Child-Parent Screening for Familial Hypercholesterolemia in Children Aged 1 to 3 Years

What this Trial Is About

Familial hypercholesterolemia (FH) is an inherited condition that causes high levels of low-density lipoprotein cholesterol (LDL-C) and increases the risk of early coronary artery disease in both men and women. This research aims to evaluate the effectiveness and feasibility of a child-parent screening program to identify children around 2 years old and their parents who carry FH mutations and are at high risk of inherited heart disease. The study will help establish early diagnosis methods and screening techniques for FH families. The screening process involves multiple steps: first, children aged around 2 years will have a fingertip capillary blood test to measure total cholesterol (TC). Those with TC above the 95th percentile will be retested, and children with TC above the 99th percentile will undergo whole exome sequencing (WES) to identify FH mutations. Additionally, parents of children diagnosed with FH through this process will receive TC and mutation testing. The Children's Hospital of Fudan University will provide further treatment to identified cases. Participants will be involved in the initial blood tests and genetic testing if indicated. Researchers will assess cholesterol levels through fingertip and serum tests, analyze genetic mutations, and determine FH status for both children and their parents. The primary outcome measured is the affected status of familial hypercholesterolemia at enrollment. Secondary outcomes include fasting total cholesterol levels from finger blood tests, FH mutation status, and serum LDL cholesterol levels in children with high TC. The study is observational and will enroll children aged 1 to 3 years.

Child-Parent Familial Hypercholesterolemia Screening