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.

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.

Methods: A retrospective review of electronic medical records was conducted to assess the prescription of SPMs among patients with coronary artery disease who attended the clinic between 1st January 2018 and 31st December 2018. Prescriptions of SPMs were documented in numbers and percentages. Multiple logistic regressions were used to analyse factors associated with the prescription of SPMs.

Results: Of the 662 patients included in the study, 99.1% were prescribed statins, 97% antiplatelets, 81.7% angiotensin-converting enzyme (ACE)-inhibitors or angiotensin II receptor blockers (ARBs), and 78.7% beta-blockers. Male patients were more likely to be prescribed statins (OR = 8.584, 95% CI: 1.431 - 51.510) and antiplatelets (OR = 6.818, 95% CI: 2.294 - 20.257). Another significant factor for antiplatelets prescription was having diabetes (OR = 3.318, 95% CI: 1.148 - 9.590). Having hypertension was associated with ACE-inhibitors or ARBs prescription (OR = 4.008, 95% CI: 2.522 - 6.370).

METHODS: REDISCOVER, a prospective study, enrolled 11,288 adults where sociodemographic data, anthropometric and blood pressure measurements, fasting lipid profile and glucose, and history of diabetes, hypertension, and smoking were obtained. The cross-sectional analytic sample presented in this article comprised 10,482 participants from baseline recruitment. The data was analysed by descriptive statistics and multivariable logistic regression.

RESULTS: The overall prevalence of elevated TC, elevated LDL-c, elevated TG, low HDL-c, and elevated non-HDL-c were 64.0% (95% CI 63.0-65.0), 56.7% (CI 55.7-57.7), 37.4% (CI 36.5-38.4), 36.2% (CI 35.2-37.1), and 56.2% (CI 55.3-57.2), respectively. Overweight, obesity, and central obesity were highly prevalent and significantly associated with elevated TC and all dyslipidaemia subtypes. Older age was associated with elevated TC, elevated LDL-c and elevated non-HDL-c. Hypertension was associated with elevated TC, elevated TG, and elevated non-HDL-c, while diabetes was associated with elevated TG and low HDL-c.

METHODOLOGY: Using the software-development-life-cycle (SDLC) iterative model, storyboard and wireframe were drafted; and a mock prototype was designed to illustrate the content and function graphically. Subsequently, a working prototype was developed. Qualitative studies using the 'think-aloud' and cognitive-task-analysis methods were conducted for the utility and usability testing. Topic guide was based on the 10-Nielsen's-Heuristic-Principles. Utility testing was conducted among PCP in which they 'thought-aloud' while performing tasks using the mobile app. Usability testing was conducted among MetS patients after they were given the app for 3 weeks. They 'thought-aloud' while performing tasks using the app. Interviews were audio- and video-recorded, and transcribed verbatim. Thematic content analysis was performed.

RESULT: Seven PCP and nine patients participated in the utility and usability testing, respectively. Six themes (efficiency of use, user control and freedom, appearance and aesthetic features, clinical content, error prevention, and help and documentation) emerged. PCP found the mobile app attractive and relevant sections were easy to find. They suggested adding 'zoom/swipe' functions and some parts needed bigger fonts. Patients commented that the app was user-friendly, has nice interface, and straightforward language. It helped them understand their health better. Based on these findings, the mobile app was refined.

METHODOLOGY: This was a cross-sectional study, conducted among patients aged ≥ 18 years with cardiovascular risk factors attending a university primary care clinic. Patients were given the app to use for at least three months. Those who fulfilled the eligibility criteria were recruited. Data gathered were on sociodemographic, clinical characteristics, self-management support by doctors, utilisation of the app at home and social support in using the app. The previously translated and validated Malay version of the mHealth App Usability Questionnaire was used to measure usability. The mean usability score was calculated and linear regressions analysis was conducted to determine the factors associated with the usability of the app.

RESULTS: A total of 247 patients with at least one cardiovascular risk factor(s) were recruited. The mean age was 60.2 (±8.2). The majority were Malays (86.2%) and half of them were males (52.2%). The total mean (±SD) usability score was 5.26 (±0.67) indicating a high usability of the app. Usability of the app declined with increasing age in the simple linear regressions analysis. The multiple linear regressions yielded that being Malay (b = 0.31, 95% CI 0.08,0.54), using the app at home to understand their medications (b = 0.33, 95% CI 0.12,0.53) and having social support from family members and friends (b = 0.28, 95% CI 0.07,0.49) were significantly associated with higher usability of the app.

OBJECTIVE: This study aims to (1) compare the detection rate of genetically confirmed FH and diagnostic accuracy between the FAMCAT, SB, and DLCC in the Malaysian primary care setting; (2) identify the genetic mutation profiles, including novel variants, in individuals with suspected FH in primary care; (3) explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing in primary care; and (4) evaluate the clinical utility of a web-based FH Identification Tool that includes the FAMCAT, SB, and DLCC in the Malaysian primary care setting.

METHODS: This is a mixed methods evaluation study conducted in 11 Ministry of Health primary care clinics located at the central administrative region of Malaysia. In Work stream 1, the diagnostic accuracy study design is used to compare the detection rate and diagnostic accuracy of the FAMCAT, SB, and DLCC against molecular diagnosis as the gold standard. In Work stream 2, the targeted next-generation sequencing of the 4 FHCGs is used to identify the genetic mutation profiles among individuals with suspected FH. In Work stream 3a, a qualitative semistructured interview methodology is used to explore the experience, concern, and expectation of individuals with suspected FH who have undergone genetic testing. Lastly, in Work stream 3b, a qualitative real-time observation of primary care physicians using the "think-aloud" methodology is applied to evaluate the clinical utility of a web-based FH Identification Tool.

RESULTS: The recruitment for Work stream 1, and blood sampling and genetic analysis for Work stream 2 were completed in February 2023. Data collection for Work stream 3 was completed in March 2023. Data analysis for Work streams 1, 2, 3a, and 3b is projected to be completed by June 2023, with the results of this study anticipated to be published by December 2023.

CONCLUSIONS: This study will provide evidence on which clinical diagnostic criterion is the best to detect FH in the Malaysian primary care setting. The full spectrum of genetic mutations in the FHCGs including novel pathogenic variants will be identified. Patients' perspectives while undergoing genetic testing and the primary care physicians experience in utilizing the web-based tool will be established. These findings will have tremendous impact on the management of patients with FH in primary care and subsequently reduce their risk of premature coronary artery disease.