Pathophysiologic and Ultrastructural Basis for Intestinal Symptoms in Fabry's Disease

O'Brien, B. D.; Shnitka, T. K.; McDougall, R M; Walker, K.; Costopoulos, L. B.; Lentle, Brian C.; Anholt, L.; Freeman, Hugh James; Thomson, Abr

doi:10.1016/s0016-5085(82)80262-x

Cited by 64 publications

(42 citation statements)

References 24 publications

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“…Other mechanisms of gatrointestinal disturbances are thought to be a result of complications of dysmotility and peristalsis leading to bacterial overgrowth thus predisposing to chronic diarrhea, malabsorption, and diverticula formation. Bile salt breath tests for expiration (20) or aspiration of jejunal content (22) confirm this finding. Also, the use of tetracycline has been used as a potential treatment of bacterial overgrowth leading to resolution of diarrhea after 2 days of treatment in one report (22).…”

Section: Discussionmentioning

confidence: 57%

“…Histopathological descriptions show vacuolization of ganglion cells and surrounding axons, with intracellular glycosphingolipid deposits typical of Fabry disease (Fig. 3) (20)(21)(22)(23)(24)(25)(26). An increase in size of the ganglion cells higher than twice their normal size has also been reported (22).…”

Section: Discussionmentioning

confidence: 91%

“…3) (20)(21)(22)(23)(24)(25)(26). An increase in size of the ganglion cells higher than twice their normal size has also been reported (22). One of the most important functions of the myenteric plexus is the inhibition of local myogenic activity modulating and coordinating the contraction of intestinal smooth muscle cells.…”

Section: Discussionmentioning

confidence: 97%

“…3). (21)(22)(23)(24)29). Jardine et al, describe a 50-year-old male patient with intestinal necrosis secondary to superior mesenteric artery infarction (20).…”

Section: Discussionmentioning

confidence: 99%

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Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Politei

Thurberg²,

Wallace

et al. 2015

Clinical Genetics

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Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (FD), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (FD) who manifested early gastrointestinal involvement.

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Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 97%

“…3). (21)(22)(23)(24)29). Jardine et al, describe a 50-year-old male patient with intestinal necrosis secondary to superior mesenteric artery infarction (20).…”

Section: Discussionmentioning

confidence: 99%

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Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Politei

Thurberg²,

Wallace

et al. 2015

Clinical Genetics

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“…Although only limited architectural changes may be evident, some very distinctive histopathologic changes may permit a specific diagnosis. These include Crohn's disease (84,85), intestinal lymphoma, eosinophilic gastroenteritis, lymphangiectasia (86), macroglobulinemia (87) and amyloidosis (88), abetalipoproteinemia (89), some lipid storage disorders, including Fabry's disease (90), radiation injury, and drug-induced small intestinal disease, such as triparanol, neomycin, busulfan, methotrexate, and some nonsteroidal antiinflammatory drugs, i.e., sulindac (91). Recently, similar changes in the small intestine have been recorded with the use of azathioprine (92).…”

Section: Other Causes Of Severe (Flat) or Variably Severe Lesionsmentioning

confidence: 99%

REVIEW: Adult Celiac Disease and the Severe “Flat” Small Bowel Biopsy Lesion

Freeman

2004

Dig Dis Sci

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Classification of architectural changes in the small intestinal biopsy may be clinically useful to define the cause of diarrhea or suspected malabsorption, especially in adults. Pathologic changes may include severe (flat) or variably severe (mild or moderate) abnormalities. For some disorders, small bowel biopsy findings may be very distinctive and lead to a specific diagnosis. For others, like adult celiac disease, biopsy changes are less specific. Indeed, it is becoming increasingly appreciated that several conditions can produce similar histopathologic changes. Serological assays, including endomysial antibodies and tissue transglutaminase antibodies, may be very useful tools for screening and case finding in clinical practice. However, demonstration of characteristic changes in the small intestinal biopsy is critical, along with a gluten-free diet response.

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