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Related Concept Videos

Protein Families02:47

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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...
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Gene Families01:57

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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.
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Once a ligand binds to a receptor, the signal is transmitted through the membrane and into the cytoplasm. The continuation of a signal in this manner is called signal transduction. Signal transduction only occurs with cell-surface receptors, which cannot interact with most components of the cell, such as DNA. Only internal receptors can interact directly with DNA in the nucleus to initiate protein synthesis. When a ligand binds to its receptor, conformational changes occur that affect the...
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Cholesterol-lowering therapy from childhood/adolescence and long-term outcomes in familial hypercholesterolaemia: the SAFEHEART study.

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Related Experiment Video

Updated: Feb 13, 2026

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

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Cascade screening program for familial hypercholesterolemia.

Patricia Rubio-Marín1, Alfredo Michán-Doña1, Juan Maraver-Delgado1

  • 1U.G.C de Medicina Interna, Hospital SAS de Jerez de la Frontera, Jerez de la Frontera, Cádiz, España.

Endocrinologia, Diabetes Y Nutricion
|March 11, 2018
PubMed
Summary
This summary is machine-generated.

Early detection of familial hypercholesterolemia (FH) through cascade screening identifies affected relatives sooner. This approach helps prevent cardiovascular events by diagnosing FH an average of 11.4 years earlier.

Keywords:
AterosclerosisAtherosclerosisCardiovascular diseaseCascade screeningCribado en cascadaDetección genéticaEnfermedad cardiovascularFamilial hypercholesterolemiaGenetic testingHipercolesterolemia familiar

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Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is an inherited condition increasing cardiovascular risk.
  • Early detection of heterozygous familial hypercholesterolemia (HFH) is crucial for preventing premature cardiovascular events.
  • Screening programs are essential for identifying individuals with HFH.

Purpose of the Study:

  • To describe the implementation of an HFH screening day in the Northern Cadiz Health Area, Spain.
  • To analyze data collected during the HFH screening event.
  • To evaluate the effectiveness of cascade screening for HFH.

Main Methods:

  • A descriptive study of an FH cascade screening program was conducted.
  • Index cases (ICs) and their first and second-degree relatives were invited for screening.
  • Data collection included genetic testing, blood tests, medical consultations, and physical examinations.

Main Results:

  • 132 subjects participated, including 21 ICs and 111 relatives.
  • Genetic mutations were identified in 90 relatives.
  • Diagnosis occurred significantly earlier in relatives (mean age 25 years) compared to ICs (mean age 36.4 years).
  • Higher smoking rates were observed in relatives, while corneal arcus was more prevalent in ICs.
  • Prior myocardial infarction was noted in 14.3% of ICs and 4.2% of relatives.

Conclusions:

  • The screening approach successfully identified an estimated 4% of the population with HFH in the region.
  • Cascade screening facilitates earlier diagnosis of HFH, on average 11.4 years sooner.
  • This strategy aids in the timely management of FH to mitigate cardiovascular risks.