Research & Literature

Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia.

Lefort B, Saheb S, Bruckert E, et al.

Atherosclerosis 2015; (239(1)):158-62.

The genetics of familial hypercholesterolemia and emerging therapies.

Vogt A

The application of clinical genetics 2015; (8()):27-36 doi:10.2147/TACG.S44315.

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

Wiegman A, Gidding SS, Watts GF, et al.

European heart journal 2015; (36(36)):2425-37 doi:10.1093/eurheartj/ehv157.

Treating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide.

Roeters van Lennep J, Averna M, Alonso R

Journal of clinical lipidology 2015; (9(4)):607-17.

Familial hypercholesterolemia in children and adolescents: A clinical perspective.

de Ferranti SD

Journal of clinical lipidology 2015; (9(5 Suppl)):S11-9.

Universal cholesterol screening of children in community-based ambulatory pediatric clinics.

Wilson DP, Davis S, Matches S, et al.

Journal of clinical lipidology 2015; (9(5 Suppl)):S88-92.

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Fernández-Higuero JA, Etxebarria A, Benito-Vicente A, et al.

Scientific reports 2015; (5()):18184 doi:10.1038/srep18184.

Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.

Turgeon RD, Barry AR, Pearson GJ

Canadian family physician Medecin de famille canadien 2016; (62(1)):32-7.

Management of Hypercholesterolemia, Appropriateness of Therapeutic Approaches and New Drugs in Patients with High Cardiovascular Risk.

Agabiti Rosei E, Salvetti M

High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension 2016; (23(3)):217-30 doi:10.1007/s40292-016-0155-2.

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM, Civeira F, Stef M, et al.

Circulation. Cardiovascular genetics 2016; (9(6)):504-510 doi:10.1161/CIRCGENETICS.116.001545.

Old challenges and new opportunities in the clinical management of heterozygous familial hypercholesterolemia (HeFH): The promises of PCSK9 inhibitors.

Arca M

Atherosclerosis 2017; (256()):134-145 doi:10.1016/j.atherosclerosis.2016.09.001.

Molecular basis of familial hypercholesterolemia.

Bruikman CS, Hovingh GK, Kastelein JJP

Current opinion in cardiology 2017; (32(3)):262-266 doi:10.1097/HCO.0000000000000385.

Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study).

Pérez de Isla L, Alonso R, Mata N, et al.

Circulation 2017; (135(22)):2133-2144 doi:10.1161/CIRCULATIONAHA.116.024541.

Statins for children with familial hypercholesterolemia.

Vuorio A, Kuoppala J, Kovanen PT, et al.

The Cochrane database of systematic reviews 2017; (7()):CD006401 doi:10.1002/14651858.CD006401.pub4.

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl.

Ekici F, Özçobanoğlu S, Kardelen F

Balkan medical journal 2018; (35(2)):208-211 doi:10.4274/balkanmedj.2017.0490.

Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families.

Wu X, Pang J, Wang X, et al.

Clinical cardiology 2017; (40(11)):1169-1173 doi:10.1002/clc.22809.

Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.

Ma Y, Gong Y, Garg A, Zhou H

Journal of clinical lipidology 2018; (12(1)):230-235.e6 doi:10.1016/j.jacl.2017.10.005.

Aortic Root Calcification Score as an Independent Factor for Predicting Major Adverse Cardiac Events in Familial Hypercholesterolemia.

Okada H, Tada H, Hayashi K, et al.

Journal of atherosclerosis and thrombosis 2018; (25(7)):634-642 doi:10.5551/jat.42705.

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).

Kayikcioglu M, Tokgozoglu L, Yilmaz M, et al.

Atherosclerosis 2018; (270()):42-48 doi:10.1016/j.atherosclerosis.2018.01.034.

Guidance for Pediatric Familial Hypercholesterolemia 2017.

Harada-Shiba M, Ohta T, Ohtake A, et al.

Journal of atherosclerosis and thrombosis 2018; (25(6)):539-553 doi:10.5551/jat.CR002.

Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.

Klaus G, Taylan C, Büscher R, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(7)):1199-1208 doi:10.1007/s00467-018-3906-6.

Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study.

Pérez de Isla L, Alonso R, Muñiz-Grijalvo O, et al.

Journal of clinical lipidology 2018; (12(4)):948-957 doi:10.1016/j.jacl.2018.04.003.

Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.

Harada-Shiba M, Arai H, Ishigaki Y, et al.

Journal of atherosclerosis and thrombosis 2018; (25(8)):751-770 doi:10.5551/jat.CR003.

Dietary Intake during 56 Weeks of a Low-Fat Diet for Lomitapide Treatment in Japanese Patients with Homozygous Familial Hypercholesterolemia.

Kameyama N, Maruyama C, Kitagawa F, et al.

Journal of atherosclerosis and thrombosis 2019; (26(1)):72-83 doi:10.5551/jat.44107.

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, et al.

Journal of the American College of Cardiology 2018; (72(6)):662-680 doi:10.1016/j.jacc.2018.05.044.

Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part.

Brett T, Qureshi N, Gidding S, Watts GF

Atherosclerosis 2018; (277()):399-406 doi:10.1016/j.atherosclerosis.2018.08.019.

Familial hypercholesterolemia treatments: Guidelines and new therapies.

Raal FJ, Hovingh GK, Catapano AL

Atherosclerosis 2018; (277()):483-492 doi:10.1016/j.atherosclerosis.2018.06.859.

Coronary Artery Calcium and Cardiovascular Events in Patients With Familial Hypercholesterolemia Receiving Standard Lipid-Lowering Therapy.

Miname MH, Bittencourt MS, Moraes SR, et al.

JACC. Cardiovascular imaging 2019; (12(9)):1797-1804 doi:10.1016/j.jcmg.2018.09.019.

The efficacy of double filtration plasmapheresis in the treatment of homozygous familial hypercholesterolemia: A single-center experience.

Albayrak M, Yıldız A, Ateş N, Pala Ç

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019; (58(1)):61-64 doi:10.1016/j.transci.2018.11.007.

Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review.

Luirink IK, Determeijer J, Hutten BA, et al.

Journal of clinical lipidology 2019; (13(1)):31-39 doi:10.1016/j.jacl.2018.10.011.

Lipoprotein(a) as a risk factor for calcific aortic valvulopathy in heterozygous familial hypercholesterolemia.

Vuorio A, Watts GF, Kovanen PT

Atherosclerosis 2019; (281()):25-30 doi:10.1016/j.atherosclerosis.2018.11.040.

The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.

Luirink IK, Braamskamp MJAM, Wiegman A, et al.

Journal of clinical lipidology 2019; (13(2)):272-278 doi:10.1016/j.jacl.2018.12.003.

Value of Measuring Lipoprotein(a) During Cascade Testing for Familial Hypercholesterolemia.

Ellis KL, Pérez de Isla L, Alonso R, et al.

Journal of the American College of Cardiology 2019; (73(9)):1029-1039 doi:10.1016/j.jacc.2018.12.037.

Familial Hypercholesterolemia and Lipoprotein Apheresis.

Makino H, Koezuka R, Tamanaha T, et al.

Journal of atherosclerosis and thrombosis 2019; (26(8)):679-687 doi:10.5551/jat.RV17033.

Lomitapide: a review of its clinical use, efficacy, and tolerability.

Alonso R, Cuevas A, Mata P

Core evidence 2019; (14()):19-30 doi:10.2147/CE.S174169.

Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.

Trinder M, Li X, DeCastro ML, et al.

Journal of the American College of Cardiology 2019; (74(4)):512-522 doi:10.1016/j.jacc.2019.05.043.

Association of Low-Density Lipoprotein Cholesterol With Risk of Aortic Valve Stenosis in Familial Hypercholesterolemia.

Mundal LJ, Hovland A, Igland J, et al.

JAMA cardiology 2019; (4(11)):1156-1159 doi:10.1001/jamacardio.2019.3903.

20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia.

Luirink IK, Wiegman A, Kusters DM, et al.

The New England journal of medicine 2019; (381(16)):1547-1556 doi:10.1056/NEJMoa1816454.

