Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestat...

Full description

Saved in:
Bibliographic Details
Published in:Journal of Marine Medical Society 2023-01, Vol.25 (1), p.88-92
Main Authors: Bajaj, Nitin, Singh, Balbir, Ramamoorthy, Ananthkrishnan, Ghosh, Arijit Kumar
Format: Article
Language:English
Subjects:
atherosclerotic cardiovascular diseases
homozygous familial hypercholesterolemia
lipid-lowering therapies
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites cdi_FETCH-LOGICAL-c387m-865b8f65c55e737072d3808a63926c888a007a40a6486994e5110a7113cfac233
container_end_page 92
container_issue 1
container_start_page 88
container_title Journal of Marine Medical Society
container_volume 25
creator Bajaj, Nitin
Singh, Balbir
Ramamoorthy, Ananthkrishnan
Ghosh, Arijit Kumar
description Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestations usually develop in 1 st or 2 nd decade of life and severity depends on the duration of exposure to elevated LDL cholesterol levels. The mainstay in management is early recognition and treatment with various lipid-lowering agents including lipid-apheresis in severe cases not responding to drug therapy. We report three cases of HoFH presenting to our institute in their 2 nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.
doi_str_mv 10.4103/jmms.jmms_30_22
format article
fullrecord <record><control><sourceid>doaj_cross</sourceid><recordid>TN_cdi_crossref_primary_10_4103_jmms_jmms_30_22</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><doaj_id>oai_doaj_org_article_a21f53c57c2a43cbb77a3ab822db21fb</doaj_id><sourcerecordid>oai_doaj_org_article_a21f53c57c2a43cbb77a3ab822db21fb</sourcerecordid><originalsourceid>FETCH-LOGICAL-c387m-865b8f65c55e737072d3808a63926c888a007a40a6486994e5110a7113cfac233</originalsourceid><addsrcrecordid>eNpFkE1PAjEURRujiQRZu50_MNDPaWdpiAgJxoWybl47HSyZUtIOJvjrHcDo5t7kvpezOAg9EjzlBLPZLoQ8PYdmWFN6g0ZUqLoklIlbNMK1FCWrsLhHk5y9wZxLzmuhRmjzfnC2T8dQxLaYQ2p8_IJsjx2k4hX2vnW5h97HfS78vljGEL9P23jMxQKC7zx0xfJ0cMl-xm74dGmo4OEB3bXQZTf57THaLJ4_5sty_faymj-tS8uUDKWqhFFtJawQTjKJJW2YwgoqVtPKKqUAYwkcQ8VVVdfcCUIwSEKYbcFSxsZodeU2EXb6kHyAdNIRvL4MMW01pN7bzmmgpBXMCmkpcGaNkRIYGEVpY4aTGVizK8ummHNy7R-PYH2WrC9-_yWzH6x8c0w</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia</title><source>Medknow Open Access Medical Journals</source><creator>Bajaj, Nitin ; Singh, Balbir ; Ramamoorthy, Ananthkrishnan ; Ghosh, Arijit Kumar</creator><creatorcontrib>Bajaj, Nitin ; Singh, Balbir ; Ramamoorthy, Ananthkrishnan ; Ghosh, Arijit Kumar</creatorcontrib><description>Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestations usually develop in 1 st or 2 nd decade of life and severity depends on the duration of exposure to elevated LDL cholesterol levels. The mainstay in management is early recognition and treatment with various lipid-lowering agents including lipid-apheresis in severe cases not responding to drug therapy. We report three cases of HoFH presenting to our institute in their 2 nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.</description><identifier>ISSN: 0975-3605</identifier><identifier>EISSN: 2589-1235</identifier><identifier>DOI: 10.4103/jmms.jmms_30_22</identifier><language>eng</language><publisher>Wolters Kluwer Medknow Publications</publisher><subject>atherosclerotic cardiovascular diseases ; homozygous familial hypercholesterolemia ; lipid-lowering therapies</subject><ispartof>Journal of Marine Medical Society, 2023-01, Vol.25 (1), p.88-92</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c387m-865b8f65c55e737072d3808a63926c888a007a40a6486994e5110a7113cfac233</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids></links><search><creatorcontrib>Bajaj, Nitin</creatorcontrib><creatorcontrib>Singh, Balbir</creatorcontrib><creatorcontrib>Ramamoorthy, Ananthkrishnan</creatorcontrib><creatorcontrib>Ghosh, Arijit Kumar</creatorcontrib><title>Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia</title><title>Journal of Marine Medical Society</title><description>Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestations usually develop in 1 st or 2 nd decade of life and severity depends on the duration of exposure to elevated LDL cholesterol levels. The mainstay in management is early recognition and treatment with various lipid-lowering agents including lipid-apheresis in severe cases not responding to drug therapy. We report three cases of HoFH presenting to our institute in their 2 nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.