Familial hypercholesterolemia: detect earlier to act earlier.
Familial hypercholesterolemia is an inherited condition that causes elevated LDL cholesterol levels from an early age. Early identification is key to reducing cumulative cholesterol exposure and addressing cardiovascular risk throughout life.
What is familial hypercholesterolemia?
Familial hypercholesterolemia (FH) is an inherited disorder that affects the body's ability to efficiently remove LDL cholesterol from the bloodstream.
As a result, people with FH have elevated LDL cholesterol levels from birth and are exposed to high cholesterol concentrations for many more years.
This prolonged exposure promotes the development of atherosclerosis and can increase the risk of premature cardiovascular disease if FH is not identified and appropriately treated.
Diagnosing one person can help an entire family
One of the defining characteristics of familial hypercholesterolemia is its inherited nature.
When one case is identified, screening first-degree relatives can help identify other family members who may also have FH but have not yet been diagnosed.
This approach, known as cascade screening, is a key strategy for promoting early diagnosis.
Beyond LDL cholesterol
LDL cholesterol is one of the main parameters used to assess and monitor cardiovascular risk.
However, the lipoproteins that transport lipids through the bloodstream are complex structures.
In addition to measuring how much cholesterol they carry, it is possible to analyse characteristics such as the number, size and distribution of lipoprotein particles.
This information can complement the conventional lipid profile and provide a more detailed characterisation of lipoprotein metabolism.
Liposcale®: advanced lipoprotein characterisation by NMR
Liposcale® uses nuclear magnetic resonance (NMR) spectroscopy to provide a more detailed characterisation of alterations in lipoprotein metabolism beyond the standard lipid profile.
Lipid content
Information on cholesterol and triglycerides carried by the different lipoprotein classes.
Particle number
Characterisation of VLDL, LDL and HDL particle concentrations.
Distribution
Information on the distribution of large, medium and small particles.
Particle size
Assessment of the mean size of the main lipoprotein classes.
Early diagnosis, follow-up and cardiovascular prevention
Familial hypercholesterolemia is present from birth, but early identification allows appropriate monitoring and treatment strategies to be initiated sooner under the guidance of healthcare professionals.
Diagnosis is based on clinical assessment, personal and family history, cholesterol concentrations and, when indicated, genetic testing.
Advanced lipoprotein characterisation can provide complementary information to deepen understanding of the lipid profile and cardiovascular risk assessment.
Raising awareness to diagnose earlier.
Knowing your cholesterol levels and family history can be the first step towards identifying a condition that many people are unaware they have.
Discover Liposcale®
Learn how advanced NMR-based lipoprotein characterisation can complement cardiovascular risk assessment.
Scientific references
- Mata P, Alonso R, Ruiz A, et al. Diagnóstico y tratamiento de la hipercolesterolemia familiar en España: documento de consenso. Atención Primaria. 2015;47(1):56–65. doi:10.1016/j.aprim.2013.12.015
- Masana L, Civeira F, Pedro-Botet J, et al. Consenso de expertos sobre la detección y el manejo clínico de la hipercolesterolemia familiar. Clínica e Investigación en Arteriosclerosis. 2013;25(4):182–193.
- Mallol R, Amigó N, Rodríguez MA, et al. Liposcale: a novel advanced lipoprotein test based on 2D diffusion-ordered 1H NMR spectroscopy. Journal of Lipid Research. 2015;56(3):737–746. doi:10.1194/jlr.D050120
- Pintó X, Masana L, Civeira F, et al. Consensus document of an expert group from the Spanish Society of Arteriosclerosis (SEA) on the clinical use of nuclear magnetic resonance to assess lipoprotein metabolism (Liposcale®). Clínica e Investigación en Arteriosclerosis. 2020;32(5):219–229.