Lomitapide and Mipomersen-Inhibiting Microsomal Triglyceride Transfer Protein (MTP) and apoB100 Synthesis.

Blom DJ, Raal FJ, Santos RD, Marais AD

Current atherosclerosis reports 2019; (21(12)):48 doi:10.1007/s11883-019-0809-3.

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

Page MM, Bell DA, Watts GF

Clinical genetics 2020; (97(4)):543-555 doi:10.1111/cge.13685.

Prediction of Familial Hypercholesterolemia in Patients at High Atherosclerotic Cardiovascular Disease Risk Using a Recently Validated Algorithm.

Alothman L, Zawadka M, Aljenedil S, et al.

CJC open 2019; (1(4)):190-197 doi:10.1016/j.cjco.2019.05.006.

The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing.

Rallidis LS, Iordanidis D, Iliodromitis E

Journal of cardiology 2020; (76(6)):568-572 doi:10.1016/j.jjcc.2020.07.005.

Evinacumab for Homozygous Familial Hypercholesterolemia.

Raal FJ, Rosenson RS, Reeskamp LF, et al.

The New England journal of medicine 2020; (383(8)):711-720 doi:10.1056/NEJMoa2004215.

Risk of cardiovascular disease with lipoprotein(a) in familial hypercholesterolemia: a review.

Watanabe J, Hamasaki M, Kotani K

Archives of medical sciences. Atherosclerotic diseases 2020; (5()):e148-e152 doi:10.5114/amsad.2020.97105.

Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand.

Page MM, Ekinci EI, Burnett JR, et al.

Journal of clinical apheresis 2021; (36(1)):48-58 doi:10.1002/jca.21839.

Advances, gaps and opportunities in the detection of familial hypercholesterolemia: overview of current and future screening and detection methods.

Ibrahim S, Reeskamp LF, Stroes ESG, Watts GF

Current opinion in lipidology 2020; (31(6)):347-355 doi:10.1097/MOL.0000000000000714.

Treatment of heterozygous familial hypercholesterolemia: what does the future hold?

Polychronopoulos G, Tziomalos K

Expert review of clinical pharmacology 2020; (13(11)):1229-1234 doi:10.1080/17512433.2020.1839417.

Low-density Lipoprotein-Cholesterol Lowering Strategies for Prevention of Atherosclerotic Cardiovascular Disease: Focus on siRNA Treatment Targeting PCSK9 (Inclisiran).

Sinning D, Landmesser U

Current cardiology reports 2020; (22(12)):176 doi:10.1007/s11886-020-01427-6.

A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia.

Leclercq T, Falcon-Eicher S, Farnier M, et al.

European heart journal. Case reports 2020; (4(1)):1-5 doi:10.1093/ehjcr/ytz233.

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)-Long-Term Follow-Up of a Patient and Literature Review.

Mlinaric M, Bratanic N, Dragos V, et al.

Frontiers in pediatrics 2020; (8()):567895 doi:10.3389/fped.2020.567895.

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Watts GF, Sullivan DR, Hare DL, et al.

Heart, lung & circulation 2021; (30(3)):324-349 doi:10.1016/j.hlc.2020.09.943.

Role of Bempedoic Acid in Clinical Practice.

Ballantyne CM, Bays H, Catapano AL, et al.

Cardiovascular drugs and therapy 2021; (35(4)):853-864 doi:10.1007/s10557-021-07147-5.

Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Tomlinson B, Patil NG, Fok M, Lam CWK

Endocrinology and metabolism (Seoul, Korea) 2021; (36(2)):279-295 doi:10.3803/EnM.2021.964.

Evinacumab: First Approval.

Markham A

Drugs 2021; (81(9)):1101-1105 doi:10.1007/s40265-021-01516-y.

Lipid lowering with bempedoic acid added to a proprotein convertase subtilisin/kexin type 9 inhibitor therapy: A randomized, controlled trial.

Rubino J, MacDougall DE, Sterling LR, et al.

Journal of clinical lipidology 2021; (15(4)):593-601 doi:10.1016/j.jacl.2021.05.002.

Evinacumab for treatment of familial hypercholesterolemia.

