EVKEEZA® (evinacumab) UK Prescribing and Adverse Event Reporting Information
The current estimated prevalence of HoFH is 1 in 300,000.4*
*Global data give a range based on frequency of 1 in 250,000 to 1 in 360,000.1
Adapted from Cuchel et al. 2023.
APOB, apolipoprotein B; HoFH, homozygous familial hypercholesterolaemia; LDL-C, low-density lipoprotein cholesterol; LDLR, low-density lipoprotein receptor; LDLRAP1, LDL receptor adaptor protein 1. PCSK9, proprotein convertase subtilisin/kexin type 9.
1. Cuchel M et al. Eur Heart J. 2023;00:1–15; 2. Raal FJ et al. Atherosclerosis. 2018;277:483–492; 3. McGowan MP et al. J Am Heart Assoc. 2019;8:e013225; 4. Tromp TR et al. The Lancet. 2022;399:719–728;
| Homozygous FH (HoFH) | Heterozygous FH (HeFH) |
|---|---|
| Mutated gene inherited from both parents | Mutated gene inherited from one parent |
| Occurs in 1 in 300,000 persons | Occurs in 1 in 250 persons |
| LDL-C >10 mmol/L (untreated) | LDL-C cholesterol ≥4.1 mmol/L in children LDL-C cholesterol ≥4.9 mmol/L in adults |
| Likely physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows, and/or between fingers and toes; these deposits are not always present | May have physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/or between fingers and toes |
| Treatment at time of diagnosis, no matter the age, with a specialist | Treatment as early as age 8 |
Adapted from Cuchel et al. 2023 and McGowan et al. 2019.
HeFH, heterozygous familial hypercholesterolaemia; HoFH, homozygous familial
hypercholesterolaemia; LDL-C, low-density lipoprotein cholesterol.
1. Cuchel M et al. Eur Heart J. 2023;00:1–15; 2. McGowan MP et al. J Am Heart Assoc. 2019;8:e013225; 3. Joshua K. et al. JAAD Reviews, 2025, Volume 4, 149–155
Pathogenic variants in genes impairing LDLR function have also been identified in patients with HoFH:3,4
Adapted from Cuchel et al. 2023.
<10% of LDLR variants have been directly studied functionally4
These pathogenic variants affect different aspects of LDLR function and can be broadly categorised into six classes:3
Adapted from Gidding et al. Circulation 2015.
Pathogenic variants cause LDLR dysfunction and reduce removal of LDL-C from the blood, leading to premature atherosclerosis and cardiovascular complications1,3-5
This figure applies to FH in general.
*Such as premature stop codons, frameshifts, splice site changes, small and large insertions/deletions, and copy number variations
Compared with patients who are double LDLR-defective and LDLR-defective + LDLR-deficient, patients who are double LDLR-deficient (null–null) present with:3,9-11
The majority of LDL-C is cleared from the plasma by LDLR located on the cellular membranes of the liver2
Adapted from Alonso et al., 2016.
*The SAFEHEART registry is a nationwide registry that includes FH patients living in Spain. Patients are enrolled and followed up every year to record relevant changes in lipid-lowering treatment and development of cardiovascular events. The graph shows survival data from 34 HoFH patients enrolled from 2004 to 2015.
APOB, apolipoprotein B; Chr, chromosome; CVD, cardiovascular disease; FH, familial hypercholesterolaemia; HeFH, heterozygous familial hypercholesterolaemia; HoFH, homozygous familial hypercholesterolaemia; LDLR, low-density lipoprotein receptor; LDLRAP1, LDL receptor adaptor protein 1; MI; LDL-C, low-density lipoprotein cholesterol; PCSK9, proprotein convertase subtilisin/kexin type 9; PVD, peripheral vascular disease.
1. France M et al. Atherosclerosis. 2016;255:128–139; 2. Cuchel M et al. Eur Heart J. 2014;35:2146–2157; 3. Gidding SS et al. Circulation. 2015;132:2167–2192; 4. Cuchel M et al. Eur Heart J. 2023;00:1–15; 5. Nordestgaard BG et al. Eur Heart J. 2013;34:3478–3490; 6. Reijman MD et al. Curr Opin Lipidol. 2023 Dec 1;34(6):287-295; 7. Bertolini S et al. Atherosclerosis. 2020;312:72–78; 8. Raal FJ et al. T. JACC Adv. 2023;2(9):100648; 9. Bruckert E. Atheroscler Suppl. 2014;15:26–32; 10. Alonso R et al. J Clin Lipidol. 2016;10:953–961; 11. Sjouke B et al. Eur Heart J. 2015;36:560–565.
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