Familial hypercholesterolemia: Developments in diagnosis and treatment;Familiäre Hypercholesterinämie: Entwicklungen in Diagnostik und Behandlung

Deutsches Arzteblatt International

Volumn 111, Issue 31-32, 2014, Pages

  Klose, Gerald ^a   Laufs, Ulrich ^b   März, Winfried ^c,d   Windler, Eberhard ^e  

^a Kardiologie und Präventionsmedizin   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d SYNLAB ACADEMY   (Germany)

^e UNIVERSITY HEART CENTER HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

APHERESIS; ATHEROSCLEROSIS; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; GENETIC DISORDER; GERMANY; GOLD STANDARD; HUMAN; ISCHEMIC HEART DISEASE; LIFESTYLE; PATHOGENESIS; PROGNOSIS; REVIEW; EARLY DIAGNOSIS; GENETIC SCREENING; GENETICS; MASS SCREENING; MOLECULAR PATHOLOGY; PROCEDURES; RISK REDUCTION;

EARLY DIAGNOSIS; GENETIC TESTING; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; MASS SCREENING; PATHOLOGY, MOLECULAR; RISK REDUCTION BEHAVIOR;

EID: 84907477296     PISSN: 18660452     EISSN: None     Source Type: Journal    
DOI: 10.3238/arztebl.2014.0523     Document Type: Review

References (88)

