Context Familial hypercholesterolaemia (FH) is a common autosomal dominant disorder, causing elevated cholesterol from birth, premature heart disease, and early death. Objective This study explored primary care physicians' experiences and perspectives on identifying FH in Malaysian primary care. Study Design and Analysis A qualitative study involving semi-structured interviews and focus group discussions with 22 primary care physicians (PCPs) in two primary care clinic settings. The interviews and focus group discussions were audio recorded, and the recordings were transcribed verbatim. The data in the transcripts were analysed using thematic approach. Setting Primary Care Clinics Population Studied Primary Care Physicians in two primary care clinics. Intervention A qualitative study involving semi-structured interviews and focus group discussions Outcome Measures Primary Care Physicians' perceptions and experiences of identifying individuals at high risk of FH in their clinical practice, and the acceptability and perceived challenges of trying to do this were explored during the interviews and focus group discussions. Findings PCPs felt there was potential for FH to be identified earlier in primary care. They had some existing knowledge and awareness of diagnostic criteria for FH but highlighted several challenges. In their practice, this included limited time in routine clinical care, availability of medication and clinical expertise; and critical lack of family history and physical examination findings in health records. The barriers on a systemic level were shortage of lipid specialist services and the absence of local care pathways for FH. The PCPs recommended a user-friendly case-finding tool for FH, and establishing FH registry and clinical practice guideline in Malaysia, alongside a national FH screening strategy and awareness campaigns for both clinicians and general public. Conclusions PCPs are positive about improving the identification of FH in primary care. However greater support in their practice and wider system developments and change are needed.
* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.