Gastrointestinal (GI) symptoms are a common symptom among individuals with Fabry disease that can have a very disruptive impact on living a normal life-style. Often beginning in childhood, individuals suffer from chronic to occasional diarrhea, gas, bloating, abdominal cramps, nausea and vomiting. The cause of the GI symptoms is thought to be both neurological damage 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 have been used to manage GI symptoms. Appropriate medications can be determined by individuals in consultation with their 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.