Autosomal Dominant Hypercholesterolaemia Inherited Hypercholesterolaemia
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: I) Individuals with molecular defined homozygous ADH (two molecular defects in two different alleles in the ADH causing genes (LDLR, APOB or PCSK9)) without the clinical phenotype for homozygous ADH (LDL-C 13 mmol/L without lipid lowering therapy or LDL-C levels > 7.8 mmol/L while receiving maximal dose of a statin and ezetimibe) (according to the clinical criteria for homozygous ADH).
Exclusion criteria
Exclusion criteria: Indication of another clinical condition that (in the opinion of the investigator) might explain the extreme ADH phenotype I) Thyroid dysfunction II) Renal insufficiency III) Cholestasis IV) Alcohol use V) Use of medication known to impact lipid metabolism (including but not limited to psychopharmacologic therapeutics, protease inhibitors, beta blockers, thiazide diuretics).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1) Identification of novel (epi) genetic causes of extreme ADH phenotypes. 2) Carotid IMT measurements: - The mean difference in age and gender adjusted cIMT between the two extreme ADH populations. - The mean difference in age and gender adjusted cIMT between the separate ADH populations and their first and second degree relatives. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Mean difference in age and gender adjusted cIMT between molecularly defined homozygous and molecularly defined heterozygous ADH patients matched for age, gender and plasma LDL-C levels. To reach this endpoint, homozygous ADH patients in our cohort will be matched with heterozygote ADH patients in whom a cIMT measurement was previously performed (METC 07/138#). | — |
Countries
Netherlands
Outcome results
None listed