Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

Aisyah Kamal; Johanes Dedi Kanchau; Nur Syahirah Shahuri; Mohamed-Syarif Mohamed-Yassin; Noorhida Baharudin; Suraya Abdul Razak; Siti Fatimah Badlishah-Sham; Hasidah Abdul-Hamid; Aznida Firzah Abdul Aziz; Alyaa Al-Khateeb; Yung An Chua; Noor Alicezah Mohd Kasim; Siti Hamimah Sheikh Abdul Kadir; Hapizah Nawawi; Nadeem Qureshi; Anis Safura Ramli

doi:10.12659/AJCR.939489

27 April 2023 : Case report Malaysia

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

Unusual setting of medical care, Rare disease

Aisyah Kamal^1BCDEF, Johanes Dedi Kanchau^1BCDEF, Nur Syahirah Shahuri^1BCDE, Mohamed-Syarif Mohamed-Yassin^2DE, Noorhida Baharudin^12DE, Suraya Abdul Razak^123DE, Siti Fatimah Badlishah-Sham^2DE, Hasidah Abdul-Hamid^24DE, Aznida Firzah Abdul Aziz^5DE, Alyaa Al-Khateeb^16DEF, Yung An Chua^16DEF, Noor Alicezah Mohd Kasim^17DE, Siti Hamimah Sheikh Abdul Kadir^89DEF, Hapizah Nawawi^1DE, Nadeem Qureshi^4DE, Anis Safura Ramli^12ADEG*

DOI: 10.12659/AJCR.939489

Am J Case Rep 2023; 24:e939489

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Table 1. Summary of the genetic mutations of patients presented in this case series.

Details	Case 1	Case 2
Age (years)	39	57	41
Sex	Female	Female	Male

Premature coronary artery disease	No	No	No
ROSE Angina Questionnaire results	Negative	Positive	Negative
Premature cerebrovascular disease	No	No	No
Edinburgh Claudication Questionnaire results	Negative	Negative	Negative
Chronic kidney disease	No	No	No
Diabetes	No	No	No
Hypothyroidism	No	No	No

Premature coronary heart disease (male	YesFather had MI at 46 years of age and CABG at 47 years old	No	No
Premature cerebrovascular or peripheral vascular disease (male	NoMaternal grandfather had a minor stroke at 82 years of age	YesMother had a stroke at 54 years old, deceased from a recurring stroke at 56 years of age	YesMother had a stroke at 60 years old
Hypercholesterolemia	YesFather – on PCSK9 inhibitor; paternal grandfather; paternal uncle; maternal grandfather	YesFather and siblings	No
First degree relatives with corneal arcus	No	YesElder sister & younger brother in their 40s	No
First degree relatives with tendon xanthomas	YesFather, paternal uncle, paternal grandfather	No	No

Xanthomas	YesKnuckles, Achilles tendon, knees	No	No
Premature corneal arcus (	No	YesPatient noticed since her 30 s	No

Current medication	Atorvastatin 20 mg	Simvastatin 20 mg	Simvastatin 10 mg

The highest TC ever recorded	10.4	8.5	7.3
The highest LDL-c ever recorded	8.6	5.7	5.4
Triglycerides	1.2	0.9	2.1
HDL-c	1.3	2.4	0.9

Simon Broome criteria	Definite	Possible	Possible
DLCC score	16	14	4
FAMCAT relative risk score	32.3	4.4	0.6

Gene
Exon	4	26	2
Nucleotide change	c.660del	c.10579C>T	c.277C>T
Chromosome position	chr19-11216238-GC-G	chr2-21229161-G-A	chr1-55509585-C-T
rs number	rs875989905	rs144467873	rs151193009
Amino acid change	p.Asp221fs	p.Arg3527Trp	p.Arg93Cys
Type of mutation	Frameshift (deletion)	Missense	Missense
Pathogenicity of variants based on ACMG Guidelines	Pathogenic	Pathogenic	Likely benign
CKD – chronic kidney disease; TC – total cholesterol; LDL-c – low-density lipo-protein cholesterol; HDL-c – high-density lipoprotein cholesterol; DLCC – Dutch Lipid Clinic Criteria; FAMCAT – familial hypercholesterolemia case ascertainment identification tool; ACMG – American College of Medical Genetics and Genomics.

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Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

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