Evidence map›Paper›PMID 27261867›Full record

ReviewMayo Clinic proceedings2016

My Approach to the Patient With Familial Hypercholesterolemia.

Maya S Safarova, Iftikhar J Kullo

Open access · bronzeAbstract readCase ReportsReview
In one paragraph

Review in Mayo Clinic proceedings, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
4.1field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Pooled it
  2. Clinical and genetic characterization of homozygousEuropean heart journal. Case reports · 2026
    Article
  3. Review
  4. Review
  5. Advances in targeting LDL cholesterol: PCSK9 inhibitors and beyond.American journal of preventive cardiology · 2024
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  13. Review
  14. Article
  15. Familial hypercholesterolemia in Southeast and East Asia.American journal of preventive cardiology · 2021
    Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. Use of Twitter to Promote Awareness of Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Maya S SafarovaDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester MN.
Iftikhar J KulloDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester MN. Electronic address: Kullo.Iftikhar@mayo.edu.
Mayo Clinic in Arizona · US

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
EMR Phenotypes and Community Engaged Genomic AssociationsU01HG004599 · NHGRI · MAYO CLINIC ROCHESTER · PI CHUTE, CHRISTOPHER G · 2007 to 2010
$3.7M
NHGRI NIH HHS U01 HG004599NHGRI NIH HHS U01 HG006379
6 · The paper itself

Abstract

Familial hypercholesterolemia (FH), a relatively common Mendelian genetic disorder, is associated with a dramatically increased lifetime risk of premature atherosclerotic cardiovascular disease due to elevated plasma low-density lipoprotein cholesterol (LDL-C) levels. The diagnosis of FH is based on clinical presentation or genetic testing. Early identification of patients with FH is of great public health importance because preventive strategies can lower the absolute lifetime cardiovascular risk and screening can detect affected relatives. However, low awareness, detection, and control of FH pose hurdles in the prevention of FH-related cardiovascular events. Of the estimated 0.65 million to 1 million patients with FH in the United States, less than 10% carry a diagnosis of FH. Based on registry data, a substantial proportion of patients with FH are receiving no or inadequate lipid-lowering therapy. Statins remain the mainstay of treatment for patients with FH. Lipoprotein apheresis and newly approved lipid-lowering drugs are valuable adjuncts to statin therapy, particularly when the LDL-C-lowering response is suboptimal. Monoclonal antibodies targeting proprotein convertase subtilisin/kexin type 9 provide an additional approximately 60% lowering of LDL-C levels and are approved for use in patients with FH. For homozygous FH, 2 new drugs that work independent of the LDL receptor pathway are available: an apolipoprotein B antisense oligonucleotide (mipomersen) and a microsomal triglyceride transfer protein inhibitor (lomitapide). This review attempts to critically examine the available data to provide a summary of the current evidence for managing patients with FH, including screening, diagnosis, treatment, and surveillance.

Indexed as

Family HealthGenetic Predisposition to DiseaseHyperlipoproteinemia Type IIAdolescentAdultAge of OnsetCardiovascular DiseasesChildCholesterol, HDLEarly DiagnosisFemaleGenetic TestingHumansHydroxymethylglutaryl-CoA Reductase InhibitorsLiver TransplantationMaleCholesterol, HDLHydroxymethylglutaryl-CoA Reductase InhibitorsTriglycerides

Identifiers

PMID27261867
PMCPMC5374743
OpenAlexW2411760145

What OpenQuestion holds

Texttitle and abstract
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.