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Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250–500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LD...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891005/ https://www.ncbi.nlm.nih.gov/pubmed/34875256 http://dx.doi.org/10.1016/j.ihj.2021.11.185 |
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author | Reddy, Lakshmi Lavanya Shah, Swarup A.V. Ashavaid, Tester F. |
author_facet | Reddy, Lakshmi Lavanya Shah, Swarup A.V. Ashavaid, Tester F. |
author_sort | Reddy, Lakshmi Lavanya |
collection | PubMed |
description | Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250–500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LDLR mutations, 4% are ApoB, 2% are PCSK9 mutations and the mutational spectrum for 37% is unknown. This calls for widespread genetic screening which could help identify definite FH patients. European Atherosclerosis Society-Familial Hypercholesterolemia Studies Collaboration (EAS- FHSC) has taken an initiative to develop a worldwide registry of FH. India is also a part of the collaboration and 3 groups from Mumbai, Delhi and Chennai are actively contributing to this registry. We believe this review might help to understand the Indian scenario of FH and investigators across India can contribute in managing FH in India and further help in the detection, diagnosis and treatment. |
format | Online Article Text |
id | pubmed-8891005 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-88910052022-03-04 Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? Reddy, Lakshmi Lavanya Shah, Swarup A.V. Ashavaid, Tester F. Indian Heart J Review Article Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250–500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LDLR mutations, 4% are ApoB, 2% are PCSK9 mutations and the mutational spectrum for 37% is unknown. This calls for widespread genetic screening which could help identify definite FH patients. European Atherosclerosis Society-Familial Hypercholesterolemia Studies Collaboration (EAS- FHSC) has taken an initiative to develop a worldwide registry of FH. India is also a part of the collaboration and 3 groups from Mumbai, Delhi and Chennai are actively contributing to this registry. We believe this review might help to understand the Indian scenario of FH and investigators across India can contribute in managing FH in India and further help in the detection, diagnosis and treatment. Elsevier 2022 2021-12-04 /pmc/articles/PMC8891005/ /pubmed/34875256 http://dx.doi.org/10.1016/j.ihj.2021.11.185 Text en © 2021 Cardiological Society of India. Published by Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Review Article Reddy, Lakshmi Lavanya Shah, Swarup A.V. Ashavaid, Tester F. Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title | Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title_full | Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title_fullStr | Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title_full_unstemmed | Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title_short | Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry? |
title_sort | shortcomings on genetic testing of familial hypercholesterolemia (fh) in india: can we collaborate to establish indian fh registry? |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891005/ https://www.ncbi.nlm.nih.gov/pubmed/34875256 http://dx.doi.org/10.1016/j.ihj.2021.11.185 |
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