Teaching Case

A 48-year-old male patient presented with recurrent rectorrhagia, defecatory urgency and rectal tenesmus.

On physical examination rectal varices were noted as well as lower limb asymmetry, with swelling, pigmentation and exuberant varices of the right lower limb, with tests showing competent deep venous system.

Lab tests revealed iron-deficiency anaemia.

Contrast-enhanced Computed tomography examination (CT) showed:

• Marked and diffuse thickening of the rectosigmoid colon walls, with late and heterogeneous contrast enhancement, narrowing lumen and cluster of phleboliths;

• Numerous dilated veins, also with phleboliths, in the perirectal space and mesosigmoid;

• Similarly contrast-enhanced thickening with associated phleboliths of the bladder dome;
• A hepatic nodule with discontinuous, nodular, peripheral enhancement compatible with a haemangioma;
• Numerous subcutaneous varices on the right lumbar and gluteal regions, and right hemiscrotum.

Klippel-Trenaunay syndrome is a rare congenital vascular anomaly of unclear aetiology. It is characterised by the triad of cutaneous vascular nevus/haemangiomas of “portwine” colour, varicose veins/venous malformations, and bony or soft tissue hypertrophy, particularly affecting one extremity, predominantly the lower limbs [1], as presented in other cases in EURORAD [2]. While the limbs are generally involved, it may also affect the gastrointestinal and genitourinary tracts (often concomitant), liver, spleen, among others [1, 3].

Involvement of the gastrointestinal tract concerns 1-20% [1, 3] of the syndromic patients, and consist of visceral haemangiomatosis involving most frequently the rectosigmoid colon, and seldom the small intestine [4]. Its pathophysiology is also unclear, with one proposed cause being the result of excess of venous uptake from shunts into the internal iliac vein consequent to the venous malformations of the affected limb, with other theories suggesting a more generalised mesodermal defect, as to explain the presence of the vascular malformations elsewhere [3].

They present clinically with chronic or severe acute gastrointestinal bleeding, being a significant source of morbidity and even mortality [5].

Radiographs may show phleboliths as manifestations of prior haemorrhage or thrombus, pathognomonic for venous malformations in young patients. CT and magnetic resonance imaging angiography are useful for noninvasively defining the extent of vascular malformations, showing marked and diffuse thickening of the rectosigmoid colon walls, with multiple phleboliths, indicative of cavernous haemangiomas [1, 4]. The most useful diagnostic procedures remain, however, endoscopy and selective visceral angiography, which better define the anatomy and extent of the intestinal involvement prior to surgical resection.

Management of colorectal bleeding in these patients is difficult, and will depend on the extent and the severity of blood loss.  Conservative options, like iron supplements and transfusions may be indicated in case of nonsignificant bleeding.  Endoscopic procedures, using argon or laser, may be used as an alternative option to surgery with the objective of preserving the anorectal function, although with the risk of recurrent bleeding [1]. Surgical treatment, reserved for cases of recurrent life-threatening bleeding episodes with transfusion dependency, consist of resection of the affected part of the gut with or without colostomy, having the risk of a definitive colostomy due to the extent of the involvement [4]. Selective angiographic embolisation has been described in the setting of massive rectal bleeding and as a preoperative preparation before rectosigmoidectomy to reduce the risk of operative bleeding [1].

Congenital vascular syndromes should be considered in cases of massive or recurrent gastrointestinal bleeding.