Familial hypercholesterolaemia
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
Europe PMC · fetched just now · sorted by publication date
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1
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 -
2
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 10× open access unreviewed -
3
A coronary event without coronary artery disease: the hidden role of inherited thrombophilia-a case report.
Kuridze N, Sturua R, Tsaguria L. · 2026-09-19
open access unreviewed -
4
Tafolecimab mitigates ox-LDL-induced macrophage foam cell formation and inflammation by modulating SR-A/ABCG1 expression and inhibiting the NF-κB/MAPK pathways.
Yu X, Liu X, Dang Y, Liu R. · 2026-08-13
open access unreviewed -
5
Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public.
Quek DSR, Yin R, Chan FHF, Nastar A, Ngeow J, Pek S, Savulescu J, Subramaniam T, Griva K. · 2026-10-01
unreviewed -
6
Genomic Medicine Sweden: Advancing precision medicine at the national level.
Edsjö A, Lindstrand A, Baliakas P, Gisselsson D, Mölling P, Wadelius M, Johansson Å, Olauson H, Ehrencrona H,… · 2026-07-06
cited 2× open access unreviewed -
7
When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project.
Weller S, Lucassen A. · 2026-05-22
cited 1× open access unreviewed -
8
In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay.
Danilchenko VY, Ivanoshchuk DE, Timoshchenko OV, Panina EA, Orlov PS, Shakhtshneider EV. · 2026-09-01
open access unreviewed - 9
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10
Treat-to-target strategies for low-density lipoprotein cholesterol and triglyceride levels for primary and secondary prevention of cardiovascular disease in adults with dyslipidaemia.
Shokraee K, Franco JV, Taneri PE, Olfati S, Zorger AM, Escobar Liquitay CM, Skoetz N, Bongaerts B. · 2026-09-28
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.