Children's Hospital of Fudan University
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice. key scitific questions: 1. The 95th and 99th percentile of finger blood TC in children of 2 years old. 2. Mutations that contribute to high TC status ( serum TC \>99th percentiles) compared with international FH48 panel for FH genetc screening.
Familial Hypercholesterolemia
no interventions
Familial hypercholesterolemia (FH) is an inherited condition resulting in high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary artery disease in men and women. Child-parent screening for familial hypercholesterolemia has been proposed to identify persons who are carriers of FH mutations and with high risk for inherited premature coronary artery disease. The investigators will conduct a cross-sectional community-based screening in children of 2 years old to detect FH children cases using finger blood TC test first and followed by serum TC test and mutation test, and to identify and diagnose their affected parents. This study aims to established the Child-parent screening program and technique issues for early diagnosis of familial hypercholesterolemia families for future early intervention. Child-parent screening strategy in our study consists three steps: i. Apillary blood total cholesterol test of children aged around 2 years; ii. re-test for children with cholesterol\>95th percentile in the first step; iii. WES (whole exome sequencing) test for \>P99 in the first two steps. iV: TC test and mutation test to the parents of the child FH cases. The investigators will determine FH families based on the program. Children's Hospital of Fudan University will provide treatment further.
| Study Type : | OBSERVATIONAL |
| Estimated Enrollment : | 15000 participants |
| Official Title : | Child-Parent Screening of Familial Hypercholesterolemia in Children |
| Actual Study Start Date : | 2025-04-01 |
| Estimated Primary Completion Date : | 2026-09-30 |
| Estimated Study Completion Date : | 2026-09-30 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 1 Year to 3 Years |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: |
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