Sclerotherapy of Rectal Hemangiomas in a Child With Klippel‐Trenaunay‐Weber Syndrome

Abstract

Klippel-Trenaunay-Weber syndrome (KTS) was first described in 1900 (1). The classical features include cutaneous hemangiomas or varicosities that are often associated with bony or soft tissue hypertrophy. The same vascular malformations may also develop within the urinary and gastrointestinal (GI) tracts. Bleeding may occur at the site of these cutaneous lesions or systemically with frank hematuria or hematochezia (2). Herein, we report a case of a child with KTS and recurrent rectal bleed from colonic hemangiomas that were treated effectively by sclerotherapy. CASE PRESENTATION A 7-year-old boy with KTS presented to the emergency department of the Johns Hopkins Children's Center with a history of intermittent rectal bleeding associated with abdominal pain and loose stool. His medical history included multiple embolization of cutaneous hemangiomas and a partial rectosigmoid resection at 3 years old for rectal bleeding from colonic hemangiomas, which at the time required transfusion of packed red blood cells. On examination, he was mildly dehydrated with obvious cutaneous lesions consistent with the diagnosis of KTS, including hypertrophy of the left lower extremity. On digital rectal examination, there was no active bleeding; however, few blood clots were seen in the perianal region on inspection. During colonoscopy, multiple hemangiomas were noted in the rectum ranging between 5 and 15 cm in diameter (Fig. 1A). The lesions were then injected directly with 2 to 5 mL per injection of 75% alcohol by using a sclerotherapy needle (Fig. 1 B). The hemangiomas were shown using real-time fluoroscopy to fill with sclerosant (Fig. 2A, B). A total of 18.5 cm3 of alcohol was injected into 4 distinct colonic hemangiomas. The whole procedure was performed without complication except for slight ulceration of the overlying mucosa at the site of sclerotherapy. Although the colonic lumen appeared restricted after sclerotherapy, the child was able to have regular bowel movements. The patient has been seen in follow-up for 3 years after sclerotherapy, and has had no additional episode of GI bleeding or history of obstructive symptoms secondary to a colonic stricture.FIGURE 1: Rectal hemangiomas in a child with Klippel-Trenaunay-Weber syndrome pre- (A) and post- (B) sclerotherapy.FIGURE 2: Sclerotherapy of rectal hemangiomas under fluoroscopic guidance in a child with Klippel-Trenaunay-Weber syndrome.DISCUSSION KTS is a rare nonhereditary venous hemangiomatous disorder of unclear etiology affecting boys and girls with equal prevalence and an incidence of 1 in 27,500 newborns. The hemangiomas are of the port wine variety that can also involve the lung, liver, GI, or urinary tract. Patients with systemic hemangiomas typically present with hemoptysis, hematuria, or hematochezia (1). On plain radiographs, these visceral hemangiomas may show up as multiple calcified phleboliths. Computed tomography scans and magnetic resonance imaging can be used to identify and trace the extent of the lesions (3–6). In our patient, angiography clearly identified the location and extent of the colonic hemangiomas (Fig. 2A, B), thereby allowing us to consider therapeutic colonoscopy with sclerotherapy. On colonoscopy, these hemangiomas are mainly observed in the descending colon and rectum. These hemangiomas appear on colonoscopy as reddish-purple nodules (Fig. 1A, B) (7). Most patients with KTS and colonic hemangioma experience rectal bleeding that is usually self-limiting. In a study by Jacob et al (8), 12% of the patients with KTS presented with rectal bleeding that stopped on its own without intervention. Another study by Servelle (9) suggests that rectal bleeding is even less common, with just 6 patients in a series of 588 patients with KTS. Our case is unique in that our patient presented initially with significant rectal bleeding that required transfusion of packed red blood cells and ultimately a partial rectosigmoid resection at age 3 years. At age 7, with a recurrence in rectal bleeding, sclerotherapy was considered the most conservative approach. It proved to be the most effective treatment option, because he has had no further recurrence of rectal bleeding. Cavernous hemangiomas consist of large vascular spaces that are histologically distinct from telangiectasias and angiodysplasias, and do not lend themselves to conventional endoscopic therapy, including laser (10). In comparison, capillary hemangiomas are much smaller vascular lesions that are usually pedunculated, and when limited to the submucosa they can be removed by snare cautery (11). Moreover, flat capillary hemangiomas have been effectively managed using the yttrium aluminum garnet-laser (10). In our patient, the cavernous hemangiomas were too large and involved the entire wall of the colon. Although surgical resection is considered the best treatment for these vascular lesions, the recurrence of these lesions several years after our patient underwent subtotal colectomy led us to consider colonoscopically mediated sclerotherapy to avoid further colonic resection and the risk of postoperative complications. Commonly used surgical techniques include abdominal-perineal amputation and “sleeve” coloanal anastomosis (12,13). The former has the disadvantage of leaving the patient with a permanent stoma and is associated with an increased risk of either sexual or urinary dysfunction. Coloanal anastomosis requires a wide mucosectomy of the rectum. The main disadvantage with this technique is that it is associated with an increased risk of severe hemorrhage secondary to vascular dilations developing within the submucosa. Complete surgical excision of these lesions with sphincter-saving procedures is therapeutic if intestinal hemorrhage cannot be controlled. The options include proctectomy with coloanal anastomosis, as was initially done in our patient at age 3 (14–16). However, recurrent hemorrhage following surgery may occur from missed or inadequately excised lesions. Furthermore, these lesions may recur, as was seen in our patient. Even though surgery should intuitively be considered the most definitive treatment option, it is commonly associated with disease recurrence. The notion of repeat colonic excision in this child would probably not have been curative and would be fraught with potential surgical complications. Sclerotherapy was shown to be safe and effective and should be considered a potential treatment option in patients with intestinal hemangiomas.