Fabry disease is a rare genetic disease that is associated with problems breaking down a specific type of fat called globotriaosylceramide (Gb3 or GL-3). When GL-3 is not broken down into building blocks that cells can use, it builds up inside cells and causes damage. This leads to symptoms such as chronic pain, increased risk of heart disease, kidney damage, and gastrointestinal problems.
Gastrointestinal symptoms of Fabry disease
Gastrointestinal symptoms are very common among Fabry disease patients and are among the first signs of the disease. They occur in children and typically become more severe with age.
Abdominal pain and diarrhea represent the most common gastrointestinal symptoms in Fabry disease. A subset of patients also experiences constipation. In some patients, diarrhea and constipation alternate with periods of normal bowel movements. Upper gastrointestinal symptoms are less common, but can cause significant distress. They include nausea, vomiting, and early satiety.
Many patients can tolerate only small meals; regular-sized meals cause a feeling of being uncomfortably full and displaying signs of gastrointestinal distress.
Some patients also have an intolerance toward dairy products, fatty foods, and spices.
Dietary interventions to relieve gastric discomfort
High-fat foods increase satiety (the feeling of being full), slow gastric motility, and delay gastric emptying. For patients struggling to eat a full meal, low-fat meals may help them to eat more.
A change in meal patterns toward smaller, more frequent meals also may help to relieve gastrointestinal distress.
The timing of meals can make a difference, too. Late-night eating can be problematic even in healthy people, but especially so for people with gastrointestinal issues.
Patients should pay attention to which foods they do not tolerate and try to eliminate them from their diet.
Probiotics may improve digestion, which relieves gastrointestinal symptoms.
A healthy, balanced diet is recommended for Fabry disease patients because it also may reduce the risk of heart disease and improve overall health.
Last updated: Oct. 10, 2019
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