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Gastrointestinal structure and function in Fabry's disease.

K J Sheth, S L Werlin, M E Freeman

    The American Journal of Gastroenterology
    |September 1, 1981
    PubMed
    Summary
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    Gastrointestinal symptoms are common in Fabry disease, affecting males more than females. However, malabsorption and celiac disease were not found in patients with Fabry disease.

    Area of Science:

    • Biochemistry
    • Genetics
    • Gastroenterology

    Background:

    • Fabry disease is a rare genetic disorder affecting multiple organ systems.
    • Gastrointestinal (GI) symptoms are frequently reported in Fabry disease patients.
    • The underlying GI pathology and potential for malabsorption in Fabry disease require further investigation.

    Purpose of the Study:

    • To evaluate gastrointestinal structure and function in individuals with Fabry disease.
    • To investigate the presence of malabsorption and celiac disease in Fabry disease patients.
    • To characterize the cellular and subcellular pathology in the GI tract of Fabry disease patients.

    Main Methods:

    • Evaluated gastrointestinal structure and function in 13 males and 17 females with Fabry disease.

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  • Assessed GI symptoms, serum biochemistry, and xylose absorption.
  • Performed peroral duodenal, jejunal, and rectal biopsies for light and electron microscopy.

    • Main Results:

    • Gastrointestinal symptoms were noted in 62% of males and 29% of females.
    • Serum protein, albumin, folate, Vitamin B12, calcium, phosphorous, cholesterol, and iron levels were normal.
    • Biopsies revealed "foamy" cell deposits in males but not females; electron microscopy showed "zebra-like" bodies in endothelial, neuronal, and perineurial cells in both sexes.
    • Malabsorption and celiac disease were absent despite frequent GI symptoms.

    Conclusions:

    • Gastrointestinal symptoms in Fabry disease are common but not indicative of malabsorption or celiac disease.
    • Cellular pathology, including "zebra-like" bodies, is present in the GI tract of Fabry disease patients.
    • Further research is needed to understand the pathogenesis of GI symptoms in Fabry disease.