Genetic Causes of Familial Hypercholesterolemia

Region Örebro County

Status: Active, not recruiting

Conditions: Familial Hypercholesterolemia

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT04101149

262231

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 150 estimated patients

Sex: All

Ages: 8+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

150 participants in 1 patient group

Group 1

Description:

Patients with high clinical suspicion of familial hypercholesterolemia. No intervention.

Treatment:

Other: No intervention