ReviewDeutsches Arzteblatt international2014
Familial hypercholesterolemia: developments in diagnosis and treatment.
Review in Deutsches Arzteblatt international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Important Aspects.Deutsches Arzteblatt international · 2026Article
- Cardiac deaths with structural heart abnormalities in the young (0-49 years): a ten-year forensic autopsy review.Forensic science, medicine, and pathology · 2026Article
- Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.Deutsches Arzteblatt international · 2025Observational
- Lipid-Lowering Efficiency and Safety of Alirocumab 300 mg Using a 2-mL Autoinjector Device in Real-World Practice: The MARS Study.Drugs - real world outcomes · 2025Article
- Current Research on the Influence of Statin Treatment on Rotator Cuff Healing.Clinics in orthopedic surgery · 2023Review
- [Laboratory diagnostics of lipid metabolism disorders].Deutsche medizinische Wochenschrift (1946) · 2023Article
- [Primary disorders of lipid metabolism: their place in current dyslipidemia guidelines and treatment innovations].Innere Medizin (Heidelberg, Germany) · 2023Review
- The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.Atherosclerosis plus · 2023Review
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.European journal of public health · 2022Article
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.Scientific reports · 2021Article
- Intensified lipid-lowering treatment with alirocumab in patients with coronary heart disease.Open heart · 2021Article
- Article
- Developing implementation strategies to improve uptake of guideline-recommended treatments for individuals with familial hypercholesterolemia: A protocol.Research in social & administrative pharmacy : RSAP · 2020Article
- Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.Frontiers in genetics · 2020Review
- PEARL: A Non-interventional Study of Real-World Alirocumab Use in German Clinical Practice.Drugs - real world outcomes · 2019Article
- Treatment Preferences in Germany Differ Among Apheresis Patients with Severe Hypercholesterolemia.PharmacoEconomics · 2018Article
- Tendon Pathology in Hypercholesterolemia and Familial Hypercholesterolemia.Current rheumatology reports · 2017Review
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4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is a congenital disorder of lipid metabolism characterized by a marked elevation of the plasma concentration of LDL (low-density lipoprotein) cholesterol beginning in childhood and by the early onset of coronary heart disease. It is among the commonest genetic disorders, with an estimated prevalence in Germany of at least 1 per 500 persons.
methodReview of pertinent literature retrieved by a selective search.
resultsFH is underdiagnosed and undertreated in Germany. It is clinically diagnosed on the basis of an elevated LDL cholesterol concentration (>190 mg/dL [4.9 mmol/L]), a family history of hypercholesterolemia, and early coronary heart disease, or the demonstration of xanthomas. The gold standard of diagnosis is the identification of the underlying genetic defect, which is possible in 80% of cases and enables the identification of affected relatives of the index patient. The recommended goals of treatment, based on the results of observational studies, are to lower the LDL cholesterol concentration by at least 50% or to less than 100 mg/dL (2.6 mmol/L) (for children: <135 mg/dL [3.5 mmol/L]). The target value is lower for patients with clinically overt atherosclerosis (<70 mg/dL [1.8 mmol/L]). Statins, combined with a health-promoting lifestyle, are the treatment of choice. Lipoprotein apheresis is used in very severe cases; its therapeutic effects on clinical endpoints and its side effect profile have not yet been documented in randomized controlled trials.
conclusionFamilial hypercholesterolemia is a common disease that can be diagnosed simply and reliably on clinical grounds and by molecular genetic testing. Timely diagnosis and appropriate treatment can lower the risk of atherosclerosis in heterozygous patients to that of the general population.
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