Familial Hypercholesterolemia: physiopathology, diagnosis and treatment

Authors

  • Unai Garcia Galicia Biofisika Institutoa
  • Jone Amuategi Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
  • Shifa Jebari Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
  • Asier Sebal Larrea Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
  • Kepa B. Uribe Biofisika Institutoa
  • Helena Ostolaza Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
  • Cesar Martin Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)
  • Asier Vicente Benito Biofisika Institutoa, Biokimika eta Biologia Molekularra Saila (UPV/EHU)

DOI:

https://doi.org/10.26876/osagaiz.1.2020.299

Keywords:

Familial Hypercholesterolemia, PCSK9, LDLR, APOB100, statins, CVD

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.


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Published

2020-06-24

How to Cite

Galicia, U. G., Amuategi, J., Jebari, S., Larrea, A. S., B. Uribe, K., Ostolaza, H., Martin, C., & Benito, A. V. (2020). Familial Hypercholesterolemia: physiopathology, diagnosis and treatment. Osagaiz: Osasun-Zientzien Aldizkaria, 4(1). https://doi.org/10.26876/osagaiz.1.2020.299

Issue

Vol. 4 No. 1 (2020)

Section

Artikuluak