Unusual cause of rectal bleeding. Klippel-Trenaunay syndrome (KTS).

A 19-year-old young man presented with multiple episodes of rectal bleeding of 2 years duration. On physical examination, he had severe pallor and an asymmetric, edematous hypertrophy of left lower limb with multiple dilated and tortuous veins present along the posterolateral aspect [Figure 1]. Laboratory evaluation demonstrated significant anemia with hemoglobin of 6.9 g/dL and hematocrit of 20.9%. Diagnostic colonoscopy demonstrated venous ectasia extending from the dentate line to descending colon [Figure 2]. No active bleeding was noted. Esophago-gastroduodenoscopy was unremarkable.

Figure 1

Clinical photograph showing asymmetric, edematous hypertrophy of left lower limb

Figure 2

Colonoscopy showing multiple venous ectasia in rectum

QUESTION

Q1. What is the diagnosis?

ANSWER

The clinical picture is consistent with the diagnosis of Klippel–Trenaunay Syndrome (KTS). Noted French physicians Maurice Klippel and Paul Trenaunay described this syndrome in 1900 which is characterized by a triad of vascular malformations, venous varicosity and bony and/or soft tissue hypertrophy.[1] Visceral vascular malformations are uncommon in KTS but may cause significant morbidity and mortality.[2] Gastrointestinal malformations are more common than those of genitourinary tract. Bleeding is the most common manifestation of intestinal vascular malformations and may prove to be a potentially life-threatening emergency. Platelet sequestration with secondary consumption of clotting factors within the venous sinusoids of the visceral vascular malformations may further enhance bleeding (Kasabach–Merritt phenomenon).[3]