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Hereditary Hemorrhagic Telangiectasia with Unusual Associations
We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494561/ https://www.ncbi.nlm.nih.gov/pubmed/26180702 http://dx.doi.org/10.7759/cureus.278 |
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author | Jain, Dheeraj Viswanathan, Stalin Ramasamy, Chandramohan |
author_facet | Jain, Dheeraj Viswanathan, Stalin Ramasamy, Chandramohan |
author_sort | Jain, Dheeraj |
collection | PubMed |
description | We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis. Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations. |
format | Online Article Text |
id | pubmed-4494561 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-44945612015-07-15 Hereditary Hemorrhagic Telangiectasia with Unusual Associations Jain, Dheeraj Viswanathan, Stalin Ramasamy, Chandramohan Cureus Gastroenterology We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis. Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations. Cureus 2015-06-16 /pmc/articles/PMC4494561/ /pubmed/26180702 http://dx.doi.org/10.7759/cureus.278 Text en Copyright © 2015, Jain et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Gastroenterology Jain, Dheeraj Viswanathan, Stalin Ramasamy, Chandramohan Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title | Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title_full | Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title_fullStr | Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title_short | Hereditary Hemorrhagic Telangiectasia with Unusual Associations |
title_sort | hereditary hemorrhagic telangiectasia with unusual associations |
topic | Gastroenterology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4494561/ https://www.ncbi.nlm.nih.gov/pubmed/26180702 http://dx.doi.org/10.7759/cureus.278 |
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