Familial hyperthyroidism

Overview

Diagnosis

Management

Special Populations

Key Recommendations

References

Showing 100 most recent of 316 indexed papers.

1 Scilletta S, Miano N, Di Marco M, Musmeci M, Carasi S, Capuccio S et al.. Evaluation of cognitive profile and subclinical vascular damage in subjects with genetically confirmed familial hypercholesterolemia. European journal of internal medicine 2026. link 2 Arumugham AS, Zhang X, Judson G, Peterson AL. Comorbid medical conditions present in pediatric subjects at the time of diagnosis of familial hypercholesterolemia. Journal of clinical lipidology 2026. link 3 Genedy N, Zouwail S. ApoB/LDL-C discordance as a predictor of atherosclerotic cardiovascular disease in genetically confirmed heterozygous familial hypercholesterolemia: A hypothesis-generating cohort study. Journal of clinical lipidology 2026. link 4 Juliani FC, Freitas FR, Miname MH, Rocha VZ, Lima JMDHS, Freitas RAMS et al.. Metabolic and functional aspects of high-density lipoproteins (HDL) in familial hypercholesterolemia with or without subclinical coronary atherosclerosis. Journal of clinical lipidology 2026. link 5 Bobrowska B, Rajtar-Salwa R, Zasada W, Zawada M, Pawliński Ł, Waluś-Miarka M et al.. Primary care provider-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases. Polish archives of internal medicine 2026. link 6 Abraham N, P PV, Menon U, Bhavani N, Nair V, Futema M et al.. Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia. Scientific reports 2026. link 7 Ernaga Lorea A, Apellaniz Ruiz M, Martinez de Esteban JP, Garcia Torres J, de Carlos Artajo J, Anda Apiñaniz E. Assessment of subclinical atherosclerosis with coronary calcium score in heterozygous familial hypercholesterolemia. Acta cardiologica 2026. link 8 Bosco G, Di Giacomo Barbagallo F, Di Marco M, Scilletta S, Miano N, Capuccio S et al.. Evaluations of metabolic and innate immunity profiles in subjects with familial hypercholesterolemia with or without subclinical atherosclerosis. European journal of internal medicine 2025. link 9 Paquette M, Ruel I, Guay SP, Al-Baldawi Z, Brisson D, Gaudet D et al.. Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia. Journal of clinical lipidology 2025. link 10 Tamehri Zadeh SS, Chan DC, Mata P, Watts GF. Coronary artery event-free or resilient familial hypercholesterolemia: what's in a name?. Current opinion in endocrinology, diabetes, and obesity 2025. link 11 Meng R, Wei Q, Zhou J, Zhang B, Li C, Shen M. A systematic review of cost-effectiveness analysis of different screening strategies for familial hypercholesterolemia. Journal of clinical lipidology 2024. link 12 Pang J, Sanfilippo FM, Chan DC, Watts GF. Adherence to pharmacotherapy: sine qua non for reducing cumulative risk of premature coronary disease in familial hypercholesterolemia. Current opinion in endocrinology, diabetes, and obesity 2024. link 13 de Oliveira J, Moreira ELG, de Bem AF. Beyond cardiovascular risk: Implications of Familial hypercholesterolemia on cognition and brain function. Ageing research reviews 2024. link 14 Tada H, Nohara A, Usui S, Sakata K, Kawashiri MA, Takamura M. Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan. Journal of atherosclerosis and thrombosis 2024. link 15 Roy G, Drouin-Chartier JP. Cardiovascular disease prevention in heterozygous familial hypercholesterolemia: how important is a healthy diet in the era of long-lasting cholesterol-lowering drug therapies?. Current opinion in lipidology 2024. link 16 Molokhia M, Wierzbicki AS, Williams H, Kirubakaran A, Devani R, Durbaba S et al.. Assessment of ethnic inequalities in diagnostic coding of familial hypercholesterolaemia (FH): A cross-sectional database study in Lambeth, South London. Atherosclerosis 2024. link 17 Loh WJ, Pang J, Chakraborty A, Ward NC, Chan DC, Hooper AJ et al.. Cascade testing of children and adolescents for elevated Lp(a) in pedigrees with familial hypercholesterolaemia. Journal of clinical lipidology 2024. link 18 Chen L, Peng H, Wang BL, Yu WY, Ding XH, Gao MX et al.. Trends and hotspots in familial hypercholesterolemia: A bibliometric