Identification of familial hypercholesterolaemia in primary care in a developing country: is it feasible?

Conference:

SAPC ASM 2022 - UCLan

Talk Code:

4D.2

Presenter:

Hasidah Abdul-Hamid

Twitter:

@hasidah92

Co-authors:

Hasidah Abdul-Hamid1,2, Joe Kai1, Anis Safura Ramli3, Hapizah Mohd-Nawawi3, N. Qureshi1

Author institutions:

1Primary Care Stratified Medicine (PRISM) Research Group, School of Medicine, University of Nottingham, Nottingham, United Kingdom 2Department of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Selangor, Malaysia 3Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Selangor, Malaysia

Problem

Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, causing elevated LDL-c from birth. If left untreated, FH leads to premature heart disease and early death. However, most people with FH remain undiagnosed and thus fail to benefit from highly effective and low-cost treatment. The aim of this study is to investigate the feasibility of identifying FH in Malaysian primary care.

Approach

Consecutive patients attending two primary care clinics in Malaysia were recruited into the study. Relevant information was obtained from the patients; including their socio-demographic and significant personal and family medical history. Patients' lipid profiles were obtained from the clinic medical records. Patients’ risk of FH were calculated using three FH case-finding criteria (Simon Broome (SB), Dutch Lipid Clinic Network (DLCN) and FAMCAT). Patients identified as high risk of FH on either of these criteria were then referred to the Specialist Lipid Clinic for further management and genetic testing.

Findings

A total of 1,191 patients were approached during the study period, just over half (637 patients) agreed to participate. Only 619 patients met the eligibility criteria. 65 (10.5%) patients had high risk of FH according to SB, DLCN and/or FAMCAT, and required referral to Lipid Specialist Clinic. However, only 52 (8.4%) patients agreed to be referred. 26 of the patients were eventually assessed in Lipid Specialist Clinic and underwent genetic testing. A total of 11 (1.78%) patients had positive mutation in the genetic testing. Among the 619 patients recruited, the mean age was 58.09 (SD±12.44), male 310 (50.08%), majority were of Malay ethnicity (542, 87.56%), married (548, 88.53%), and had tertiary education (297, 47.98%). The mean lipid parameters for these patients (in mmol/L) were: TC: 5.34 (SD±1.29); LDL-C: 3.27 (SD±1.16); triglycerides: 1.66 (SD±1.10); and HDL-C: 1.34 (SD±0.34).

Consequences

Identification of FH is feasible in primary care in a developing country such as Malaysia. Utilising FH clinical diagnostic criteria such as Simon Broome (SB), Dutch Lipid Clinic Network (DLCN) and FAMCAT offers a cheaper and more convenient alternative to genetic diagnosis.

Submitted by:

Hasidah Abdul-Hamid

Funding acknowledgement:

This study was funded by Universiti Teknologi MARA Malaysia, grants no. 600-IRMI 5/3/LESTARI (047/2018) and 600-IRMI/DANA 5/3/BESTARI (127/2018).