</description><subject>atherosclerotic cardiovascular diseases</subject><subject>homozygous familial hypercholesterolemia</subject><subject>lipid-lowering therapies</subject><issn>0975-3605</issn><issn>2589-1235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNpFkE1PAjEURRujiQRZu50_MNDPaWdpiAgJxoWybl47HSyZUtIOJvjrHcDo5t7kvpezOAg9EjzlBLPZLoQ8PYdmWFN6g0ZUqLoklIlbNMK1FCWrsLhHk5y9wZxLzmuhRmjzfnC2T8dQxLaYQ2p8_IJsjx2k4hX2vnW5h97HfS78vljGEL9P23jMxQKC7zx0xfJ0cMl-xm74dGmo4OEB3bXQZTf57THaLJ4_5sty_faymj-tS8uUDKWqhFFtJawQTjKJJW2YwgoqVtPKKqUAYwkcQ8VVVdfcCUIwSEKYbcFSxsZodeU2EXb6kHyAdNIRvL4MMW01pN7bzmmgpBXMCmkpcGaNkRIYGEVpY4aTGVizK8ummHNy7R-PYH2WrC9-_yWzH6x8c0w</recordid><startdate>202301</startdate><enddate>202301</enddate><creator>Bajaj, Nitin</creator><creator>Singh, Balbir</creator><creator>Ramamoorthy, Ananthkrishnan</creator><creator>Ghosh, Arijit Kumar</creator><general>Wolters Kluwer Medknow Publications</general><scope>AAYXX</scope><scope>CITATION</scope><scope>DOA</scope></search><sort><creationdate>202301</creationdate><title>Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia</title><author>Bajaj, Nitin ; Singh, Balbir ; Ramamoorthy, Ananthkrishnan ; Ghosh, Arijit Kumar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387m-865b8f65c55e737072d3808a63926c888a007a40a6486994e5110a7113cfac233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>atherosclerotic cardiovascular diseases</topic><topic>homozygous familial hypercholesterolemia</topic><topic>lipid-lowering therapies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bajaj, Nitin</creatorcontrib><creatorcontrib>Singh, Balbir</creatorcontrib><creatorcontrib>Ramamoorthy, Ananthkrishnan</creatorcontrib><creatorcontrib>Ghosh, Arijit Kumar</creatorcontrib><collection>CrossRef</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Journal of Marine Medical Society</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bajaj, Nitin</au><au>Singh, Balbir</au><au>Ramamoorthy, Ananthkrishnan</au><au>Ghosh, Arijit Kumar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia</atitle><jtitle>Journal of Marine Medical Society</jtitle><date>2023-01</date><risdate>2023</risdate><volume>25</volume><issue>1</issue><spage>88</spage><epage>92</epage><pages>88-92</pages><issn>0975-3605</issn><eissn>2589-1235</eissn><abstract>Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestations usually develop in 1 st or 2 nd decade of life and severity depends on the duration of exposure to elevated LDL cholesterol levels. The mainstay in management is early recognition and treatment with various lipid-lowering agents including lipid-apheresis in severe cases not responding to drug therapy. We report three cases of HoFH presenting to our institute in their 2 nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.</abstract><pub>Wolters Kluwer Medknow Publications</pub><doi>10.4103/jmms.jmms_30_22</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 0975-3605
ispartof Journal of Marine Medical Society, 2023-01, Vol.25 (1), p.88-92
issn 0975-3605
2589-1235
language eng
recordid cdi_crossref_primary_10_4103_jmms_jmms_30_22
source Medknow Open Access Medical Journals
subjects atherosclerotic cardiovascular diseases
homozygous familial hypercholesterolemia
lipid-lowering therapies
title Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-14T13%3A18%3A33IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-doaj_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Spectrum%20of%20Cardiovascular%20Manifestations%20in%20Homozygous%20Familial%20Hypercholesterolemia&rft.jtitle=Journal%20of%20Marine%20Medical%20Society&rft.au=Bajaj,%20Nitin&rft.date=2023-01&rft.volume=25&rft.issue=1&rft.spage=88&rft.epage=92&rft.pages=88-92&rft.issn=0975-3605&rft.eissn=2589-1235&rft_id=info:doi/10.4103/jmms.jmms_30_22&rft_dat=%3Cdoaj_cross%3Eoai_doaj_org_article_a21f53c57c2a43cbb77a3ab822db21fb%3C/doaj_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c387m-865b8f65c55e737072d3808a63926c888a007a40a6486994e5110a7113cfac233%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true