Warden BA, Duell PB

Expert review of cardiovascular therapy 2021; (19(8)):739-751 doi:10.1080/14779072.2021.1955349.

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.

Gallo A, Pérez de Isla L, Charrière S, et al.

JACC. Cardiovascular imaging 2021; (14(12)):2414-2424 doi:10.1016/j.jcmg.2021.06.011.

The scientific basis and future of lipoprotein apheresis.

Thompson GR

Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2022; (26(1)):32-36 doi:10.1111/1744-9987.13716.

Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.

Martin AC, Hooper AJ, Norman R, et al.

Journal of paediatrics and child health 2022; (58(2)):281-287 doi:10.1111/jpc.15700.

Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia.

Paquette M, Bernard S, Cariou B, et al.

Arteriosclerosis, thrombosis, and vascular biology 2021; (41(10)):2632-2640 doi:10.1161/ATVBAHA.121.316106.

Familial Hypercholesterolemia: Global Burden and Approaches.

Tokgozoglu L, Kayikcioglu M

Current cardiology reports 2021; (23(10)):151 doi:10.1007/s11886-021-01565-5.

Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis.

Jackson CL, Huschka T, Borah B, et al.

American journal of preventive cardiology 2021; (8()):100245 doi:10.1016/j.ajpc.2021.100245.

Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Fahed AC, Wang M, Patel AP, et al.

JAMA network open 2022; (5(3)):e222687 doi:10.1001/jamanetworkopen.2022.2687.

Updates on the Use of Subclinical Atherosclerosis to Predict Risk of Cardiovascular Events in Heterozygous Familial Hypercholesterolemia.

Gallo A, Mszar R, Miname MH

Current atherosclerosis reports 2022; (24(6)):407-418 doi:10.1007/s11883-022-01017-7.

Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement.

Kronenberg F, Mora S, Stroes ESG, et al.

European heart journal 2022; (43(39)):3925-3946 doi:10.1093/eurheartj/ehac361.

A Comprehensive Neuropsychological Study of Familial Hypercholesterolemia and Its Relationship with Psychosocial Functioning: A Biopsychosocial Approach.

Chan MF, Ganesh A, Mahadevan S, et al.

Brain sciences 2022; (12(9)) doi:10.3390/brainsci12091127.

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.

Miller AA, Bangash H, Smith CY, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(12)):2535-2543 doi:10.1016/j.gim.2022.08.026.

Cardiogenic shock following acute MI in a young patient with familial hypercholesterolemia, and severe aortic stenosis: A case report.

Davoodabadi Z, Hosseini Z, Norouzi S, et al.

Heliyon 2022; (8(12)):e11909 doi:10.1016/j.heliyon.2022.e11909.

Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.

Larrey D, D'Erasmo L, O'Brien S, et al.

Liver international : official journal of the International Association for the Study of the Liver 2023; (43(2)):413-423 doi:10.1111/liv.15497.

Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022.

Harada-Shiba M, Ohtake A, Sugiyama D, et al.

Journal of atherosclerosis and thrombosis 2023; (30(5)):531-557 doi:10.5551/jat.CR006.

Atherosclerotic plaque regression in homozygous familial hypercholesterolaemia: a case report of a long-term lipid-lowering therapy involving LDL-receptor-independent mechanisms.

Khoury E, Lauzière A, Raal FJ, et al.

European heart journal. Case reports 2023; (7(1)):ytad029 doi:10.1093/ehjcr/ytad029.

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.

Di Taranto MD, Fortunato G

International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043224.

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Chaudhry A, Trinder M, Vesely K, et al.

Circulation. Genomic and precision medicine 2023; (16(2)):e003887 doi:10.1161/CIRCGEN.122.003887.

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Cuchel M, Lee PC, Hudgins LC, et al.

Journal of the American Heart Association 2023; (12(9)):e029175 doi:10.1161/JAHA.122.029175.

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.

Cuchel M, Raal FJ, Hegele RA, et al.

European heart journal 2023; (44(25)):2277-2291 doi:10.1093/eurheartj/ehad197.

Inclisiran: A New Strategy for LDL-C Lowering and Prevention of Atherosclerotic Cardiovascular Disease.

Albosta MS, Grant JK, Taub P, et al.

