Fabry patient’s colon tumor removed with nonsurgical procedure

Endoscopic rubber band ligation therapy is alternative to surgery, researchers say

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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A 55-year-old man with a Fabry disease-related tumor in the large intestine was treated successfully with a nonsurgical procedure called endoscopic rubber band ligation therapy, a case study reported.

“[C]olonoscopy surveillance may benefit Fabry’s disease patients with gastrointestinal [obstructions],” researchers wrote, adding that rubber band ligation therapy is a viable alternative to surgery in these situations.

The case study, “Endoscopic treatment of a Fabry disease-related, lumen-obstructing colonic tumor,” was published in the UEG Journal.

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Fabry disease still underdiagnosed, especially among women: Study  

Fabry disease is a rare genetic disorder caused by the reduced activity or absence of the alpha-galactosidase A (Gal A) enzyme. This leads to the toxic buildup of fatty molecules, mainly globotriaosylceramide (Gb3 or Gl-3), in various organs, including the gastrointestinal (GI) system.

Common GI complications include diverticula — small, bulging pouches or sacs that can develop in the lining of certain organs — and bacterial overgrowth.

In this report, two physicians at the University Hospital Würzburg, Germany, describe the case of a 55-year-old man who developed a Fabry disease-related rare, obstructing tumor in the colon and who was successfully treated with nonsurgical rubber band ligation.

The patient, undergoing treatment with Galafold (migalastat), had experienced weight loss, abdominal discomfort, distension, and irregular bowel movements for six months. That scenario is indicative of pseudo-obstruction, or dysfunctional movement of the intestines. He had bloody stools, which prompted examination by colonoscopy, a medical test that examines the inner lining of the intestine and rectum using a thin, flexible tube called a colonoscope.

A 40 millimeter obstructive tumor in the colon was found. Pro-kinetic medications, commonly used to enhance gastrointestinal motility and improve the movement of food through the digestive system, is not advised for Fabry patients.

Given the patient’s risk status due to severe heart and neurologic disorders, physicians opted for colonoscopy endoscopic rubber band ligation therapy instead of surgery. This procedure involves placing small rubber bands at the base of abnormal tissue or lesions to constrict its blood supply, causing it to shrink or fall off with time.

Three treatment sessions

The treatment was performed over three sessions at three-month intervals, which culminated in the successful removal of the tumor and the relief of symptoms, as confirmed in a three-month follow-up. The colon was shortened due to scarring.

Post-intervention monitoring was carried out overnight, and upon discharge the patient received recommendations for stool regulation.

Overall, researchers said, this case highlights the effectiveness and benefits of endoscopic treatment as a viable alternative to surgery in managing Fabry disease-related gastrointestinal obstructions, particularly in patients with significant complications in other organs.