Genetic Causes of Familial Hypercholesterolemia

2019-09-27 06:30:39 | BioPortfolio


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 Design


Familial Hypercholesterolemia


No intervention


Örebro University hospital
701 85




Region Örebro County

Results (where available)

View Results


Published on BioPortfolio: 2019-09-27T06:30:39-0400

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A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not.

A study that uses observations at multiple time points before and after an intervention (the "interruption"), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time.

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