Vascular health and risk management 2023; (19()):421-431 doi:10.2147/VHRM.S338424.

The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.

März W, Schmidt N, An Haack I, et al.

Atherosclerosis plus 2023; (53()):6-15 doi:10.1016/j.athplu.2023.06.001.

Recent advances in the management and implementation of care for familial hypercholesterolaemia.

Lan NSR, Bajaj A, Watts GF, Cuchel M

Pharmacological research 2023; (194()):106857 doi:10.1016/j.phrs.2023.106857.

Role of lipoprotein(a) in atherosclerotic cardiovascular disease: A review of current and emerging therapies.

Alhomoud IS, Talasaz A, Mehta A, et al.

Pharmacotherapy 2023; (43(10)):1051-1063 doi:10.1002/phar.2851.

Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia.

Wiegman A, Greber-Platzer S, Ali S, et al.

Circulation 2024; (149(5)):343-353 doi:10.1161/CIRCULATIONAHA.123.065529.

Universal lipid screening in adolescents to identify familial hypercholesterolemia in a large healthcare system.

Cortez AB, Salvador M, Li Q, Briscoe A

Journal of clinical lipidology 2024; (18(2)):e166-e175 doi:10.1016/j.jacl.2023.11.016.

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O, Ivanoshchuk D, Semaev S, et al.

International journal of molecular sciences 2023; (25(1)) doi:10.3390/ijms25010314.

Familial hypercholesterolemia in children and the importance of early treatment.

van den Bosch SE, Hutten BA, Corpeleijn WE, Kusters DM

Current opinion in lipidology 2024; (35(3)):126-132 doi:10.1097/MOL.0000000000000926.

Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.

Rallidis LS, Rizos CV, Papathanasiou KA, et al.

Journal of cardiovascular medicine (Hagerstown, Md.) 2024; (25(5)):370-378 doi:10.2459/JCM.0000000000001612.

Familial hypercholesterolemia.

Sawhney JPS, Madan K

Indian heart journal 2024; (76 Suppl 1()):S108-S112 doi:10.1016/j.ihj.2023.12.002.

Surgical Treatment of Multiple Large Tuberous and Tendinous Xanthoma Secondary to Familial Hypercholesterolaemia: A Case Report.

Guan H, Zhang G, Li Q, et al.

Clinical, cosmetic and investigational dermatology 2024; (17()):961-966 doi:10.2147/CCID.S445163.

Evinacumab: Mechanism of action, clinical, and translational science.

Dingman R, Bihorel S, Gusarova V, et al.

Clinical and translational science 2024; (17(6)):e13836 doi:10.1111/cts.13836.

PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.

Grejtakova D, Boronova I, Bernasovska J, Bellosta S

Cardiovascular drugs and therapy 2025; (39(6)):1439-1451 doi:10.1007/s10557-024-07599-5.

The Long-Term Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia.

Raal FJ, Rosenson RS, Reeskamp LF, et al.

JACC. Advances 2023; (2(9)):100648 doi:10.1016/j.jacadv.2023.100648.

Homozygous Familial Hypercholesterolemia in Canada: An Observational Study.

Brown L, Ruel I, Baass A, et al.

JACC. Advances 2023; (2(3)):100309 doi:10.1016/j.jacadv.2023.100309.

A qualitative study of perceptions of the care pathway for familial hypercholesterolemia: screening, diagnosis, treatment, and family cascade screening.

Pettit AR, Klaiman T, Kersting RC, et al.

Implementation science communications 2024; (5(1)):135 doi:10.1186/s43058-024-00670-0.

Lipoprotein(a) in familial dyslipidemias: The effect on cardiovascular prognosis in patients with familial hypercholesterolemia or familial combined hyperlipidemia.

Skoumas I, Andrikou I, Simantiris S, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2025; (35(7)):103867 doi:10.1016/j.numecd.2025.103867.

Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.

Lenin C, Lim PXH, Nastar A, et al.

International journal of behavioral medicine 2026; (33(1)):69-82 doi:10.1007/s12529-025-10357-y.

Impact of Achilles tendon on diagnosis and phenotypes of familial hypercholesterolemia.

