Clínic takes part in the largest study describing the involvement of cardiovascular diseases in familial hypercholesterolemia

The journal Arteriosclerosis, Thrombosis and Vascular Biology ( ATVB ) has published the largest study describing the prevalence of premature Atherosclerosis and Cardiovascular Diseases (ASCVD ) in patients with Familial Hypercholesterolemia (FH) . Hospital Clínic is the largest contributor to this work with the participation of Dr. Daniel Zambón Rados, principal investigator in the Study SAFEHEART in Hospital Clínic and consultant of Lipids Unit of the Endocrinology and NutritionDepartment.

The research has been carried out through the group of patients who form the SAFEHEART registration, a project of Familial Hypercholesterolemia Foundation , and it shows that the prevalence of ASCVD in patients with HF is 13.0 %, three more times than in unaffected relatives . In addition, it is the only study where relatives who do not have HF are used as control population in order to be compared with those who are affected .

The authors of the research indicate that “this is the largest study of a molecularly characterized heterozygous FH population that describe the development of atherosclerotic lesions in the heart, brain, and peripheral arteries”. According Dr. Zambón, it remains to be studied  “why there is such a great involvement at the peripheral and coronary level of patients with HF , while brain level there are no significant differences”.

[caption id="attachment_22134" align="alignleft" width="432"] Relative distribution of cardiovascular territories clinically involved in FH patients and their unaffected relatives[/caption]

HF is a common hereditary disease (estimated to suffer1 in400 people) that carries increased cholesterol in plasma concentrations. As people with HF are at increased risk of premature cardiovascular diseases, its diagnosis is a priority because it provides preventive therapeutic measures. The study analyzed 4,132 patients with heterozygous FH, that is, the one that has been inherited from one parent. From these patients, it has been able to show that while coronary or peripheral artery disease was more prevalent in patients with HF than in the control population, no significant differences were found regarding stroke.

Thus, patients with HF have a higher prevalence of ASCVD, but the involvement on the arterial territories is unequal. It has also been described that age, male gender, an index of increased body mass and other cardiovascular risk factors such as smoking are independently associated with ASCVD, not forgetting the level of LDL cholesterol as a determining factor for its development.

The SAFEHEART project is a prospective long-term study that tracks a group of people genetically diagnosed with FH and it is carried out in 25 hospitals throughout Spainsince 2004. Thanks to this record, it has been possible to move forward with this study and many others, as the one published in The Journal of the American College of Cardiology, with which it is revealed that current treatments most people with FH are not controlled in an appropriate way. 

Referència de l'article:

Coronary Heart Disease, Peripherial Arterial Disease and Stroke in Familial Hypercholesterolaemia. Insights form the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study)

Leopoldo Pérez de Isla, Rodrigo Alonso, Nelva Mata, Adriana Saltijeral, Ovidio Muñiz, Patricia Rubio-Marin, José L. Diaz-Diaz, Francisco Fuentes, Raimundo de Andrés, Daniel Zambón, Jesús Galiana, Mar Piedecausa, Rocio Aguado, Daniel Mosquera, José I Vidal, Enrique Ruiz, Laura Manjón, Marta Mauri, Teresa Padró, José P. Miramontes, Pedro Mata; for the SAFEHEART Investigators.

Arterioscler Thromb Vasc Biol. 2016 Sep;36(9):2004-10. doi: 10.1161 / ATVBAHA.116.307514.