Gastrointestinal Vascular Malformations in Patients with Turner’s Syndrome: A Systematic Review of Case Reports

Abstract

Background/Aim: There is a paucity of data on gastrointestinal (GI) vascular abnormalities in patients with Turner’s syndrome (TS). Therefore, this literature review aimed to characterize the nature of GI vascular malformations in patients with TS, their localization in the GI tract, and their clinical and laboratory manifestations. Methods: A systematic search for articles was conducted using Medline and Embase (until August 2017). A manual search of the references of the included papers was performed to identify any potential additional references. We also conducted a retrospective chart review of all patients with TS and GI bleeding who were hospitalized at our institution. Results: A total of 29 articles published between 1947 and 2015 that described 39 cases were reviewed. Additionally, we included 2 patients who were hospitalized at our institution. The median age of patients with TS was 15 years (range: 0.1–57 years). Iron deficiency anaemia (35/40), haematochezia (15/37), and melaena (14/36) were the most common symptoms. Abnormal GI vessels occurred throughout the entire bowel, with a predilection for the small intestine (72%, 29/40). The most common abnormal vessels (65%, 24/37) were telangiectasias and dilated veins. Conclusion: Telangiectasias and dilated veins of the small intestine were the most commonly seen abnormal GI vessels in patients with TS.

Gastrointestinal haemorrhage in a pre‐pubertal girl: Remember Turner syndrome and intestinal telangiectasia

“…There are many methods to diagnose IT in Turner syndrome. The method with highest sensitivity is via laparoscopy or laparotomy, as these telangiectasias are more commonly found in the subserosal surface of the bowel 3. Due to the variations of involvement and the small bowel being the most commonly involved segment, investigation via gastroscopy or colonoscopy has been found to be of limited sensitivity 3.…”

“…Oestrogen is known to have an association with vascular anomalies although the exact nature of its apparent protective effect has not been fully documented. 3 Are these lesions congenital or do they arise in childhood? The age of presentation with bleeding is usually in childhood or early adulthood and then the incidence decreases.…”

“…The method with highest sensitivity is via laparoscopy or laparotomy, as these telangiectasias are more commonly found in the subserosal surface of the bowel. 3 Due to the variations of involvement and the small bowel being the most commonly involved segment, investigation via gastroscopy or colonoscopy has been found to be of limited sensitivity. 3 Recently the option of performing a capsule endoscopy was reported by Pavlov et al 5 Radiologically, there may be value in performing abdominal angiography, but sensitivity studies are limited.…”

“…3 Due to the variations of involvement and the small bowel being the most commonly involved segment, investigation via gastroscopy or colonoscopy has been found to be of limited sensitivity. 3 Recently the option of performing a capsule endoscopy was reported by Pavlov et al 5 Radiologically, there may be value in performing abdominal angiography, but sensitivity studies are limited. 6 In the case of active bleeding, red cell scan scintigraphy can be considered in an adult, or alternatively angiography via computed tomography may localise the bleeding site well.…”

Comparison of the efficacy of two different treatments for venous malformation with rapid drainage

“…In the application of radiofrequency in the treatment of venous malformations, some scholars consider that for complex venous malformations, spring coil combined with radiofrequency can achieve a better curative effect. Given the complexity of venous malformations, available studies to date do not provide clear indication criteria (15,16). However, some scholars consider that multiple radiofrequency treatments can achieve good results.…”