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Abstract 14696: The Effectiveness of a Unique Community Health System in Detecting Familial Hypercholesterolemia in Kagawa, Japan
- Source :
- Circulation. 142
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- Introduction: Familial hypercholesterolemia (FH) is an autosomal hereditary disease found in patients who have elevated low-density lipoprotein cholesterol (LDL-C) levels from birth. Early detection and treatment of FH during childhood potentially reduces the risk of premature cardiovascular events. In Kagawa prefecture, a unique community health system, involving three steps, has been conducted to prevent lifestyle-related diseases for 10-year-old children. This system includes universal lipid screening, selection by pediatricians, and next-generation sequencing (NGS) of FH-related genes in the hospitals. The aim of this study is to investigate whether this system can be effective in detection of FH. Methods: In Kagawa prefecture, the universal lipid screening of children at 10 years of age is performed annually at school, covering over 90% of the target group. After excluding secondary hypercholesterolemia, pediatric clinics introduced children with LDL-C levels >140 mg/dL to four hospitals to perform NGS to detect FH. Results: In 2017, 279 children (3.7%) showed elevated LDL-C >140mg/dL among 7,647 ones who received the screening. We performed NGS for 46 children after excluding secondary hypercholesterolemia by pediatricians (LDL-C 186.0±50.3 mg/dL; M/F 27/19) and 26 children (57%) had FH genetic mutations (23 LDL-R, 3 PCSK9). The children with LDL-C >180mg/dL are recommended to receive statin therapy according to the guideline from the Japanese Atherosclerosis Society (JAS). Children with LDL-C levels ≥180 mg/dL have 74% of positive genetic mutations, and even those with 140-180 mg/dl LDL-C levels have as much as 44%, respectively (Table). Conclusions: The unique community health system in Kagawa can efficiently detect FH of children. Further investigation will be required for the effective prevention of future atherosclerotic cardiovascular diseases.
- Subjects :
- medicine.medical_specialty
business.industry
Cholesterol
Familial hypercholesterolemia
Disease
Gene mutation
medicine.disease
chemistry.chemical_compound
chemistry
Physiology (medical)
Internal medicine
Community health
medicine
In patient
Cardiology and Cardiovascular Medicine
business
Cholesterol screening
Lipoprotein cholesterol
Subjects
Details
- ISSN :
- 15244539 and 00097322
- Volume :
- 142
- Database :
- OpenAIRE
- Journal :
- Circulation
- Accession number :
- edsair.doi...........06765450c18cc293edd9e143694cf7fb