Familial hyperlipidemia combined with xanthoma
Conditions
Interventions
Observation group:None
Sponsors
West China Hospital of Sichuan University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Index cases: Patients with familial hypercholesterolemia who meet the clinical diagnosis criteria, voluntarily participate in this study, and sign the informed consent form. 2. Family members: Direct relatives (parents, siblings) and second-degree relatives (grandparents, maternal and paternal grandparents, uncles, aunts) of the index cases, who voluntarily participate in this study and sign the informed consent form.
Exclusion criteria
Exclusion criteria: 1. Unable to give informed consent; 2. Severe mental illness or cognitive impairment; 3. Women who are pregnant or breastfeeding; 4. Secondary high cholesterol: uncontrolled hypothyroidism, nephrotic syndrome, chronic liver disease, etc.; 5. Severe liver or kidney dysfunction, malignant tumors, serious infections, or active autoimmune diseases.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The diagnosis rate and carrier rate of FH in family members, the incidence rate of early-onset cardiovascular and cerebrovascular diseases in the family, the type of pathogenic gene and proteomic char; | — |
Secondary
| Measure | Time frame |
|---|---|
| Clinical phenotypic characteristics, differences in lipid levels among subjects with different genotypes; intervention rates and attainment rates of dyslipidemia among family members.; | — |
Countries
China
Contacts
Public ContactXingwu Ran
West China Hospital of Sichuan University
Outcome results
None listed