Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

Abstract

The official journal of the Japan Atherosclerosis Society and the Asian Pacific Society of Atherosclerosis and Vascular Diseases Review Familial hypercholesterolemia (FH) is a common genetic disease that is estimated to affect at least 15 million people in the Asia Pacific region. Affected individuals are at significantly increased risk of premature atherosclerotic cardiovascular disease. A literature review was undertaken to provide an overview of the epidemiology, diagnosis, and management of FH across the region.Currently, epidemiological data relating to FH are lacking across the Asia Pacific. Of the 15 countries and regions considered, locally conducted studies to determine FH prevalence were only identified for Australia, China, India, and Japan. Although practically all national clinical guidelines for dyslipidemia include some commentary on FH, specific guidelines on the management of FH are available for only one third of the countries and regions evaluated. Estimates of current FH diagnosis rates suggest that most affected individuals remain undiagnosed and untreated. Although innovative medications such as proprotein convertase subtilisin/ kexin type 9 inhibitors have been approved and are available in most countries and regions considered, they are currently reimbursed in only one quarter.Despite these shortcomings, there is cause for optimism. Early experience with cascade screening in Hong Kong, India, and Vietnam has proven an effective means of identifying family members of probands, as has a reverse screening of family members of children with FH in China. FH registries are gaining momentum across the region, with registries now established in almost half of the countries and regions evaluated. This review concludes with a Call to Action on FH for Asia Pacific to engage healthcare professionals, improve public awareness, and form national FH alliances, comprising all relevant healthcare professional organizations, as a platform to expedite national quality improvement programs in the management of FH.(LDL) receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin type 9 (PCSK9) cause FH. FH poses a major threat to public health because affected individuals are at significantly increased risk of premature atherosclerotic cardiovascular disease (ASCVD) 1) . Untreated individuals with homozygous

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“…In lifestyle guidance for PLWH, small effects on weight and triglycerides were observed, but LDL and HDL cholesterol remained unchanged (Stradling et al, 2021). In addition, the diagnosis rate of hereditary hyper-LDL cholesterolemia is low in Asia (3-10%) and is rarely diagnosed in routine practice (Kalra et al, 2021). Thus, when lifestyle modification alone is not sufficient to control lipids, pharmacotherapy is generally used in combination with drug therapy (European AIDS Clinical Society, 2021; Japan Atherosclerosis Society, 2022).…”

Developing a Hybrid Risk Assessment Tool for Familial Hypercholesterolemia: A Machine Learning Study of Chinese Arteriosclerotic Cardiovascular Disease Patients

“…Details for specific items have also been provided in the DLCN [2] MEDPED [3] JFHMC [4] LDL-C/TC [5] AHA [6] SCCFH [7] Lp(a)+DLCN [8] mDLCN [9] TW [10] CHC [11] Lipid levels Physical examination SBR [1], Simon Broome Register; DLCN [2], Dutch Lipid Clinic network; MEDPED [3], make early diagnosis to prevent early deaths; JFHMC [4], Japanese FH Management Criteria; LDL-C/TC [5], TC&LDL-c; AHA [6], American Heart Association; Lp(a)DLCN [7], Lp(a)add DLCN; SCCFH [8], Simplified Chinese Criteria for Familial Hypercholesterolemia; mDLCN [9], modified DLCN for China; TW [10], Taiwan FH diagnostic criteria; CHC [11], 2018 Chinese criteria.…”

“…Underdiagnosis and indeed undertreatment create problems for patients with FH around the world ( 2 ). Unfortunately, the global rate of FH diagnosis is only approximately 1% ( 3 ), despite having an estimated prevalence of 1:313 ( 4 ) in the general population. There is, however, increasing interest in FH due to growing concerns about the rising levels of cholesterol in diets ( 5 ).…”

“…The FH diagnosis rate is <0.1% in China ( 3 ). The phenotypic tools were applied; however, DLCN had low specificity and SBR had low sensitivity ( 15 ) in mainland Chinese populations.…”

The Malaysian HEalth and WellBeing AssessmenT (MyHEBAT) Study Protocol: An Initiation of a National Registry for Extended Cardiovascular Risk Evaluation in the Community

“…Familial hypercholesterolaemia (FH) is a common autosomal dominant genetic disorder that leads to severe elevation of low-density lipoprotein cholesterol (LDL-C) in the blood at a young age [ 12 , 13 , 14 ], which subsequently accelerates the development of atherosclerotic cardiovascular disease (ASCVD). Despite the significant role of FH in causing ASCVD, FH is still underdiagnosed, and many FH patients with an established diagnosis are still undertreated [ 15 , 16 , 17 ].…”