1544 Klippel-Trenaunay-Weber: Rare Congenital Syndrome Causing Persistent Rectal Bleeding

Abstract

INTRODUCTION: Klippel-Trenaunay Weber syndrome (KTS) is a rare congenital disorder characterized by a triad of cutaneous capillary malformation (port-wine stain), venous malformations and limb hypertrophy. Diffuse vascular malformations of the gut in KTS can lead to gastrointestinal (GI) bleeding ranging from minor to life threatening hemorrhage necessitating surgical intervention. We describe a case of persistent rectal bleeding and iron dependent anemia in a patient with KTS. CASE DESCRIPTION/METHODS: A 32-year-old female with previous diagnosis of KTS was seen for recurrent hematochezia and iron deficiency anemia. A recent colonoscopy demonstrated non-bleeding arteriovenous malformations (Figure 1), presumed to be the source for the recurrent rectal bleeding episodes. On exam, she appeared pale, had a right hip deep purple telangiectasia, right posterior thigh palpable mass without visible varicosities and no limb hypertrophy. Her laboratory tests revealed: Hb: 9 g/dl, mean corpuscular volume: 75.0 fl, ferritin: 3 ng/ml and serum iron: 22 mcg/dl. CT abdomen/pelvis showed diffuse thickening of the rectum and sigmoid colon with scattered mural calcifications. A repeat colonoscopy demonstrated non-bleeding large circumferential vascular malformation extending from the dentate line to about 20 cm in the rectum (Figure 2) and multiple soft, pale lymphatic blebs in the colon and rectum (Figure 3). Her iron deficiency anemia from chronic blood loss was treated with oral and IV iron therapy. Despite conservative therapy, patient continues to bleed intermittently but has decided against surgical intervention at this time. DISCUSSION: GI hemorrhage occurring in association with KTS is an uncommon cause of rectal bleeding but is the most common symptom and potentially life-threatening emergency of KTS involving the gut. Investigation should begin with visualization of the entire GI tract for localization and extension of the disease. Angiography remains the gold standard and carries the advantage of allowing therapeutic interventions to control bleeding. The management of GI vascular malformations in KTS depends on the frequency and severity of blood loss requiring transfusions. Conservative management and iron supplements may be sufficient in the patient who presents with occasional non-debilitating bleeding. Transfusion dependency and life-threatening bleeding episodes necessitate definitive surgical therapy which involves resection of the diseased bowel.