Background Von Recklinghausen's Syndrome (VRS) affects 1in 3000 persons with up to 25% of these having gastrointestinal (GI) manifestations. Upper gastrointestinal bleeding is a common reason for hospitalization and recurrent bleeding has been reported in up to 16-24% of cases. Despite GI manifestations of this disease in 1 in 12000 persons in the United States, the incidence of gastrointestinal bleeding (GIB) in VRS is relatively rare. We present a case of VRS and recurrent GI bleeding.
Case A 40 year old woman with VRS, on coumadin therapy for an artificial mitral valve, presented with her third gastrointestinal bleed in a span of eight months. On her initial two presentations, endoscopy revealed a benign appearing ulcer in the 2nd portion of the duodenum that was treated successfully with epinephrine and electrocautery. H pylori serology was negative on the first admission and all NSAIDS were stopped. On her third presentation to the outside facility, an ulcer was identified at the same site, but now with a visible vessel and pulsatile oozing. The ulcer was treated endoscopically and the patient was transferred to our tertiary care center. On arrival she was unstable and had evidence of continued bleeding, prompting surgical intervention. At time of surgery, a 1.7 cm soft tissue mass located on the posterior aspect of the second portion of the duodenum was resected. This was consistent in location with the ulcer seen on prior endoscopy. Histology of the mass revealed a gastrointestinal stromal tumor (GIST) with positive C-kit(CD117) and S-100 immunohistochemical staining and uncertain malignant potential by histologic criteria. No further bleeding was noted and patient was discharged to home and the care of her rural physician.
Discussion GIST's are one of the possible GI manifestations of VRS, though the true incidence is unknown. GIST's can present with abdominal pain and GIB, and in VRS patients they are often multiple, which presents unique diagnostic and therapeutic challenges. A further unique aspect of GIST in VRS patients is that they lack the common c-kit mutations, potentially limiting the options for newer medical treatments such as Gleevac. In patients with recurrent GIB and VRS, GIST should be an initial consideration.