Managing the Gastrointestinal Symptoms of Fabry Disease

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by Vaidyanathan |

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Prenatal Genetic Diagnosis

Fabry disease is a rare X-linked genetic disease characterized by the buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells, resulting in a variety of symptoms that can be life-threatening.

Fabry disease patients often experience gastrointestinal (GI) symptoms such as cramps in the abdomen, diarrhea, reduced appetite, frequent bowel movements, and nausea. Here are a few tips on effectively managing some of the common GI problems associated with the disease.

Abdominal pain

Abdominal pain in Fabry disease is often neuropathic, meaning it is caused by nerve damage. Therefore, your doctor may recommend pain medications that can help provide relief from neuropathic pain such as carbamazepine and gabapentin.


Diarrhea is the occurrence of frequent and watery bowel movements. Diarrhea can occur for various reasons such as bacterial infections, rapid transit inside the bowels, malabsorption of food, and pancreatic issues. If diarrhea is confirmed, it is important to start anti-diarrhea medication depending on the underlying cause as soon as possible.

Avoiding stale food and washing hands thoroughly before and after meals is recommended to avoid the transmission of foodborne microorganisms that can cause diarrhea.


Gastroparesis, or the slow movement of food in the stomach, can result in a feeling of nausea, vomiting, and early satiety (feeling full before finishing an average meal).

Management approaches for gastroparesis can vary from implementing a simple dietary change to removing poorly digested food, masses of which are known as bezoars, from the stomach with endoscopy.

Medications such as metoclopramide, domperidone, erythromycin, and cisapride can stimulate stomach contractions and help empty the stomach.

A dietitian can recommend foods that are easily digestible and nutritious. In general, it is advisable to avoid spicy and fatty foods, alcohol, and caffeine as these can further increase gastric inflammation and cause discomfort.

Other information

Enzyme replacement therapy (ERT) is usually the first line of treatment for Fabry disease. Regularly attending ERT sessions can reduce Gb3 levels and, consequently, the severity of GI symptoms.


Last updated: Nov. 3, 2019


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.