The American Journal of Case Reports · 16 authors, 7 centres
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This case series describes three patients with genetically confirmed familial hypercholesterolemia (FH) identified and initially managed in primary care in Malaysia. The study highlights that patients with different gene mutations (LDLR, APOB, and PCSK9) can present with varying phenotypes and LDL-c levels.
This case series reports on three patients aged 39 to 57 years identified with genetically confirmed heterozygous familial hypercholesterolemia (HeFH) in a Malaysian primary care setting. Patients were identified using clinical diagnostic criteria and underwent genetic testing, which confirmed pathogenic mutations in the LDLR and APOB genes for two patients. A third patient had a PCSK9 mutation of uncertain pathogenicity. The patient with the LDLR mutation had the highest LDL-c level at 8.6 mmol/L and tendon xanthomas, while the patient with the APOB mutation had an LDL-c level of 5.7 mmol/L and corneal arcus. The patient with the PCSK9 mutation had an LDL-c level of 5.4 mmol/L and no classic physical findings. All patients were initially managed in primary care with statins and lifestyle modifications before being referred to lipid specialists for treatment up-titration. The series demonstrates the variable phenotypic expression of FH based on different genetic mutations and emphasizes the pivotal role of primary care physicians in FH detection, genetic counseling, management, and cascade screening of family members.
