Familial Hypercholesterolemia
Conditions
Brief summary
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 scientific 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 genetic screening.
Detailed description
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. Capillary 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.
Interventions
OTHERno interventions
it is a observational study, do not have interventions.
Sponsors
Children's Hospital of Fudan University
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Years to 3 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The affected status of Familial Hypercholesterolemia | At enrollment | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old | At enrollment | — |
| affected status of known FH mutation | At enrollment | according to FH48 |
| fasting serum LDL-c levels of children with finger TC over P95 | At enrollment | — |
Countries
China
Contacts
CONTACTWeili Yan
CONTACTFang Liu, MD
STUDY_DIRECTORLIling Qian, Master
Children's Hospital of Fudan University
STUDY_DIRECTORRui Dong, MD
Children's Hospital of Fudan University
Outcome results
None listed