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Published on: September 15, 2018
Management of Familial Hypercholesterolemia in Hong Kong
Miao Hu1, Amanda J Hooper, Frank M van Bockxmeer
1Department of Medicine and Therapeutics, The Chinese University of Hong Kong.
Insights
Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol and early heart disease. Early identification and statin treatment, often with ezetimibe or newer agents, are crucial for managing FH patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is an autosomal-dominant genetic disorder.
- Characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) levels.
- Associated with a substantially increased risk of premature atherosclerotic coronary heart disease (CHD).
Purpose of the Study:
- To describe the identification and management of Familial hypercholesterolemia (FH) patients in Hong Kong.
- To report on the clinical characteristics and treatment outcomes of FH.
- To emphasize the importance of early detection and optimal therapy for reducing cardiovascular risk.
Main Methods:
- Identification of probands with hypercholesterolemia (Total Cholesterol >7.5 mmol/L or LDL-C >4.9 mmol/L).
- Cascade screening of relatives within identified pedigrees since the early 1990s.
- Analysis of clinical data including lipid levels, xanthomata presence, and coronary heart disease (CHD) prevalence.
Main Results:
- A previous study of 252 subjects from 87 FH pedigrees reported a mean LDL-C of 7.2±1.5 mmol/L.
- Xanthomata were observed in 40.6% of males and 54.8% of females.
- Prevalence of known CHD was 9.9% in males and 8.5% in females; most patients achieved LDL-C goals with statins, with ezetimibe or PCSK9 inhibitors used for refractory cases.
Conclusions:
- Optimal treatment, including statins and potentially ezetimibe or PCSK9 inhibitors, can effectively manage LDL-C levels in FH patients.
- Increased awareness and early identification are critical for reducing CHD risk and improving long-term outcomes.
- Comprehensive management strategies are essential for enhancing the quality of life and life expectancy of individuals with FH.
Abstract:
Familial hypercholesterolemia (FH) is an autosomal-dominant genetic disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature atherosclerotic coronary heart disease (CHD). Patients with FH in Hong Kong were found by the identification of potential probands with primary hypercholesterolemia manifesting total cholesterol levels greater than 7.5 mmol/L or LDL-C levels greater than 4.9 mmol/L and undertaking cascade screening of available relatives in the Department of Medicine & Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong since the early 1990s. Our previous study in a group of 252 subjects from 87 pedigrees clinically diagnosed as having heterozygous FH reported the mean plasma LDL-C level as 7.2±1.5 mmol/L. Xanthomata were present in 40.6% of males and 54.8% of females. The prevalence of known CHD was relatively low at 9.9% in males and 8.5% in females. All FH patients were offered treatment with statins and many of them reached the LDL-C goal with a moderate or high dose of potent statin alone. Ezetimibe is usually added for patients who have not achieved target LDL-C levels on statin alone, particularly in patients with established CHD. Some FH patients who have not achieved the LDL-C targets with this combination have entered into clinical trials with new cholesterol-modifying agents such as the monoclonal antibodies to proprotein convertase subtilisin-kexin type 9. Increased awareness, early identification, and optimal treatment are essential to reduce the risk of CHD, increase life expectancy, and improve the quality of life of patients with FH.
