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[Familial Waldmann's disease].

P Le Bougeant1, X Delbrel, M Grenouillet

  • 1Fédération de Médecine Interne, Maladies Infectieuses et Pathologies Tropicales, Hôpital Saint-André, 1, rue Jean Burguet, 33075 Bordeaux Cedex.

Annales De Medecine Interne
|December 6, 2000
PubMed
Summary

A mother and daughter were diagnosed with Waldmann's disease, a rare form of protein-losing enteropathy. Dietary therapy with medium-chain triglycerides proved effective for their condition.

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Area of Science:

  • Gastroenterology
  • Pediatrics
  • Genetics

Background:

  • Protein-losing enteropathy (PLE) is a condition characterized by excessive protein loss through the gastrointestinal tract.
  • Primary intestinal lymphangiectasis, also known as Waldmann's disease, is a rare cause of PLE, often presenting in childhood.
  • Familial occurrence of Waldmann's disease is infrequently reported, making such cases valuable for understanding genetic predispositions.

Observation:

  • This report details a rare familial case of primary intestinal lymphangiectasis in a mother and her daughter.
  • Both patients presented with clinical signs of edema, hypoproteinemia (low blood protein levels), and lymphopenia (low lymphocyte counts).

Findings:

  • Diagnostic investigations including radiological, endoscopic, and histological examinations confirmed primary intestinal lymphangiectasis.

Related Experiment Videos

  • The patients responded positively to a therapeutic regimen involving medium-chain triglycerides (MCTs).

    • Implications:

    • This case highlights the importance of considering genetic factors in the etiology of primary intestinal lymphangiectasis.
    • Dietary management with MCTs is a viable and effective treatment strategy for Waldmann's disease.
    • Further research into the genetic underpinnings of familial PLE is warranted to improve diagnostic and therapeutic approaches.