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Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database
Yasuaki Takeji1, Hayato Tada1, Masatsune Ogura2
1Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
Insights
This study reveals diverse clinical and genetic traits in Japanese patients with homozygous familial hypercholesterolemia (HoFH). Despite available therapies, LDL cholesterol management remains inadequate for these high-risk patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pharmacology
Background:
- Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely high LDL cholesterol levels.
- Studies detailing patient characteristics and lipid-lowering therapies for HoFH are limited, particularly in Asian populations.
Purpose of the Study:
- To evaluate the clinical and genetic characteristics of patients diagnosed with HoFH in Japan.
- To assess the lipid-lowering treatment strategies employed and their effectiveness in managing LDL cholesterol levels in HoFH patients.
Main Methods:
- A national database was utilized to identify and analyze data from 201 patients with definite or probable HoFH.
- Patient demographics, genetic mutations (LDLR, PCSK9), comorbidities (coronary artery disease, valvular disease), and lipid-lowering treatments were retrospectively reviewed.
Main Results:
- The median age of HoFH diagnosis was 27 years, with a bimodal distribution. Approximately 70% of patients had coronary artery disease.
- LDLR mutations were most common, followed by PCSK9 mutations. Treatments included high-intensity statins (74%), lipoprotein apheresis (21%), and PCSK9 inhibitors (50%).
- Mean LDL cholesterol decreased from 10.1 mmol/L to 3.9 mmol/L post-treatment. Valvular diseases, especially aortic, affected 24% of patients.
Conclusions:
- This epidemiological study provides insights into the clinical and genetic profiles of HoFH patients in Japan.
- Significant phenotypic diversity exists among HoFH patients, highlighting the complexity of the condition.
- Despite intensive lipid-lowering therapies, LDL cholesterol management in Japanese HoFH patients remains suboptimal.
Background:
The studies evaluating patients' characteristics and lipid-lowering therapy for patients with homozygous familial hypercholesterolemia (HoFH) are scarce.
Objectives:
This study aims to evaluate the characteristics of and treatments for patients with HoFH.
Methods:
This study included 201 patients who were diagnosed with definite or probable HoFH from the National Database of the Japanese Ministry of Health, Labour, and Welfare.
Results:
The patients' median age at diagnosis was 27 years and exhibited a bimodal distribution. Approximately 70% of patients had coronary artery disease. Regarding genetic backgrounds, mutations in the low-density lipoprotein (LDL) receptor (LDLR) were identified in most of the patients, followed by proprotein convertase subtilisin/kexin type 9 (PCSK9) and double heterozygotes of LDLR. High-intensity statins were introduced to 74% of the patients, lipoprotein apheresis was performed in 21%, and PCSK9 inhibitors were administered to 50%. The mean of LDL cholesterol before and after treatment were 10.1 mmol/L and 3.9 mmol/L, respectively. Patients with coronary artery disease had significantly decreased LDL cholesterol. A quarter of the patients (n = 49, 24%) exhibited valvular diseases, particularly aortic valvular disease (n = 34, 61%).
Conclusions:
The national epidemiological study of patients with HoFH showed patient's clinical and genetic characteristics and LDL-lowering therapy in Japan. There was considerable diversity in the severity of phenotypes, including LDL cholesterol levels, among patients with HoFH. In Japan, the management of LDL cholesterol in HoFH is still inadequate despite the availability of intensive lipid-lowering therapies.
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