Related Experiment Video

Updated: Feb 3, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.5K

Atherosclerotic cardiovascular disease risk assessment in familial hypercholesterolemia: does one size fit all?

Pedro Mata1, Rodrigo Alonso1,2, Leopoldo Pérez de Isla1,3

  • 1Fundación Hipercolesterolemia Familiar, Madrid, Spain.

Current Opinion in Lipidology
|November 2, 2018
PubMed

Insights

Familial hypercholesterolemia patients need better risk assessment for atherosclerotic cardiovascular disease (ASCVD). The SAFEHEART risk equation and coronary imaging improve prediction, guiding new lipid-lowering therapies.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Medical Imaging

Background:

  • Familial hypercholesterolemia (FH) is a common genetic disorder causing high LDL-cholesterol and early atherosclerotic cardiovascular disease (ASCVD).
  • Statins are standard treatment, but novel therapies necessitate improved identification of high-residual-risk FH patients.
  • Accurate cardiovascular risk stratification is crucial for optimizing ASCVD prevention in FH.

Purpose of the Study:

  • To review recent literature on cardiovascular risk stratification in FH.
  • To highlight the role of coronary imaging in assessing ASCVD risk.
  • To update on tools for predicting ASCVD in familial hypercholesterolemia.

Main Methods:

  • Review of recent scientific literature on FH and ASCVD risk.
  • Evaluation of clinical scores, coronary imaging (coronary-CTA), and biomarkers for risk prediction.
  • Focus on the SAFEHEART risk-equation (SAFEHEART-RE) for ASCVD risk assessment.

Main Results:

  • Clinical scores, coronary imaging, and novel biomarkers are independent predictors of ASCVD in FH.
  • The SAFEHEART-RE offers a more accurate prediction of ASCVD in familial hypercholesterolemia.
  • Coronary computed-tomographic angiography (coronary-CTA) findings correlate with SAFEHEART-RE risk estimates.

Conclusions:

  • The SAFEHEART-RE is a simple, applicable tool for predicting ASCVD in FH patients.
  • Coronary-CTA provides valuable information on atherosclerosis burden in FH.
  • Integrating SAFEHEART-RE, coronary-CTA, and biomarkers can enhance ASCVD risk stratification and optimize lipid-lowering therapy use in FH.
Abstract

More Related Videos

Fundus Photography as a Convenient Tool to Study Microvascular Responses to Cardiovascular Disease Risk Factors in Epidemiological Studies10:11

Fundus Photography as a Convenient Tool to Study Microvascular Responses to Cardiovascular Disease Risk Factors in Epidemiological Studies

Published on: October 22, 2014

19.7K
In Silico Clinical Trials for Cardiovascular Disease09:09

In Silico Clinical Trials for Cardiovascular Disease

Published on: May 27, 2022

2.3K

Related Concept Videos

Psychoneuroimmunology: Cardiovascular Disease01:27

Psychoneuroimmunology: Cardiovascular Disease

Psychoneuroimmunology (PNI) is a multidisciplinary field that examines how psychological factors, particularly stress, interact with the immune system and impact physical health. Research in PNI has shown that chronic or traumatic stress can disrupt both the hypothalamic-pituitary-adrenal axis and the sympathetic nervous system. These disruptions contribute to serious health conditions, including cardiovascular diseases.
A key area of focus in PNI is the relationship between stress and coronary...
573
Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.9K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.9K
Gene Families01:57

Gene Families

3.8K
Assessment of the Cardiovascular System II: Inspection01:29

Assessment of the Cardiovascular System II: Inspection

Inspection is the initial step in assessing the cardiovascular system. It involves a detailed visual examination that provides crucial information about a patient's circulatory and cardiac health. This systematic process, conducted from head to toe, helps identify signs of cardiovascular conditions by observing physical appearance, skin and mucous membranes, jugular and carotid pulsations, chest symmetry, and the condition of the extremities.
Head and Neck
853
Assessment of the Cardiovascular System IV: Auscultation01:25

Assessment of the Cardiovascular System IV: Auscultation

Cardiac auscultation is a clinical skill used to assess heart function and detect abnormalities. It involves listening to heart sounds at specific anatomical locations through a stethoscope.
Normal Heart Sounds
S1 (First Heart Sound)-
S1 is made by the closure of the mitral and tricuspid valves (atrioventricular valves), marking the beginning of systole.
S2 (Second Heart Sound)-
S2 is made by the closure of the aortic and pulmonic valves (semilunar valves), marking the end of the systole.
1.9K