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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,...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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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. |
format | Online Article Text |
id | pubmed-9793055 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
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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