Fabry Disease – Gastrointestinal Manifestations

Gastrointestinal symptoms are thought to be due to the deposition of glycosphingolipids in mesenteric blood vessels and autonomic ganglia^[1]. Up to two thirds of affected males and about half of symptomatic female carriers may experience gastrointestinal symptoms associated with Fabry disease. ^{[2, 3]} Gastrointestinal symptoms may include:^[4]

Postprandial bloating

Abdominal cramping and pain

Early satiety

Diarrhea

Constipation

Nausea

Vomiting

References

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

2. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750-760.

3. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.

4. Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun. 1998;19:887-891