Waldmann disease
| Classification according to ICD-10 | |
|---|---|
| I89.0 | Lymphedema, not elsewhere classified -
Lymphangiectasia |
| ICD-10 online (WHO version 2019) | |
The Waldmann's disease or primary intestinal Lymphangiectasia (PIL) is a very rare congenital disease with the main features Lymphangiectasia of the intestinal tract , enteropathy with protein loss , hypoalbuminaemia with edema in the legs and genital and gingival hyperplasia .
The name refers to the first author of the first description from 1961 by Thomas A. Waldmann and colleagues.
F. Homburger and ML Petermann had already described the affected family in 1949, but without recognizing the lymphangiectasia.
distribution
The frequency is unknown; fewer than 500 people have been reported to be affected. The inheritance is autosomal dominant .
root cause
Pathologically, there are dilated lymph vessels of the intestine with leakage of lymph into the intestinal lumen .
Clinical manifestations
Clinical criteria are:
- Onset of illness in the first years of life
- Bilateral leg edema as an indication of protein loss and hypoalbuminemia
- Depending on the severity, anasarca , pericarditis , ascites or pleural effusion can occur
There is an association with B-cell - lymphoma .
Differential diagnosis
The following are to be distinguished:
literature
- D. Tourlakis, K. Hatziveis, E. Spiliopoulos: Pregnancy and Waldmann disease. In: La Clinica Terapeutica . Volume 159, Number 3, 2008 May-Jun, pp. 173-174, PMID 18594747 .
Individual evidence
- ↑ a b c d Lymphangiectasia, primary intestinal. In: Orphanet (Rare Disease Database).
- ↑ Encyclopedia Dermatology Intestinal Lymphangiectasia
- ^ TA Waldmann, JL Steinfeld, TF Dutcher, JD Davidson, RS Gordon: The role of the gastrointestinal system in "idiopathic hypoproteinemia". In: Gastroenterology. Volume 41, September 1961, pp. 197-207, PMID 13782654 .
- ^ F. Homburger, ML Petermann: Studies on hypoproteinemia; familial idiopathic dysproteinemia. In: Blood. Volume 4, Number 10, October 1949, pp. 1085-1108, PMID 18139382 .
- ↑ MP Quemere, G. Descargues, E. Verspyck, L. Marpeau: Maladie de Waldmann et grossesse. In: Journal de gynecologie, obstetrique et biologie de la reproduction. Volume 29, Number 5, September 2000, pp. 517-519, PMID 11011282 .
- ↑ Lymphangiectasia, intestinal. In: Online Mendelian Inheritance in Man . (English)
