-Trenaunay, Nonne-Milroy, Waver und Sotos, Lissenzephalie vom Norman-Roberts-Typ, Buschke-Ollendorff, Noonan, Aagenaes, Meige, Lymphödem-Distichiasis, Yellow-Nail, Lymphödem und Ptosis, Hypotrichose-Lymphödem-Teleangiektasie, Kanzaki-Krankheit, Lymphödem-Mikrozephalie (-Chorioretinopathie), unilaterale Gigantomastie, Hennekam, rezessives kongenitales Lymphödem, Aarskog-Scott, OLEDAID, Lymphödem-Hypoparathyreoidismus, Campomelie vom Cumming-Typ sowie Swyer.

Summary

A considerable number of patients suffer from genetically caused primary lymphoedema. Nevertheless, sound epidemiological data are sparse. This review summons the current knowledge on the genetic reasons and foundations. The review covers the following diseases and syndromes: Klippel-Trenaunay, Nonne-Milroy, Waver and Sotos, Lissencephalia (Norman-Roberts-Type), Buschke-Ollendorff, Noonan, Aagenaes, Meige, Lymphoedema-Distichiasis, Yellow-Nail, Lymphoedema and Ptosis, Hypotrichosis-Lymphedema-Teleangiectasia, Kanzaki-Disease, Lymphoedema-Microcephaly (-Chorioretinopathy), unilateral Giant Breast, Hennekam, congenital recessive lymphoedema, Aarskog-Scott, OLEDAID, Lymphoedema-Hypoparathyreoidism, Campomelia (Cumming-Type), and Swyer.

Résumé

De nombreux patients souffrent d’un lymphoedème primaire déterminé génétiquement. Néanmoins les publications à ce sujet sont rares. Cette publication résume les connaissances actuelles sur les causes génétiques et les origines connues du lymphoedème. Cette revue concerne différents syndromes et maladies : Klippel-Trenaunay, Nonne-Milroy, Waver et Sotos, Lissencephalie (de type Norman-Roberts), Buschke-Ollendorf, Noonan, Aagenaes, Meige, Distichiasis, Yellow Nail, lymphoedème et ptose, maladie de Kanzaki, association de lymphoedème avec télangiectasies et hypotrichose, lymphoedème et microcéphalie (avec choriorétinopathie), gigantisme mammaire unilatéral, Hennekam, lymphoedème congénital de type récessif, Aarskog-Scott, Oledaid, lymphoedème et hypoparathyroïdisme, Campomélie (de type Cumming), Swyer. Il s’agit donc d’une revue de l’étiologie et de l’épidémiologie du lymphoedème primaire.

Schlüsselwörter

Lymphödem

Keywords

Lymphoedema

Mots clés

Lymphoedème

^* Die gegenständliche Arbeit entstand aus dem ersten Teil einer Dissertation, die an der Division für klinisch-funktionelle Anatomie, Department für Anatomie, Histologie und Embryologie, der Medizinischen Universität Innsbruck erstellt wurde (110).

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