Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Area of Science:

• Biochemistry
• Genetics
• Gastroenterology

Background:

• Fabry disease (FD) is an X-linked metabolic disorder caused by alpha-galactosidase A deficiency.
• This deficiency leads to glycosphingolipid accumulation, particularly globotriaosylceramide, affecting multiple organs.
• Gastrointestinal (GI) symptoms are common in FD but frequently underdiagnosed or neglected.

Observation:

• Gastrointestinal issues in FD arise from intestinal dysmotility, autonomic dysfunction, vasculopathy, and myopathy.
• This report details four FD patients presenting with early-onset GI manifestations.
• These symptoms include abdominal pain, nausea, diarrhea, and diverticular disease.

Findings:

• Enzyme replacement therapy (ERT), available since 2001, has proven effective in managing FD-related GI symptoms.
• ERT has led to a significant reduction in the severity and frequency of gastrointestinal complaints.
• The study highlights the importance of recognizing early GI involvement in FD for timely intervention.

Implications:

• Early identification and treatment of GI symptoms in Fabry disease are crucial for improving patient outcomes.
• Recognizing the link between FD and GI dysfunction can lead to better diagnostic strategies.
• This underscores the need for a multidisciplinary approach in managing Fabry disease, integrating gastroenterology and metabolic specialists.