Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with a known history of Neurofibromatosis Type 1 (NF1) and reports symptoms suggestive of gastrointestinal involvement, including [abdominal pain/melena/hematochezia/early satiety/nausea]. Patient denies prior history of GI malignancy but notes recent change in bowel habits. Review of systems is positive for [anemia/fatigue/weight loss].
Clinical Examination Findings
Physical examination reveals multiple café-au-lait macules and cutaneous neurofibromas consistent with NF1. Abdominal exam demonstrates [tenderness/palpable mass/distension/normoactive bowel sounds]. Digital rectal exam is [positive/negative] for occult blood. Skin assessment confirms presence of axillary or inguinal freckling.
Treatment Protocol
Plan includes urgent EGD and colonoscopy to evaluate for GI GISTs or neurofibromas. Consider CT abdomen/pelvis with IV contrast to assess tumor burden. If GIST is confirmed, surgical consultation for resection is indicated. Monitor hemoglobin/hematocrit for chronic blood loss. Initiate proton pump inhibitor therapy if indicated.