Child-Parent Familial Hypercholesterolemia Screening

Study Overview
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Brief Summary
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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: The 95th and 99th percentile of finger blood TC in children of 2 years old. Mutations that contribute to high TC status ( serum TC >99th percentiles) compared with international FH48 panel for FH genetc screening.

Detailed Description
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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.

Official Title
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Child-Parent Screening of Familial Hypercholesterolemia in Children

Conditions
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Familial Hypercholesterolemia

Intervention / Treatment
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* Other: no interventions


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Receive routine child care aged 1 - 3 years old ( date of investigate minus date of birth) Exclusion Criteria: It is up to the researcher to decide whether it is suitable to participate in this research

Ages Eligible for Study
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Minimum Age: 1 Year
Maximum Age: 3 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: no interventions|it is a observational study, do not have interventions.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The affected status of Familial Hypercholesterolemia | heterozygote or homozygote carriers of established FH mutations in LDLR, PSCK9 and APOB gene, including mutations included in the FH48 and new ones identified in Chinese children | At enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| fasting total cholesteral level by Fingertip capillary blood test in children around 2 years old |  | At enrollment | 
| affected status of known FH mutation | according to FH48 | At enrollment | 
| fasting serum LDL-c levels of children with finger TC over P95 |  | At enrollment |