Tada H, Nohara A, Kawashiri MA, Takamura M

Current opinion in lipidology 2025; (36(4)):163-169 doi:10.1097/MOL.0000000000000992.

Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9.

Azhar NAA, Chua YA, Nawawi H, Jusoh SA

Journal of molecular modeling 2025; (31(6)):161 doi:10.1007/s00894-025-06380-1.

Real-World Effectiveness and Safety of Evinacumab in Children and Adults With Homozygous Familial Hypercholesterolemia: A Multisite US Perspective-Brief Report.

Wilkinson MJ, Bijlani P, Davidson MH, et al.

Arteriosclerosis, thrombosis, and vascular biology 2025; (45(7)):1310-1315 doi:10.1161/ATVBAHA.124.322364.

Long-term experience with lomitapide treatment in patients with homozygous familial hypercholesterolemia: Over 10 years of efficacy and safety data.

Arca M, D'Erasmo L, Cuchel M, et al.

Journal of clinical lipidology 2025; (19(4)):775-789 doi:10.1016/j.jacl.2025.03.015.

Homozygous Familial Hypercholesterolemia in a Seven-Year-Old: A Case Study Highlighting the Importance of Early Diagnosis.

Bensabbahia D, El Achiwi M, Atrassi M, et al.

Cureus 2025; (17(6)):e86219 doi:10.7759/cureus.86219.

An Overview of Familial Hypercholesterolemia in Children and Adolescents-The Story So Far.

Strati M, Karatza A, Sinopidis X, Kostopoulou E

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; (32(3)):464-471 doi:10.1016/j.eprac.2025.11.004.

Genetic Testing for Children with Familial Hypercholesterolemia.

Nagahara K, Tada H, Dobashi K

Journal of atherosclerosis and thrombosis 2026; (33(3)):237-248 doi:10.5551/jat.RV22046.

Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry.

Erzingatzian A, Al-Baldawi Z, Ruel I, et al.

JACC. Advances 2026; (5(2)):102505 doi:10.1016/j.jacadv.2025.102505.

Assessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype.

Mancini GBJ, Ryomoto A, Ruel I, et al.

Atherosclerosis 2026; (414()):120646 doi:10.1016/j.atherosclerosis.2026.120646.

The High Price of Interrupted Follow-Up: Catastrophic Progression of Homozygous Familial Hypercholesterolemia-A Case Report and Literature Review.

Dastjerdi P, Aghababaei M, Nikfar R, et al.

Clinical case reports 2026; (14(2)):e72028 doi:10.1002/ccr3.72028.

Update on familial hypercholesterolemia: An expert clinical consensus from the National Lipid Association.

Ahmad Z, Agarwala A, Cuchel M, et al.

Journal of clinical lipidology 2026; (20(4)):708-737 doi:10.1016/j.jacl.2026.01.011.

Novel Approaches to Lipid Management: Beyond Statins and PCSK9 Inhibitors.

Patel J, Shah S, Reddy A, et al.

Journal of clinical medicine research 2026; (18(3)):121-141 doi:10.14740/jocmr6523.

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

Wiegman A, Bourbon M, Freiberger T, et al.

European heart journal 2026; (47(26)):3324-3346 doi:10.1093/eurheartj/ehag382.

New and Emerging Therapeutic Targets for ApoB-Containing Particles Lowering.

Gaudet D, Larouche M, Raal FJ, Catapano AL

Circulation research 2026; (138(12)):e327270 doi:10.1161/CIRCRESAHA.126.327270.

Cholesterol-lowering therapy from childhood/adolescence and long-term outcomes in familial hypercholesterolaemia: the SAFEHEART study.

Vallejo-Vaz AJ, Arroyo-Olivares R, Alonso R, et al.

European heart journal 2026; doi:10.1093/eurheartj/ehag349.

Intravascular Ultrasound-Guided Stenting of the Left Main Coronary Artery in a Pediatric Patient with Homozygous Familial Hypercholesterolemia.

Quennelle S, Aouchiche K, Cuisset T, et al.

Pediatric cardiology 2026; doi:10.1007/s00246-026-04390-1.