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Case Reports
. 2024 Jan 29;8(2):ytae039.
doi: 10.1093/ehjcr/ytae039. eCollection 2024 Feb.

A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care

Mohamad Abu Zar Abdul-Halim  1 , Hasidah Abdul-Hamid  1   2 , Noorhida Baharudin  1   3 , Mohamed-Syarif Mohamed-Yassin  1 , Sazzli Shahlan Kasim  4   5 , Hapizah Nawawi  3   6 , Nadeem Qureshi  2 , Anis Safura Ramli  1   3
Affiliations
Case Reports

A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care

Mohamad Abu Zar Abdul-Halim et al. Eur Heart J Case Rep. .

Abstract

Background: Familial hypercholesterolaemia (FH) is an autosomal dominant genetic condition predominantly caused by the low-density lipoprotein receptor (LDLR) gene mutation.

Case summary: This is the case of a 54-year-old Malay woman with genetically confirmed FH complicated by premature coronary artery disease (PCAD). She was clinically diagnosed in primary care at 52 years old, fulfilling the Simon Broome Criteria (possible FH), Dutch Lipid Clinic Criteria (score of 8: probable FH), and Familial Hypercholesterolaemia Case Ascertainment Tool (relative risk score of 9.51). Subsequently, she was confirmed to have a heterozygous LDLR c.190+4A>T intron 2 pathogenic variant at the age of 53 years. She was known to have hypercholesterolaemia and was treated with statin since the age of 25. However, the lipid-lowering agent was not intensified to achieve the recommended treatment target. The delayed FH diagnosis has caused this patient to have PCAD and percutaneous coronary intervention (PCI) at the age of 29 years and a second PCI at the age of 49 years. She also has a very strong family history of hypercholesterolaemia and PCAD, where seven out of eight of her siblings were affected. Despite this, FH was not diagnosed early, and cascade screening of family members was not conducted, resulting in a missed opportunity to prevent PCAD.

Discussion: Familial hypercholesterolaemia can be clinically diagnosed in primary care to identify those who may require genetic testing. Multidisciplinary care focuses on improving identification, cascade screening, and management of FH, which is vital to improving prognosis and ultimately preventing PCAD.

Keywords: Case report; Familial hypercholesterolaemia; Heterozygous; LDLR gene mutation; Multidisciplinary management; Premature coronary artery disease; Primary care.

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Conflict of interest statement

Conflict of interest: None declared.

Figures

Figure 1
Figure 1
Family pedigree chart.
Figure 2
Figure 2
Grade 2 corneal arcus in both eyes.
None
See this image and copyright information in PMC

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