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.
Study Type
OBSERVATIONAL
Enrollment
150
No intervention.
Örebro University hospital
Örebro, Sweden
Prevalence of mutations.
The prevalence of known and newly discovered mutations associated with FH in the study population.
Time frame: 2 years
Prognosis, composite endpoint.
Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.
Time frame: 10 years
Prognosis, individual endpoint.
Time to the individual endpoints: death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure, stroke.
Time frame: 10 years
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