Genetic Causes of Familial Hypercholesterolemia

Genetiska Orsaker Till familjär Hyperkolesterolemi- Mekanism, Prognos Och Individanpassad Behandling

Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.

In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.

The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.

The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.

Inclusion Criteria:

1. Age 8 years or older.
2. Clinical suspicion of FH
3. Dutch Lipid Clinic Network Score of at least four or a first grade relative with a genetic deviation that may be associated with FH.

Exclusion Criteria:

1) Age below 8 years.