Homozygous familial hypercholesterolemia

Homozygous familial hypercholesterolemia

We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13....

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Published in:Malaysian Journal of Pathology
Main Author: Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
Format: Article
Language:English
Published: Malaysian Society of Pathologists 2014
Online Access:https://www.scopus.com/inward/record.uri?eid=2-s2.0-84905733381&partnerID=40&md5=69696bd89ddb8c9165aad0d90d60c52b
id 2-s2.0-84905733381
spelling 2-s2.0-84905733381
Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
Homozygous familial hypercholesterolemia
2014
Malaysian Journal of Pathology
36
2

https://www.scopus.com/inward/record.uri?eid=2-s2.0-84905733381&partnerID=40&md5=69696bd89ddb8c9165aad0d90d60c52b
We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hypercholesterolemia (FH) based on the Simon Broome (SB) diagnostic criteria. There was a family history of premature coronary heart disease (CHD) in that three siblings had sudden cardiac death, and of consanguineous marriage in that her parents are cousins. DNA screening of LDLR and APOB genes was done by Polymerase Chain Reaction (PCR), followed by Denaturing High Performance Liquid Chromatography (DHPLC). Homozygous mutation C255S in Exon 5 of her LDLR gene was found. There was no mutation was found in Exon 26 and Exon 29 of the APOB gene. This report is to emphasize the importance of identifying patients with FH and cascade screening through established diagnostic criteria and genetic studies in order to ensure early detection and early treatment intervention to minimize the risk of developing CHD and related complications.
Malaysian Society of Pathologists
1268635
English
Article
author Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
spellingShingle Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
Homozygous familial hypercholesterolemia
author_facet Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
author_sort Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
title Homozygous familial hypercholesterolemia
title_short Homozygous familial hypercholesterolemia
title_full Homozygous familial hypercholesterolemia
title_fullStr Homozygous familial hypercholesterolemia
title_full_unstemmed Homozygous familial hypercholesterolemia
title_sort Homozygous familial hypercholesterolemia
publishDate 2014
container_title Malaysian Journal of Pathology
container_volume 36
container_issue 2
doi_str_mv
url https://www.scopus.com/inward/record.uri?eid=2-s2.0-84905733381&partnerID=40&md5=69696bd89ddb8c9165aad0d90d60c52b
description We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hypercholesterolemia (FH) based on the Simon Broome (SB) diagnostic criteria. There was a family history of premature coronary heart disease (CHD) in that three siblings had sudden cardiac death, and of consanguineous marriage in that her parents are cousins. DNA screening of LDLR and APOB genes was done by Polymerase Chain Reaction (PCR), followed by Denaturing High Performance Liquid Chromatography (DHPLC). Homozygous mutation C255S in Exon 5 of her LDLR gene was found. There was no mutation was found in Exon 26 and Exon 29 of the APOB gene. This report is to emphasize the importance of identifying patients with FH and cascade screening through established diagnostic criteria and genetic studies in order to ensure early detection and early treatment intervention to minimize the risk of developing CHD and related complications.
publisher Malaysian Society of Pathologists
issn 1268635
language English
format Article
accesstype
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