We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
INTEGRA BIOSCIENCES AG

Download Mobile App




New Gene Associated With Familial High Cholesterol

By LabMedica International staff writers
Posted on 26 May 2016
Print article
Image: Clinical manifestation of Homozygous Familial Hypercholesterolemia, interdigital xanthoma (Photo courtesy of the National Organization for Rare Disorders).
Image: Clinical manifestation of Homozygous Familial Hypercholesterolemia, interdigital xanthoma (Photo courtesy of the National Organization for Rare Disorders).
The gene that explains one quarter of all familial hypercholesterolemia with very high blood cholesterol has been revealed. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people.

The reason why lipoprotein(a) concentrations are raised in individuals with clinical familial hypercholesterolemia is unclear. The hypotheses that high lipoprotein(a) cholesterol and LPA risk genotypes are a possible cause of clinical familial hypercholesterolemia, and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolemia have the highest risk of myocardial infarction.

Scientists at the Copenhagen University Hospital (Herlev, Denmark) carried out a prospective cohort study that included data from 46,200 individuals from the Copenhagen General Population Study who had lipoprotein(a) measurements and were genotyped for common familial hypercholesterolemia mutations. Individuals receiving cholesterol-lowering drugs had their concentrations of Low-density lipoprotein (LDL) and total cholesterol multiplied by 1·43, corresponding to an estimated 30% reduction in LDL cholesterol from the treatment. In lipoprotein(a) cholesterol-adjusted analyses, total cholesterol and LDL cholesterol were adjusted for the lipoprotein(a) cholesterol content by subtracting 30% of the individuals' lipoprotein(a) total mass before total and LDL cholesterol were used for diagnosis of clinical familial hypercholesterolemia.

The team used unadjusted LDL cholesterol, mean lipoprotein(a) concentrations were 23 mg/dL in individuals unlikely to have familial hypercholesterolemia, 32 mg/dL in those with possible familial hypercholesterolemia, and 35 mg/dL in those with probable or definite familial hypercholesterolemia. When adjusting LDL cholesterol for lipoprotein(a) cholesterol content the corresponding values were 24 mg/dL for individuals unlikely to have familial hypercholesterolemia, 22 mg/dL for those with possible familial hypercholesterolemia, and 21 mg/dL for those with probable or definite familial hypercholesterolemia. High lipoprotein(a) cholesterol accounted for a quarter of all individuals diagnosed with clinical familial hypercholesterolemia and LPA risk genotypes were more frequent in clinical familial hypercholesterolemia, whereas lipoprotein(a) concentrations were similar in those with and without familial hypercholesterolemia mutations.

Borge G. Nordestgaard, MD, a professor and the senior author of the study, said, “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. 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.” The study was published on May 12, 2016, in the journal The Lancet Diabetes & Endocrinology.

Related Links:
Copenhagen University Hospital

New
Gold Member
Pneumocystis Jirovecii Detection Kit
Pneumocystis Jirovecii Real Time RT-PCR Kit
Automated Blood Typing System
IH-500 NEXT
New
Quantitative Immunoassay Analyzer
AS050
New
Thyroid ELISA Kit
AESKULISA a-TPO

Print article

Channels

Molecular Diagnostics

view channel
Image: Heart attacks could be ruled out early with a new test, according to researchers (Photo courtesy of Mindray)

New High-Sensitivity Cardiac Troponin Test Quickly Rules Out Heart Attack

Patients arriving at an emergency department with symptoms like chest or arm pain, indicative of a potential heart attack, often prefer the comfort of home over a hospital bed—especially if they can be... Read more

Hematology

view channel
Image: QScout CBC will give a complete blood count in 2 minutes from fingerstick or venous blood (Photo courtesy of Ad Astra Diagnostics)

Next Gen CBC and Sepsis Diagnostic System Targets Faster, Earlier, Easier Results

Every hour is critical in protecting patients from infections, yet there are currently limited tools to assist in early diagnosis before patients reach a hospital. The complete blood count (CBC) is a common... Read more

Immunology

view channel
Image: An immune response is initiated when an antigen-presenting cell (pink) presents foreign material to a T-cell (blue) (Photo courtesy of JAX)

Advanced Imaging Method Maps Immune Cell Connections to Predict Cancer Patients Survival

A growing tumor is influenced not only by the tumor cells themselves but also by the surrounding tissue, which alters its biology. Immune cells communicate by transferring vital signaling proteins to their... Read more

Microbiology

view channel
Image: The InfectoSynovia test has the potential to revolutionize the diagnosis of periprosthetic joint infection (Photo courtesy of 123RF)

High-Accuracy Bedside Test to Diagnose Periprosthetic Joint Infection in Five Minutes

Periprosthetic joint infection (PJI) represents a significant global issue that is worsening as the number of joint replacements increases due to aging populations. In the United States alone, the anticipated... Read more

Pathology

view channel
Image: LMU’s Professor Frederick Klauschen developed the novel approach that can improve diagnostic accuracy (Photo courtesy of LMU Munich)

AI Tool Uses Imaging Data to Detect Less Frequent GI Diseases

Artificial intelligence (AI) is already being utilized in various medical fields, demonstrating significant potential in aiding doctors in diagnosing diseases through imaging data. However, training AI... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.