Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation defined by a triad of vascular and lymphatic malformations, soft tissue and bone hypertrophy, and atypical varicosities. Visceral involvement is uncommon but can be a significant source of morbidity and mortality. A 23-year old female with Klippel-Trenaunay syndrome was evaluated for abdominal pain and anemia. She denied fever, melena, and hematochezia. She had presented three years prior for anemia attributed to menorrhagia. Physical exam revealed a soft, slightly distended abdomen with mild right lower quadrant tenderness. Laboratory evaluation showed hemoglobin of 5.7 g/dL, unremarkable hepatic chemistries, and platelet count of 189,000/mcL with no evidence of coagulopathy. CT scan of the abdomen and pelvis demonstrated eccentric mural thickening of the rectosigmoid colon and perirectal inflammation. Esophagogastroduodenoscopy showed minor antral gastritis. Colonoscopy revealed diffuse venous congestion circumferentially extending from the mid-sigmoid to the rectum, multiple large varicosities, and purplish discoloration of the entire mucosa, with prominent internal hemorrhoids. With no active bleeding, she was treated conservatively with iron replacement and blood transfusion. She was advised tertiary evaluation for possible rectosigmoid resection. Patients with KTS have prominent external abnormalities. Visceral manifestations are lesser known but can lead to life-threatening complications from blood loss and anemia. Gastrointestinal involvement often goes unrecognized in asymptomatic patients. Bleeding is uncommon, presenting in 6 of 588 cases in the largest KTS study to date. Distal colon and rectum are involved in 1-12.5% of cases. Endoscopic therapies have a limited role due to the extensive nature of the disease. A conservative approach with iron replacement may be taken for non-significant bleeding. In cases of life-threatening bleeding, surgical resection has been effective. Visceral angiography aids in defining extent of disease prior to surgery. Angiographic embolization and clipping has been utilized emergently as a bridge to surgery, and to reduce risk of intraoperative bleeding. This case emphasizes that KTS may have vascular malformations beyond the classic triad. Gastrointestinal involvement may present without symptoms, and resection of the affected segment has been shown to control bleeding.Figure 1Figure 2Figure 3