KTWS (Klippel‐Trenaunay‐Weber syndrome): A systematic presentation of a rare disease

Abstract

BackgroundKlippel‐Trenaunay‐Weber syndrome (KTWS) is a rare disease with a wide range of manifestations. KTWS is characterized by a clinical triad of varicosities of the extremities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is made clinically supplemented with magnetic resonance imaging and computed tomography.AimHereby we aim to highlight the significance of the possible life‐threatening first‐time presentations associated with the GI system in previously undiagnosed KTWS patients.PatientWe report the case of a 47‐year‐old male with KTWS, who presented with various symptoms such as rectorrhagia since childhood, digestive problems and abnormal lateral vascular malformations of the left buttock which extended all the way to the leg, vascular malformations of the left fourth and fifth toes as well as soft tissue swelling of the left foot. There was no evidence of other clinical presentations. The patient was hospitalized with severe rectorrhagia and a hemoglobin level of 3/9. Physical examination revealed a blood pressure of 85/55 and pulse rate of 115. Ruptured aneurysm of the superior mesenteric artery was found on angiography and subsequently treated with embolization. Dermatologic evaluation showed pitting edema of the left leg and foot and multiple vascular lesions. Thus a diagnosis of KTWS was established. Pulsed dye laser therapy and compression bandage was performed for the patient. The patient's follow‐up was done 3 months after discharge for which the patient was again consulted by a dermatologist and gastroenterologist. Lymphedema of the left leg had improved to a great extend so treatment with compression bandage was continued. Colonoscopy was repeated for the patient to evaluate and control possible active sources of bleeding, due to potential life‐threating complications.ResultsAccording to previous findings, there have been few case reports of KTWS presenting with gastrointestinal manifestations, fewer of which have covered acute life‐threatening bleedings associated with this system.

KRIT1 in vascular biology and beyond

“…PWS consists of multiple, fast-flow, microscopic arteriovenous connections with variable capillary involvement in an enlarged limb, usually the lower extremity [ 68 , 69 ]. KTS is a slow flow combined vascular disorder involving abnormal capillaries, lymphatics, and veins [ 70 , 71 ]. Both infantile hemangioma [ 72 ] and SWS [ 68 ] vascular lesions consist of disorganized capillary-like vessels composed of immature endothelial cells and abundant α-smooth muscle actin positive perivascular cells.…”