Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report

Meng-Yu Tao; Kai-Yi Wang; Xin Li; Chen Yu; Qin-Si Wan; Xu Shu; You-Xiang Chen; Wang-Di Liao

doi:10.1177/17562848221142913

Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report

Therap Adv Gastroenterol. 2022 Dec 22:15:17562848221142913. doi: 10.1177/17562848221142913. eCollection 2022.

Authors

Meng-Yu Tao¹, Kai-Yi Wang¹, Xin Li¹, Chen Yu², Qin-Si Wan¹, Xu Shu¹, You-Xiang Chen¹, Wang-Di Liao³

Affiliations

¹ Department of Gastroenterology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China.
² Department of Radiology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China.
³ Department of Gastroenterology, The First Affiliated Hospital of Nanchang University, No. 17 Yong Wai Zhen Street, Nanchang, Jiangxi Province 330006, China.

Abstract

Hereditary hemorrhagic telangiectasis (HHT) and juvenile polyposis syndrome (JPS) are both relatively rare hereditary disorders. It has been reported that patients with SMAD4 mutations may suffer from both HHT and JPS, defined as JPS/HHT. To improve the understanding and diagnosis of these diseases, we herein report a case of a 17-year-old male with abdominal pain and hematochezia. Low-tension computed tomography (CT) of the small intestine showed intussusception. Combined with the patient's medical history of nasal bleeding and pulmonary arteriovenous fistula (pAVF) embolism, a final diagnosis of JPS/HHT was reached, according to the Curaçao Diagnostic Criteria. The possibility of JPS/HHT should be considered in patients with epistaxis and intussusception.

Keywords: arteriovenous malformation; case report; hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome.

Publication types

Case Reports