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Fabry Disease Patients Have Gastrointestinal Symptoms

Symptoms may resolve after enzyme replacement therapy

FRIDAY, Dec. 28 (HealthDay News) -- About half of patients with the genetic disorder Fabry disease have gastrointestinal symptoms similar to diarrhea-predominant irritable bowel syndrome, which are somewhat resolved after enzyme replacement therapy, according to a report in the December issue of Clinical Gastroenterology and Hepatology.

Bjoern Hoffmann, M.D., from Heinrich-Heine-University in Dusseldorf, Germany, and colleagues surveyed 342 patients with Fabry disease regarding their gastrointestinal symptoms and health-related quality of life before and during enzyme replacement therapy with agalsidase alfa.

The researchers found that 52 percent of patients reported gastrointestinal symptoms, with diarrhea and abdominal pain being the most common. The frequency was higher in female patients, and children also had a high prevalence of these symptoms. Quality-of-life scores were lower in patients with diarrhea or abdominal pain. After 12 months of treatment, enzyme replacement therapy significantly reduced the prevalence of abdominal pain.

"The gastrointestinal symptomatology of Fabry disease is very similar to diarrhea-predominant irritable bowel syndrome; however, pathophysiologic similarities remain to be elucidated," Hoffmann and colleagues conclude. "Enzyme replacement therapy reduced the prevalence of gastrointestinal symptoms in Fabry disease, particularly in children and male patients."

The study authors received grants and honoraria from Shire HGT.

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