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January 1, 2015The Application of Clinical GeneticsOpen Access

The genetics of familial hypercholesterolemia and emerging therapies

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Key result

Early FH treatment with statins and emerging therapies reduces cardiovascular events and premature death.

Population

Patients with familial hypercholesterolemia (heterozygous and homozygous)

Design

Review

Authors

AVAnja VogtKlinik und Poliklinik für Orthopädie, Physikalische Medizin und Rehabilitation

Discussion

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Implication

Supports early FH screening in practice; leaves open optimal sequencing of emerging therapies pending prospective trials.

Key Points

  • To review the genetic etiology of familial hypercholesterolemia and evaluate conventional alongside emerging lipid-lowering therapeutic strategies.
  • Narrative synthesis of the genetic mutations causing heterozygous and homozygous familial hypercholesterolemia.
  • Evaluation of existing treatment modalities, including statins, combination pharmacotherapy, and lipoprotein apheresis.
  • Assessment of emerging therapies targeting microsomal triglyceride transfer protein and apolipoprotein B.
  • Mutations in genes encoding the LDL receptor, apolipoprotein B, and PCSK9 drive severe LDL cholesterol elevation and premature cardiovascular disease, with homozygous individuals often affected before age 20.
  • While statins, combination therapies, and apheresis substantially reduce morbidity in heterozygous cases, an unmet treatment need persists for severe and homozygous forms.
  • Novel interventions such as microsomal triglyceride transfer protein inhibitors and apolipoprotein B antisense oligonucleotides provide crucial therapeutic pathways to lower cardiovascular risk in refractory patients.

Structured PICO

P
Population
Patients with familial hypercholesterolemia (heterozygous and homozygous)
I
Intervention
Lipid-lowering therapies including statins, lipoprotein apheresis, microsomal triglyceride transfer protein inhibitors, and apolipoprotein B antisense oligonucleotides
O
Outcome
Reduction of LDL cholesterol and prevention of premature cardiovascular disease and death

Early diagnosis and aggressive lipid-lowering treatment, including emerging therapies for severe cases, are essential to reduce premature cardiovascular events in patients with familial hypercholesterolemia.

Cite This Study

Anja Vogt (2015) conducted a review in Familial hypercholesterolemia. Lipid-lowering therapies was evaluated. Early diagnosis and treatment of familial hypercholesterolemia with statins and emerging therapies are important to reduce cardiovascular events and premature death.

synapsesocial.com/papers/6aa23aa76c8ac68e78d31313https://doi.org/10.2147/tacg.s44315
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society2014 · 1,079 citations
  2. 2Statins for children with familial hypercholesterolemia2017 · 265 citations
  3. 3Supravalvular and Valvular Aortic Stenosis in Heterozygous Familial Hypercholesterolemia2007 · 4 citations
  4. 4Phenotypic heterogeneity of sitosterolemia2004 · 93 citations
  5. 5Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society2013 · 2,794 citations