Gastrointestinal (GI) symptoms are a common symptom among individuals with Fabry disease and they can have a very disruptive impact on living a normal lifestyle. Often beginning in childhood, individuals suffer from occasional to chronic diarrhea, gas, bloating, abdominal cramps, nausea, and vomiting. The cause of the GI symptoms is thought to be both neurological damages affecting the signals that control intestinal movement during digestion (motility) and cell impairment from the lipid accumulation.
Prior to enzyme replacement therapy which was approved in 2003, several medications had been used to manage GI symptoms. Appropriate medications can be determined in consultation with the patient's respective physicians. Enzyme replacement therapy has shown to significantly improve GI symptoms in some, but not all, individuals and often seems to improve steadily with continued ERT.
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