Hiperkolesterolemia Familiarrapatofisiologia, diagnostikoa eta tratamendua
- Galicia, Unai Garcia 1
- Amuategi, Jone 2
- Jebari, Shifa 2
- Larrea, Asier Sebal 2
- B. Uribe, Kepa 1
- Ostolaza, Helena 2
- Martin, Cesar 2
- Benito, Asier Vicente 2
- 1 Biofisika Institutoa
- 2 Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
ISSN: 2530-9412
Year of publication: 2020
Volume: 4
Issue: 1
Pages: 69-80
Type: Article
More publications in: Osagaiz: osasun-zientzien aldizkaria
Abstract
Cardiovascular disease (CVD) is the main cause of mortality worldwide, and is heavily related to diet and sedentary lifestyle. However, it can also be developed due to genetic factors. Familial Hypercholesterolemia (FH) is a common inherited autosomic disease mainly related to mutations in 3 different genes. FH is associated with high plasma LDL cholesterol (LDL-C) levels that increase the risk of suffering from CVD. This review aims to summarize the current knowledge on FH related genetic factors, disease diagnosis, treatment and the involvement of FH in the development of CVD.