A Young Woman With Recurrent Rectal Bleeding

Question: A 25-year-old woman was admitted to our department with 10 years’ episodes of rectal bleeding, which became more and more serious with newly developed abdominal pain in the last month. Physical examination showed signs of anemia, malformation of the left lower limb, varicosities on the skin of left knee, and pelvic obliquity. On digital rectal examination, an extensive swelling of mucosae was palpated. Laboratory testing showed low counts of all 3 types of blood cells. Liver stiffness measured by transient elastography was 9.5 kPa. A percutaneous liver biopsy reported nothing special other than slight dilation of hepatic sinusoids around the central veins. Findings from an upper endoscopy indicated nothing but a chronic nonatrophic gastritis. Findings from a colonoscopy revealed that the colorectal mucosae were nodular, hyperemic and swollen. Varicose veins were observed in the rectum, with red marks and oozing on the surface (Figure A, B). However, the inserted length of the scope was only about 40 cm, considering the high risk of bleeding. Endorectal ultrasound examination showed significant thickening of the rectal wall, especially the mucosa, measuring as much as 7 mm in thickness. A number of anechoic structures were observed in the submucosal layer, which most likely were the proliferated submucosal veins engorged with blood (Figure C). A dynamic contrast-enhanced computed tomography scan of the abdomen also revealed extensive colorectal wall thickening and overt narrowing of the lumen, particularly for the rectum and sigmoid. There were a great number of dilated tortuous vessels surrounding the rectum in a spoke-like pattern, with scattered calcifications indicative of phleboliths (Figure D, E). Computed tomography angiography demonstrated that rather than a single-channel portal vein, numerous vascular structures formed in situ and enhanced during the portal phase that distinguished it from an arteriovenous malformation, suggesting the existence of cavernous transformation of portal vein and its main branches (Figure F). What is the most likely diagnosis? Look on page 1047 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. After reviewing the literature, we found that the patient’s clinical characteristics were similar to diffuse cavernous hemangioma of the large intestine.1Wang H.T. Tu Y. Fu C.G. et al.Diffuse cavernous hemangioma of the rectosigmoid colon.Tech Coloproctol. 2005; 9: 145-148Google Scholar,2Tanaka N. Onda M. Seya T. et al.Diffuse cavernous haemangioma of the rectum.Eur J Surg. 1999; 165: 280-283Google Scholar However, the patient had a concomitant malformation of left lower limb and varicosities on the affected side, which were diagnostic cues for Klippel-Trenaunay syndrome, a complex vascular syndrome diagnosed on the basis of physical findings of vascular anomalies and hypertrophy of a limb. The involvement of gastrointestinal tract of Klippel-Trenaunay syndrome often showed marked wall thickening of rectosigmoid colon, causing chronic bleeding and anemia.3Clinical Practice Guidelines for Klippel-Trenaunay Syndrome (KTS).https://k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdfDate accessed: November 23, 2021Google Scholar What made the case rarer was the coexistence of cavernous transformation of portal vein, which could aggravate gastrointestinal congestion and subsequent bleeding. After a multidisciplinary team discussion, Hartmann’s procedure was tailored, but the patient was unable to undergo the procedure owing socioeconomic factors and was discharged from our hospital.