Familial hypercholesterolemia (FH) is one of the commonest autosomal dominant genetic disorders which affects lipoprotein metabolism in the body, causing thereby severe hypercholesterolemia, mainly contributed by high level of low density lipoprotein cholesterol (LDLc). This causes polyvascular premature atherosclerosis with significant mortality, especially in the homozygous form (HoFH), where affected persons die in their teens. There are well developed diagnostic criteria for FH but the index of suspicion of the physician needs to be high to detect heterozygous FH. As the blood LDLc values are very high, even the highest doses of statins cannot bring down the levels to optimum. Life style management should also be rigorously implemented. Ezetimibe imparts some extra 10 to 15% reduction of LDLc on top of maximally tolerated dose of statins. PCSK9I agents are recently approved for FH. They reduce LDLc further by 30-50%. The small interfering RNA, inclisiran, reduces LDLc by almost 60% and has shown clinical benefit in FH patients. Many other newer agents are in the pipe line of development. In extreme cases, plasmapheresis is life saving, but difficult to adopt as a regular long term treatment. Often the absolute target of LDLc level is not achieved even with all available measures, and a more than 50% reduction from the baseline value is all that can be attained. Early diagnosis by screening of first degree relatives of the index case helps to attain long term clinical benefit.
| Published in |
American Journal of Internal Medicine (Volume 8, Issue 6)
This article belongs to the Special Issue Dyslipidemia: Flash Back and Vision Ahead |
| DOI | 10.11648/j.ajim.20200806.17 |
| Page(s) | 279-284 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2020. Published by Science Publishing Group |
Familial Hypercholesterolemia, Premature Polyvascular Atherosclerotic Disease, Statin, Ezetimibe, PCSK9I, Inclisiran
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APA Style
Saumitra Ray, Biswarup Sarkar. (2020). Familial Hypercholesterolemia: Improving Outcomes with Newer Agents. American Journal of Internal Medicine, 8(6), 279-284. https://doi.org/10.11648/j.ajim.20200806.17
ACS Style
Saumitra Ray; Biswarup Sarkar. Familial Hypercholesterolemia: Improving Outcomes with Newer Agents. Am. J. Intern. Med. 2020, 8(6), 279-284. doi: 10.11648/j.ajim.20200806.17
AMA Style
Saumitra Ray, Biswarup Sarkar. Familial Hypercholesterolemia: Improving Outcomes with Newer Agents. Am J Intern Med. 2020;8(6):279-284. doi: 10.11648/j.ajim.20200806.17
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Download@article{10.11648/j.ajim.20200806.17,
author = {Saumitra Ray and Biswarup Sarkar},
title = {Familial Hypercholesterolemia: Improving Outcomes with Newer Agents},
journal = {American Journal of Internal Medicine},
volume = {8},
number = {6},
pages = {279-284},
doi = {10.11648/j.ajim.20200806.17},
url = {https://doi.org/10.11648/j.ajim.20200806.17},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20200806.17},
abstract = {Familial hypercholesterolemia (FH) is one of the commonest autosomal dominant genetic disorders which affects lipoprotein metabolism in the body, causing thereby severe hypercholesterolemia, mainly contributed by high level of low density lipoprotein cholesterol (LDLc). This causes polyvascular premature atherosclerosis with significant mortality, especially in the homozygous form (HoFH), where affected persons die in their teens. There are well developed diagnostic criteria for FH but the index of suspicion of the physician needs to be high to detect heterozygous FH. As the blood LDLc values are very high, even the highest doses of statins cannot bring down the levels to optimum. Life style management should also be rigorously implemented. Ezetimibe imparts some extra 10 to 15% reduction of LDLc on top of maximally tolerated dose of statins. PCSK9I agents are recently approved for FH. They reduce LDLc further by 30-50%. The small interfering RNA, inclisiran, reduces LDLc by almost 60% and has shown clinical benefit in FH patients. Many other newer agents are in the pipe line of development. In extreme cases, plasmapheresis is life saving, but difficult to adopt as a regular long term treatment. Often the absolute target of LDLc level is not achieved even with all available measures, and a more than 50% reduction from the baseline value is all that can be attained. Early diagnosis by screening of first degree relatives of the index case helps to attain long term clinical benefit.},
year = {2020}
}
TY - JOUR T1 - Familial Hypercholesterolemia: Improving Outcomes with Newer Agents AU - Saumitra Ray AU - Biswarup Sarkar Y1 - 2020/11/16 PY - 2020 N1 - https://doi.org/10.11648/j.ajim.20200806.17 DO - 10.11648/j.ajim.20200806.17 T2 - American Journal of Internal Medicine JF - American Journal of Internal Medicine JO - American Journal of Internal Medicine SP - 279 EP - 284 PB - Science Publishing Group SN - 2330-4324 UR - https://doi.org/10.11648/j.ajim.20200806.17 AB - Familial hypercholesterolemia (FH) is one of the commonest autosomal dominant genetic disorders which affects lipoprotein metabolism in the body, causing thereby severe hypercholesterolemia, mainly contributed by high level of low density lipoprotein cholesterol (LDLc). This causes polyvascular premature atherosclerosis with significant mortality, especially in the homozygous form (HoFH), where affected persons die in their teens. There are well developed diagnostic criteria for FH but the index of suspicion of the physician needs to be high to detect heterozygous FH. As the blood LDLc values are very high, even the highest doses of statins cannot bring down the levels to optimum. Life style management should also be rigorously implemented. Ezetimibe imparts some extra 10 to 15% reduction of LDLc on top of maximally tolerated dose of statins. PCSK9I agents are recently approved for FH. They reduce LDLc further by 30-50%. The small interfering RNA, inclisiran, reduces LDLc by almost 60% and has shown clinical benefit in FH patients. Many other newer agents are in the pipe line of development. In extreme cases, plasmapheresis is life saving, but difficult to adopt as a regular long term treatment. Often the absolute target of LDLc level is not achieved even with all available measures, and a more than 50% reduction from the baseline value is all that can be attained. Early diagnosis by screening of first degree relatives of the index case helps to attain long term clinical benefit. VL - 8 IS - 6 ER -
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