New gene for familial high cholesterol

cholesterol
Space-filling model of the Cholesterol molecule. Credit: RedAndr/Wikipedia

New research from Denmark reveals the gene that explains one quarter of all familial hypercholesterolemia with very high blood cholesterol. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people.

A research group lead by Clinical Professor Borge G. Nordestgaard has found that cholesterol-containing lipoprotein(a) is the cause of one quarter of all diagnoses of familial hypercholesterolemia. High levels of this genetically determined lipoprotein in the blood is already known to cause heart attacks.

"Among 46,200 individuals in the , individuals with a of familial hypercholesterolemia have higher levels of lipoprotein(a) in their blood than individuals without the diagnosis," says principal investigator Dr. Anne Langsted, Herlev Hospital, Copenhagen University Hospital, Denmark.

The research has just been published in The Lancet Diabetes & Endocrinology.

High risk of heart attack

The study also reveals that high levels of lipoprotein(a) in the adds to the already very high risk of suffering a for people with familial hypercholesterolemia."We find that individuals with familial hypercholesterolemia and high levels of lipoprotein(a) are five times more likely to suffer a heart attack than individuals without these two conditions," adds Anne Langsted.

"Our results suggest that all individuals with familial hypercholesterolemia should have their lipoprotein(a) concentrations measured in order to identify those with the highest concentrations and therefore also the highest risk of suffering a heart attack," says senior author Borge G. Nordestgaard, University of Copenhagen and Copenhagen University Hospital.

"Worldwide, familial hypercholesterolemia as well as high lipoprotein(a) levels are grossly underdiagnosed and undertreated. Our findings will help identify the individuals with the highest risk of suffering a heart attack and hopefully facilitate better preventive treatment for these extremely high risk individuals," adds Nordestgaard.

The diagnosis of familial hypercholesterolemia is based on different clinical signs such as elevated cholesterol, relatives with early heart attack and a personal history of heart attack. Genetic testing can also confirm the diagnosis.


Explore further

Single-gene mutations account for only 2 percent of cases of severely elevated cholesterol

Citation: New gene for familial high cholesterol (2016, May 12) retrieved 11 December 2019 from https://medicalxpress.com/news/2016-05-gene-familial-high-cholesterol.html
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.
76 shares

Feedback to editors

User comments