systematic review from 2002 to 2022. Medicine 2023. link 19 Vaseghi G, Javanmard SH, Heshmat-Ghahdarijani K, Sarrafzadegan N, Amerizadeh A. Comorbidities with Familial Hypercholesterolemia (FH): A Systematic Review. Current problems in cardiology 2023. link 20 Surma S, Romańczyk M, Filipiak KJ. Angiopoietin-like proteins inhibitors: New horizons in the treatment of atherogenic dyslipidemia and familial hypercholesterolemia. Cardiology journal 2023. link 21 Awan Z, Batran A, Al-Allaf FA, Alharbi RS, Hegazy GA, Jamalalail B et al.. Identification and functional characterization of two rare LDLR stop gain variants (p.C231 and p.R744) in Saudi familial hypercholesterolemia patients. Panminerva medica 2023. link 22 Peretti N, Vimont A, Mas E, Ferrières J, Tounian P, Lemale J et al.. Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis. The Journal of pediatrics 2023. link 23 Faria R, Saramago P, Cox E, Weng S, Iyen B, Akyea RK et al.. How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis. Atherosclerosis 2023. link 24 Kallapur A, Sallam T. Pharmacotherapy in familial hypercholesterolemia - Current state and emerging paradigms. Trends in cardiovascular medicine 2023. link 25 Ziółkowska S, Kijek N, Zendran I, Szuster E, Barg E. Familial hypercholesterolemia - treatment update in children, systematic review. Pediatric endocrinology, diabetes, and metabolism 2022. link 26 Jahn B, Santamaria J, Dieplinger H, Binder CJ, Ebenbichler C, Scholl-Bürgi S et al.. Familial hypercholesterolemia: A systematic review of modeling studies on screening interventions. Atherosclerosis 2022. link 27 Amerizadeh A, Javanmard SH, Sarrafzadegan N, Vaseghi G. Familial Hypercholesterolemia (FH) Registry Worldwide: A Systematic Review. Current problems in cardiology 2022. link 28 Fasano T, Trenti C, Negri EA, Guiducci V, Foracchia M, Bonelli E et al.. Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective study. Nutrition, metabolism, and cardiovascular diseases : NMCD 2022. link 29 Ogura M, Harada-Shiba M, Masuda D, Arai H, Bujo H, Ishibashi S et al.. Factors Associated with Carotid Atherosclerosis and Achilles Tendon Thickness in Japanese Patients with Familial Hypercholesterolemia: A Subanalysis of the Familial Hypercholesterolemia Expert Forum (FAME) Study. Journal of atherosclerosis and thrombosis 2022. link 30 Naito R, Daida H, Masuda D, Harada-Shiba M, Arai H, Bujo H et al.. Relation of Serum Lipoprotein(a) Levels to Lipoprotein and Apolipoprotein Profiles and Atherosclerotic Diseases in Japanese Patients with Heterozygous Familial Hypercholesterolemia: Familial Hypercholesterolemia Expert Forum (FAME) Study. Journal of atherosclerosis and thrombosis 2022. link 31 Chakraborty A, Pang J, Chan DC, Ellis KL, Hooper AJ, Bell DA et al.. Cascade testing for elevated lipoprotein(a) in relatives of probands with familial hypercholesterolaemia and elevated lipoprotein(a). Atherosclerosis 2022. link 32 Vuorio A, Budowle B, Kovanen PT. Airborne particles and cardiovascular morbidity in severe inherited hypercholesterolemia: Vulnerable endothelium under multiple attacks. BioEssays : news and reviews in molecular, cellular and developmental biology 2022. link 33 Harada-Shiba M, Ako J, Hirayama A, Nakamura M, Nohara A, Sato K et al.. Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J. Journal of atherosclerosis and thrombosis 2022. link 34 Yamashita S, Masuda D, Harada-Shiba M, Arai H, Bujo H, Ishibashi S et al.. Effectiveness and Safety of Lipid-Lowering Drug Treatments in Japanese Patients with Familial Hypercholesterolemia: Familial Hypercholesterolemia Expert Forum (FAME) Study. Journal of atherosclerosis and thrombosis 2022. link 35 Tada H, Hori M, Matsuki K, Ogura M, Nohara A, Kawashiri MA et al.. Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene. Journal of atherosclerosis and thrombosis 2022. link 36 Toutouzas K, Antonopoulos AS, Koutagiar I, Skoumas I, Benetos G, Kafouris P et al.. Visceral adipose tissue phenotype and hypoadiponectinemia are associated with aortic Fluorine-18 fluorodeoxyglucose uptake in patients with familial dyslipidemias. Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology 2022. link 37 Brandts J, Dharmayat KI, Vallejo-Vaz AJ, Azar Sharabiani MT, Jones R, Kastelein JJP et al.. A meta-analysis of medications directed against PCSK9 in familial hypercholesterolemia. Atherosclerosis 2021. link 38 Dombalis S, Nash A. The Effect of Statins in Children and Adolescents With Familial Hypercholesterolemia: A Systematic Review. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2021. link 39 Bułdak Ł. The treatment of heterozygous familial hypercholesterolemia - a local perspective. Endokrynologia Polska 2021. link 40 Bianconi V, Banach M, Pirro M. Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels. Trends in cardiovascular medicine 2021. link 41 Diamond DM, Alabdulgader AA, de Lorgeril M, Harcombe Z, Kendrick M, Malhotra A et al.. Dietary Recommendations for Familial Hypercholesterolaemia: an Evidence-Free Zone. BMJ evidence-based medicine 2021. link 42 Yaman S, Ozdemir D, Akman BT, Cakir B, Ersoy O. Awareness, treatment rates, and compliance to treatment in patients with serum LDL cholesterol higher than 250 mg/dL, and possible, probable, or definite familial hypercholesterolemia. Postgraduate medicine 2021. link 43 Tada H, Okada H, Nomura A, Usui S, Sakata K, Nohara A et al.. Clinical Diagnostic Criteria of Familial Hypercholesterolemia　- A Comparison of the Japan Atherosclerosis Society and Dutch Lipid Clinic Network Criteria. Circulation journal : official journal of the Japanese Circulation Society 2021. link 44 Ferrari F, Martins VM, Rocha VZ, Santos RD. Advances with lipid-lowering drugs for pediatric patients with familial hypercholesterolemia. Expert opinion on pharmacotherapy 2021. link 45 Coutinho ER, Miname MH, Rocha VZ, Bittencourt MS, Jannes CE, Tada MT et al.. Familial hypercholesterolemia and cardiovascular disease in older individuals. Atherosclerosis 2021. link 46 Cao YX, Liu HH, Jin JL, Sun D, Guo YL, Wu NQ et al.. Plasma proprotein convertase subtilisin/kexin type 9 concentration and recurrent cardiovascular events in patients with familial hypercholesterolemia. European journal of preventive cardiology 2021. link 47 Shiomi M. The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (I) - Contribution to the Elucidation of the Pathophysiology of Human Hypercholesterolemia and Coronary Heart Disease. Journal of atherosclerosis and thrombosis 2020. link 48 Page MM, Bell DA, Watts GF. Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?. Clinical genetics 2020. link 49 Taghizadeh E, Taheri F, Gheibi Hayat SM, Montecucco F, Carbone F, Rostami D et al.. The atherogenic role of immune cells in familial hypercholesterolemia. IUBMB life 2020. link 50 Shiomi M. The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (II) - Contribution to the Development and Validation of the Therapeutics for Hypercholesterolemia and Atherosclerosis. Journal of atherosclerosis and thrombosis 2020. link 51 Chowdhury UK, Chauhan A, Hasija S, Jena JK, Sankhyan LK, Phulware R. Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report. World journal for pediatric & congenital heart surgery 2020. link 52 Zhao H, Li Y, He L, Pu W, Yu W, Li Y et al.. In Vivo AAV-CRISPR/Cas9-Mediated Gene Editing Ameliorates Atherosclerosis in Familial Hypercholesterolemia. Circulation 2020. link 53 Ladha S, Makhija N, Kiran U, Aarav SK. Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature. World journal for pediatric & congenital heart surgery 2020. link 54 Pang J, Sullivan DR, Brett T, Kostner KM, Hare DL, Watts GF. Familial Hypercholesterolaemia in 2020: A Leading Tier 1 Genomic Application. Heart, lung & circulation 2020. link 55 Duell PB, Gidding SS, Andersen RL, Knickelbine T, Anderson L, Gianos E et al.. Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry. Atherosclerosis 2019. link 56 Parham JS, Goldberg AC. Mipomersen and its use in familial hypercholesterolemia. Expert opinion on pharmacotherapy 2019. link 57 Mirzaee S, Thein PM, Wong D, Nasis A. A Small Change Can Make a Big Difference: A Lesson from Evolocumab. Heart, lung & circulation 2019. link 58 Vinson A, Guerra L, Hamilton L, Wilson DP, Fnla. Reverse Cascade Screening for Familial Hypercholesterolemia. Journal of pediatric nursing 2019. link 59 Sun D, Cao YX, You XD, Zhou BY, Li S, Guo YL et al.. Clinical and genetic characteristics of familial hypercholesterolemia patients with type 2 diabetes. Journal of endocrinological investigation 2019. link 60 Humphries SE, Cooper JA, Capps N, Durrington PN, Jones B, McDowell IFW et al.. Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register. Atherosclerosis 2019. link 61 Urke EB, Søbye S, Ellingvåg A, Langslet G, Retterstøl K, Wandel M. Familial hypercholesterolemia and young patients' thoughts on own condition and treatment. Patient education and counseling 2019. link 62 von Bauer R, Oikonomou D, Sulaj A, Kopf S, Fleming T, Rudofsky G et al.. Pleiotropic Effect of Lipoprotein-Apheresis on the Soluble Form of Activated Leukocyte Cell Adhesion Molecule (sALCAM) in Familial Hypercholesterolaemia. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2019. link 63 Lan NSR, Martin AC, Brett T, Watts GF, Bell DA. Improving the detection of familial hypercholesterolaemia. Pathology 2019. link 64 Patel P, Hu Y, Kolinovsky A, Geng Z, Ruhl J, Krishnamurthy S et al.. Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care. Journal of the American Heart Association 2019. link 65 Paquette M, Dufour R, Baass A. ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia. Journal of clinical lipidology 2018. link 66 Guo X, Gao M, Wang Y, Lin X, Yang L, Cong N et al.. LDL Receptor Gene-ablated Hamsters: A Rodent Model of Familial Hypercholesterolemia With Dominant Inheritance and Diet-induced Coronary Atherosclerosis. EBioMedicine 2018. link 67 Sun D, Li S, Zhao X, Wu NQ, Zhu CG, Guo YL et al.. Association between lipoprotein (a) and proprotein convertase substilisin/kexin type 9 in patients with heterozygous familial hypercholesterolemia: A case-control study. Metabolism: clinical and experimental 2018. link 68 Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M. Assessment of arterial stiffness in patients with familial hypercholesterolemia. Journal of clinical lipidology 2018. link 69 Kaestner TL, Bento VF, Pazin DC, Baena CP, Olandoski M, Abreu GA et al.. Prevalence of high cholesterol levels suggestive of familial hypercholesterolemia in Brazilian adolescents: Data from the study of cardiovascular risk in adolescents. Journal of clinical lipidology 2018. link 70 Kuang H, Zhou X, Li L, Yi Q, Shou W, Lu T. Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report. Medicine 2018. link 71 Bellgard MI, Walker CE, Napier KR, Lamont L, Hunter AA, Render L et al.. Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration. Journal of atherosclerosis and thrombosis 2017. link 72 Lima-Martínez MM, Paoli M, Vázquez-Cárdenas A, Magaña-Torres MT, Guevara O, Muñoz MC et al.. Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela. Endocrinologia, diabetes y nutricion 2017. link 73 Li JJ, Li S, Zhu CG, Wu NQ, Zhang Y, Guo YL et al.. Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography. Arteriosclerosis, thrombosis, and vascular biology 2017. link 74 Santos RD, Bourbon M, Alonso R, Cuevas A, Vasques-Cardenas NA, Pereira AC et al.. Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. Journal of clinical lipidology 2017. link 75 Pérez-Calahorra S, Sánchez-Hernández RM, Plana N, Marco-Benedi V, Pedro-Botet J, Almagro F et al.. Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients. The American journal of cardiology 2017. link 76 Escate R, Padro T, Borrell-Pages M, Suades R, Aledo R, Mata P et al.. Macrophages of genetically characterized familial hypercholesterolaemia patients show up-regulation of LDL-receptor-related proteins. Journal of cellular and molecular medicine 2017. link 77 Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP et al.. Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia. Atherosclerosis 2017. link 78 Schofield J, Kwok S, France M, Capps N, Eatough R, Yadav R et al.. Knowledge gaps in the management of familial hypercholesterolaemia. A UK based survey. Atherosclerosis 2016. link 79 Turunen TA, Kurkipuro J, Heikura T, Vuorio T, Hytönen E, Izsvák Z et al.. Sleeping Beauty Transposon Vectors in Liver-directed Gene Delivery of LDLR and VLDLR for Gene Therapy of Familial Hypercholesterolemia. Molecular therapy : the journal of the American Society of Gene Therapy 2016. link 80 Besseling J, Huijgen R, Martin SS, Hutten BA, Kastelein JJ, Hovingh GK. Clinical phenotype in relation to the distance-to-index-patient in familial hypercholesterolemia. Atherosclerosis 2016. link 81 Ellins EA, New KJ, Datta DB, Watkins S, Haralambos K, Rees A et al.. Validation of a new method for non-invasive assessment of vasomotor function. European journal of preventive cardiology 2016. link 82 Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T et al.. Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. European journal of human genetics : EJHG 2016. link 83 Waluś-Miarka M, Czarnecka D, Wojciechowska W, Kloch-Badełek M, Kapusta M, Sanak M et al.. Carotid Plaques Correlates in Patients With Familial Hypercholesterolemia. Angiology 2016. link 84 Safeer R. Familial hypercholesterolemia: clues to catching it early. The Journal of family practice 2015. link 85 Santos RD, Frauches TS, Chacra AP. Cascade Screening in Familial Hypercholesterolemia: Advancing Forward. Journal of atherosclerosis and thrombosis 2015. link 86 Knowles JW, Stone NJ, Ballantyne CM. Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification, and Misinterpretation Versus Facts. The American journal of cardiology 2015. link 87 Futema M, Kumari M, Boustred C, Kivimaki M, Humphries SE. Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?. Atherosclerosis 2015. link 88 Huang CH, Chiu PC, Liu HC, Lu YH, Huang JK, Charng MJ et al.. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect. Journal of clinical lipidology 2015. link 89 Bamimore MA, Zaid A, Banerjee Y, Al-Sarraf A, Abifadel M, Seidah NG et al.. Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry. Journal of clinical lipidology 2015. link 90 Hiddink L, Dallinga-Thie GM, Hovingh GK, de Visser MC, Peer PG, Stalenhoef AF et al.. Annexin A5 haplotypes in familial hypercholesterolemia: lack of association with carotid intima-media thickness and cardiovascular disease risk. Atherosclerosis 2015. link 91 Santos RD, Duell PB, East C, Guyton JR, Moriarty PM, Chin W et al.. Long-term efficacy and safety of mipomersen in patients with familial hypercholesterolaemia: 2-year interim results of an open-label extension. European heart journal 2015. link 92 Pang J, Sullivan DR, Harada-Shiba M, Ding PY, Selvey S, Ali S et al.. Significant gaps in awareness of familial hypercholesterolemia among physicians in selected Asia-Pacific countries: a pilot study. Journal of clinical lipidology 2015. link 93 Foody JM. Familial hypercholesterolemia: an under-recognized but significant concern in cardiology practice. Clinical cardiology 2014. link 94 Bell DA, Hooper AJ, Edwards G, Southwell L, Pang J, van Bockxmeer FM et al.. Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner. Atherosclerosis 2014. link 95 Simmons GH, Padilla J, Jenkins NT, Laughlin MH. Exercise training and vascular cell phenotype in a swine model of familial hypercholesterolaemia: conduit arteries and veins. Experimental physiology 2014. link 96 Chen H, Wang L, Jiang J. Transcriptome and miRNA network analysis of familial hypercholesterolemia. International journal of molecular medicine 2014. link 97 Yuasa Y, Osaki T, Makino H, Iwamoto N, Kishimoto I, Usami M et al.. Proteomic analysis of proteins eliminated by low-density lipoprotein apheresis. 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 2014. link 98 Fahed AC, Habib RH, Nemer GM, Azar ST, Andary RR, Arabi MT et al.. Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia. Annals of vascular surgery 2014. link 99 Kusters DM, Wiegman A, Kastelein JJ, Hutten BA. Carotid intima-media thickness in children with familial hypercholesterolemia. Circulation research 2014. link 100 Mata N, Alonso R, Banegas JR, Zambón D, Brea A, Mata P. Quality of life in a cohort of familial hypercholesterolemia patients from the south of Europe. European journal of public health 2014. link