Familial hypercholesterolemia
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: - Diagnosis of familial hypercholesterolemia of unknown origin (FH4) based on Dutch Lipid Clinic Network criteria (Nordestgaard et al. 2013) and negative DNA-testing (mutations in LDLR, ApoB, PCSK9). - Untreated LDL-cholesterol levels of > 95th percentile for affected members - 18-65 years of age;Controls: - Unaffected family member with untreated LDL-cholesterol between 20-60th percentile - 18-65 years of age Or: - Persons with mutations in LDLR, APOB, or PCSK9 gene or other genes involved in lipid metabolism. - 18-65 years of age
Exclusion criteria
Exclusion criteria: · Heavy alcohol use · Dysthyroidism · Pregnancy, breastfeeding · Renal insufficiency (creatinine >150 µmol/L) · Diabetes mellitus
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Tracer/tracee ratio, pool size, fractional catabolic rate, and production rate in FH4 subjects compared with (family) controls and/or dyslipidemic patients with mutations in established lipid genes. | — |
Secondary
| Measure | Time frame |
|---|---|
| n.v.t. | — |
Countries
Netherlands