Familial hypercholestrolemia: clinical examination holds the key!

Familial hypercholesterolemia is a rare genetic disease, although it is amongst the commonest dyslipidemias. It characterized by raised cholesterol levels and normal triglyceride levels. Childhood presentation of familial hypercholesterolemia can cause early atherosclerotic plaque deposition in arte...

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Detalles Bibliográficos
Autores principales: Dewan, Pooja, Grover, Chander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Case report | Opis przypadku
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228203/
https://www.ncbi.nlm.nih.gov/pubmed/34743504
http://dx.doi.org/10.5114/pedm.2021.107714
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author Dewan, Pooja
Grover, Chander
author_facet Dewan, Pooja
Grover, Chander
author_sort Dewan, Pooja
collection PubMed
description Familial hypercholesterolemia is a rare genetic disease, although it is amongst the commonest dyslipidemias. It characterized by raised cholesterol levels and normal triglyceride levels. Childhood presentation of familial hypercholesterolemia can cause early atherosclerotic plaque deposition in arteries and a markedly increased risk of coronary heart disease (CHD) at a young age. A thorough clinical examination, including identification of signs like cutaneous lesions and careful eye examination, can clinch the diagnosis.
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spelling pubmed-102282032023-06-05 Familial hypercholestrolemia: clinical examination holds the key! Dewan, Pooja Grover, Chander Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku Familial hypercholesterolemia is a rare genetic disease, although it is amongst the commonest dyslipidemias. It characterized by raised cholesterol levels and normal triglyceride levels. Childhood presentation of familial hypercholesterolemia can cause early atherosclerotic plaque deposition in arteries and a markedly increased risk of coronary heart disease (CHD) at a young age. A thorough clinical examination, including identification of signs like cutaneous lesions and careful eye examination, can clinch the diagnosis. Termedia Publishing House 2021-09-30 2021-09 /pmc/articles/PMC10228203/ /pubmed/34743504 http://dx.doi.org/10.5114/pedm.2021.107714 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works.
spellingShingle Case report | Opis przypadku
Dewan, Pooja
Grover, Chander
Familial hypercholestrolemia: clinical examination holds the key!
title Familial hypercholestrolemia: clinical examination holds the key!
title_full Familial hypercholestrolemia: clinical examination holds the key!
title_fullStr Familial hypercholestrolemia: clinical examination holds the key!
title_full_unstemmed Familial hypercholestrolemia: clinical examination holds the key!
title_short Familial hypercholestrolemia: clinical examination holds the key!
title_sort familial hypercholestrolemia: clinical examination holds the key!
topic Case report | Opis przypadku
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228203/
https://www.ncbi.nlm.nih.gov/pubmed/34743504
http://dx.doi.org/10.5114/pedm.2021.107714
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