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LDLR / APOB / PCSK9 AD unreviewed

Familial hypercholesterolaemia

Lipoprotein Metabolism (Exogenous and Endogenous Pathways: chylomicrons, VLDL, LDL, HDL) LDL receptor (or apoB-100, PCSK9 gain-of-function)

Enzyme or protein defect

LDL receptor (or apoB-100, PCSK9 gain-of-function)

Accumulates or becomes deficient

LDL cholesterol

Key features

Tendon xanthomas, xanthelasma, corneal arcus, premature coronary disease

Management

High-intensity statin, ezetimibe, PCSK9 inhibitor

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · from cache · sorted by publication date

  1. 1
    Discontinuation of statins for primary prevention of atherosclerotic cardiovascular disease in adults aged 75 years or older (SAGA/SITE): a multicentre, open-label, pragmatic, non-inferiority randomised trial.

    Bonnet F, Poulizac P, Rousselot N, Couffinhal T, Galli G, Berdaï D, Vandenhende MA, Rousset M, Coueron R, Bén… · 2027-06-30

    unreviewed
  2. 2
    The Crimean-Congo haemorrhagic fever virus hijacks the liver lipid metabolic pathway for virion production.

    Gautam A, Zhong L, Ogire E, Bodoirat S, Riedmiller I, Sander WJ, Boson B, Gandhi A, Burlaud-Gaillard J, Amira… · 2026-03-30

    open access unreviewed
  3. 3
    The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.

    Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D. · 2026-01-04

    cited 4× open access unreviewed
  4. 4
    Lipoprotein(a) and premature myocardial infarction: Mechanistic insights and implications for PCI-era residual risk.

    Modani SM, Rampelly SK, Palagiri S, Begum Ibrahim S, Ramachandiran S. · 2026-06-02

    open access unreviewed
  5. 5
    Distribution of Lipoprotein(a) concentrations in children and young people with Familial Hypercholesterolemia (FH) compared to those without FH: A systematic review and narrative synthesis.

    Priestley-Barnham L, Humphries SE, Wray J, Khan T. · 2026-06-30

    unreviewed
  6. 6
    The utility of artificial intelligence for DNA variant curation in the Mendelian genetic disorder familial hypercholesterolaemia.

    Kaul D, Le H, Kwan E, Trent RJ. · 2026-05-27

    unreviewed
  7. 7
    Universal paediatric screening for familial hypercholesterolaemia: Lessons learnt from our pilot study EARLIE.

    Becker M, Bocquet V, Fandel F, Adamski A, Vaillant M, Wagner K, Droste DW, Hein S, Gies I, Mendon P, de Beauf… · 2026-07-14

    unreviewed
  8. 8
    Unveiling perceptions: a small-scale qualitative case study related to patient experience of inpatient screening for familial hypercholesterolemia.

    Stewart L, Rossiter R, Brownie S. · 2026-07-17

    unreviewed
  9. 9
    A Bayesian framework for longitudinal EHR and genetic discovery.

    Urbut SM, Ding Y, Nakao T, Koyama S, Misra A, Jiang X, Harish A, Gaffney L, Hornsby WE, Smoller JW, Gusev A, … · 2026-07-15

    cited 1× unreviewed
  10. 10
    Childhood screening for familial hypercholesterolaemia: all it takes is a finger prick.

    Blom DJ. · 2026-07-11

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.