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Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report

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,...

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Autores principales: Tao, Meng-Yu, Wang, Kai-Yi, Li, Xin, Yu, Chen, Wan, Qin-Si, Shu, Xu, Chen, You-Xiang, Liao, Wang-Di
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793055/
https://www.ncbi.nlm.nih.gov/pubmed/36582665
http://dx.doi.org/10.1177/17562848221142913
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author Tao, Meng-Yu
Wang, Kai-Yi
Li, Xin
Yu, Chen
Wan, Qin-Si
Shu, Xu
Chen, You-Xiang
Liao, Wang-Di
author_facet Tao, Meng-Yu
Wang, Kai-Yi
Li, Xin
Yu, Chen
Wan, Qin-Si
Shu, Xu
Chen, You-Xiang
Liao, Wang-Di
author_sort Tao, Meng-Yu
collection PubMed
description 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.
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spelling pubmed-97930552022-12-28 Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report Tao, Meng-Yu Wang, Kai-Yi Li, Xin Yu, Chen Wan, Qin-Si Shu, Xu Chen, You-Xiang Liao, Wang-Di Therap Adv Gastroenterol Case Report 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. SAGE Publications 2022-12-22 /pmc/articles/PMC9793055/ /pubmed/36582665 http://dx.doi.org/10.1177/17562848221142913 Text en © The Author(s), 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Tao, Meng-Yu
Wang, Kai-Yi
Li, Xin
Yu, Chen
Wan, Qin-Si
Shu, Xu
Chen, You-Xiang
Liao, Wang-Di
Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title_full Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title_fullStr Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title_full_unstemmed Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title_short Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
title_sort hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793055/
https://www.ncbi.nlm.nih.gov/pubmed/36582665
http://dx.doi.org/10.1177/17562848221142913
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