RESUMO
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.
RESUMO
BACKGROUND: Self-management support has been recognized as one of the most essential elements of the Chronic Care Model (CCM). Inspired by the CCM, the EMPOWER-SUSTAIN Global Cardiovascular Risks Self-Management Booklet© was developed to aid and sustain self-management among patients with metabolic syndrome (MetS) in primary care to prevent cardiovascular complications. However, the usability of this booklet among these patients is not known. Therefore, this study aimed to evaluate the usability of this self-management booklet and identify the factors associated with its usability among patients with MetS in primary care. METHODS: This cross-sectional study was conducted among patients with MetS attending a university primary care clinic in Selangor, Malaysia. The usability score was measured using a previously translated and validated EMPOWER-SUSTAIN Usability Questionnaire (E-SUQ) with a score of > 68 indicating good usability. Multiple logistic regressions determined the factors associated with its usability. RESULTS: A total of 391 patients participated in this study. More than half (61.4%) had a good usability score of > 68, with a mean (± SD) usability score of 72.8 (± 16.1). Participants with high education levels [secondary education (AOR 2.46, 95% CI 1.04, 5.83) and tertiary education (AOR 2.49, 95% CI 1.04, 5.96)], those who used the booklet at home weekly (AOR 2.94, 95% CI 1.63, 5.33) or daily (AOR 2.73, 95% CI 1.09, 6.85), and those who had social support to use the booklet (AOR 1.64, 95% CI 1.02, 2.64) were significantly associated with good usability of the booklet. CONCLUSIONS: The usability of the EMPOWER-SUSTAIN Global Cardiovascular Risks Self-Management Booklet© was good among patients with MetS in this primary care clinic, which supports its widespread use as a patient empowerment tool. The findings of this study also suggest that it is vital to encourage daily or weekly use of this booklet at home, with the support of family members. The focus should also be given to those with lower education to improve the usability of this booklet for this group of patients.
