Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM), Universiti Teknologi MARA, Sungai Buloh.
Departments of Primary Care Medicine, Universiti Teknologi MARA.
J Atheroscler Thromb. 2021 Oct 1;28(10):1095-1107. doi: 10.5551/jat.57026. Epub 2021 Jan 15.
Familial hypercholesterolaemia (FH) is the most common autosomal dominant lipid disorder, leading to severe hypercholesterolaemia. Early detection and treatment with lipid-lowering medications may reduce the risk of premature coronary artery disease in FH patients. However, there is scarcity of data on FH prevalence, detection rate, treatment and control with lipid-lowering therapy in the Malaysian community.
Community participants (n=5130) were recruited from all states in Malaysia. Blood samples were collected for lipid profiles and glucose analyses. Personal and family medical histories were collected by means of assisted questionnaire. Physical examination for tendon xanthomata and premature corneal arcus were conducted on-site. FH were clinically screened using Dutch Lipid Clinic Network Criteria.
Out of 5130 recruited community participants, 55 patients were clinically categorised as potential (Definite and Probable) FH, making the prevalence FH among the community as 1:100. Based on current total population of Malaysia (32 million), the estimated number of FH patients in Malaysia is 320,000, while the detection rates are estimated as 0.5%. Lipid-lowering medications were prescribed to 54.5% and 30.5% of potential and possible FH patients, respectively, but none of them achieved the therapeutic LDL-c target.
Clinically diagnosed FH prevalence in Malaysian population is much higher than most of the populations in the world. At community level, FH patients are clinically under-detected, with majority of them not achieving target LDL-c level for high-risk patients. Therefore, public health measures are warranted for early detection and treatment, to enhance opportunities for premature CAD prevention.
家族性高胆固醇血症（FH）是最常见的常染色体显性脂质代谢紊乱疾病，可导致严重的高胆固醇血症。在 FH 患者中，早期发现并使用降脂药物治疗可能会降低其发生早发性冠心病的风险。然而，在马来西亚社区中，FH 的患病率、检出率、降脂治疗的应用以及治疗达标率等数据仍十分匮乏。
在马来西亚的所有州，均招募了社区参与者（n=5130）。采集血样以进行血脂谱和血糖分析。通过辅助问卷收集个人和家族病史。现场进行肌腱黄色瘤和早发性角膜弓的体格检查。使用荷兰血脂诊所网络标准对 FH 进行临床筛查。
在 5130 名招募的社区参与者中，有 55 名患者被临床归类为潜在（明确和可能）FH，FH 在社区中的患病率为 1:100。根据马来西亚目前的总人口（3200 万），马来西亚 FH 患者的估计数量为 32 万，而检出率估计为 0.5%。潜在和可能 FH 患者中分别有 54.5%和 30.5%被处方降脂药物，但他们均未达到 LDL-c 治疗目标。
在马来西亚人群中，临床诊断的 FH 患病率远高于世界上大多数人群。在社区层面，FH 患者的临床检出率较低，大多数患者的 LDL-c 水平未达到高危患者的目标。因此，有必要采取公共卫生措施来进行早期发现和治疗，以提高预防早发性 CAD 的机会。