1. Raal FJ, Santos RDl: Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis. 2012; 223: 262-8.
2. Hovingh GK, Davidson MH, Kastelein JJP, O'Connor AM: Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J 2013; 34: 962-71.
3. Besseling J, Kindt I, Hof M, Kastelein JJP, Hutten BA, Hovingh GK: Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14, 000 mutation carriers. Atherosclerosis 2014; 233: 219-23.
4. Goldstein JL, Brown MS: Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coen-zyme A reductase activity associated with overproduction of cholesterol. Proc Natl Acad Sci 1973; 70: 2804-8.
5. Brown MS, Goldstein JL: A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
6. Baigent C, Keech A, Kearney PM, et al.: Cholesterol Treatment Tria-lists' (CTT) Collaborators. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90, 056 participants in 14 randomised trials of statins. Lancet 2005; 366: 1267-78.
7. Nordestgaard BG, Chapman MJ, Humphries SE, et al.: for the European Atherosclerosis Society Consensus Panel. Familial hypercho-lesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478-90.
8. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ: Familial hypercholesterolaemia: A pressing issue for European health care. Atherosclerosis 2013; 231: 223-6.
9. Benn M, Watts G F, Tybjaerg-Hansen A, Nordestgaard BG: Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97: 3956-64
10. Heiberg A, Berg K: The inheritance of hyperlipoproteinaemia with xant-homatosis. A study of 132 kindreds. Clin Genet 1976; 9: 203-33.
11. Moorjani S, Roy M, Gagné C, et al.: Homozygous familial hypercho-lesterolemia among French Canadians in Québec Province. Arterio-sclerosis 1989; 9: 211-6.
12. Steyn K, Goldberg J P, Kotze MJ, et al.: Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet 1996; 98: 479-84.
13. Kusters DM, Huijgen R, Defesche JC, et al.: Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes. Neth Heart J 2011; 19: 175-82.
14. Fahed AC, Safa RM, Haddad F F, et al.: Homozygous familial hyper-cholesterolemia in Lebanon: a genotype/phenotype correlation. Mol Genet Metab 2011; 102: 181-8.
15. Vergopoulos A, Bajari T, Jouma M, et al.: A xanthomatosis-suscepti-bility gene may exist in a Syrian family with familial hypercholeste-rolemia. Eur J Hum Genet 1997; 5: 315-23.
16. Neil A, Cooper J, Betteridge J, Capps N, et al.: Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J 2008; 29: 2625-33.
17. Alonso R, Mata P, Zambón D, Mata N, Fuentes-Jiménez F: Early diag nosis and treatment of familial hypercholesterolemia: improving patient outcomes. Expert Rev Cardiovasc Ther 2013; 11: 327-42.
18. Harada-Shiba M, Sugisawa T, Makino H, et al.: Impact of statin treatment on the clinical fate of heterozygous familial hypercholesterole-mia. J Atheroscler Thromb 2010; 17: 667-74.
19. Raal FJ, Pilcher GJ, Panz VR, et al.: Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202-7.
20. Therapieempfehlungen der Arzneimittelkomission der deutschen Ärzteschaft: Empfehlungen zur Therapie von Fettstoffwechselstörungen. Arzneiverordnung in der Praxis, 2012.
21. Reiner Z, Catapano AL, De Backer G, et al.: ESC/EAS guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J 2011; 32: 1769-818.
22. Perk J, De Backer G, Gohlke H, et al.: European guidelines on cardiovascular disease prevention in clinical practice (version 2012). The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts). Eur Heart J 2012; 33: 1635-701.
23. Stone NJ, Robinson J, Lichtenstein AH, et al.: 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce athero-sclerotic cardiovascular risk in adults: A report of the American College of Cardiology/American Heart Association task force on Practice Guidelines. Circulation 2013 Nov 12. [Epub ahead of print].
24. Brown MS, Dana SE, Goldstein JL: Regulation of 3-hydroxy-3-me- thylglutaryl coenzyme A reductase activity in cultured human fibro-blasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 1974; 249: 789-96.
25. Abifadel M, Varret M, Rabès J P, Allard D, et al.: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154-6.
26. Fahed AC, Nemer GM: Familial hypercholesterolemia: the lipids or the genes? Nutr Metab 2011; 22: 23.
27. Marks D, Thorogood M, Andrew H, Neil W, Humphries SE: A review on the diagnosis, natural history, and treatment of familial hyper-cholesterolaemia. Atherosclerosis 2003; 168: 1-14.
28. Keller C, v. Eckardstein A, Hersberger M: Primäre Dyslipoprotein-ämien, Störungen des LDL-Cholesterin-Stoffwechsels. In: Schwandt P und Parhofer KG (eds): Handbuch der Fettstoffwechselstörungen. Stuttgart: Schattauer Verlag 2007; 80-112.
29. Parhofer KG: Klassifikation von Dyslipoproteinämien. In: Schwandt P und Parhofer KG (eds): Handbuch der Fettstoffwechselstörungen. Stuttgart: Schattauer Verlag 2007; 74-80.
30. Rallidis L, Naoumova R P, Thompson GR, Nihoyannopoulos P: Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 1998; 80: 583-90.
31. Christoffersen M, Frikke-Schmidt R, Schnor P, et al.: Xanthelasma-ta, arcus corneae, and ischaemic vascular disease and death in general population: prospective cohort study. BMJ 2011; 343: d5497.
32. Glueck CJ, Levy RI, Fredrickson DS: Acute tendinitis and arthritis. A presenting symptom of familial type II hyperlipoproteinemia. JAMA 1968; 206: 2895-7.
33. Li SG: Images in clinical medicine familial hypercholesterolemia. N Engl J Med 2009; 360: 1885.
34. Alfadhli El: Cholesterol deposition around small joints of the hands in familial hypercholesterolemia mimicking .,Bouchard's and Heber-den's Nodes" of Osteoarthritis. Intern Med 2010, 49: 1675-6.
35. Seed M, Hoppichler F, Reaveley D, et al.: Relation of serum lipopro-tein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N Engl J Med 1990; 322: 1494-9.
36. Hill JS, Hayden MR, Frohlich J, Pritchard PH: Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb 1991; 11: 290-7.
37. Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC: Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 2002; 106: 3031-6.
38. Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJ: Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and with-out tendon xanthomas: a systematic review and meta-analysis. Atherosclerosis 2009; 207: 311-7.
39. NICE: Familial hypercholesterolaemia, Identification and management of familial hypercholesterolaemia. Clinical guidelines, CG71-Issued: 2008 (CG71) http://guidance.nice.org.uk/CG71 Last accessed on 22 May 2014.
40. Alonso R, Defesche JC, Tejedor D, et al.: Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem 2009; 42: 899-903.
41. Kassner U, Wühle-Demuth M, Missala I, et al.: Clinical utility gene card for: Hyperlipoproteinemia, Type II. Eur J Hum Genet 2013 Nov 20. doi: 10.1038/ejhg.2013.271.
42. Talmud PJ, Shah S, Wittall R, et al.: Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013; 381: 1293-301.
43. Gendiagnostikgesetz www.bmg.bund.de/glossarbegriffe/g/gendi agnostikgesetz.html. Last accessed on 22 May 2014.
44. Stollorz V: Erbkrankheiten, mehr als nur ein Familiengeheimnis www.faz.net/aktuell/wissen/mensch-gene/erbkrankheiten-mehr-als-nur-ein- familiengeheimnis-1623128.html. Last accessed on 22 May 2014.
45. Umans-Eckenhausen MAW, Defesche JC, van Dam MJ, Kastelein JJ: Longterm compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch Intern Med 2003; 163: 65-8.
46. Steinmetz A, Kaffarnik H: Familiäre Dysbetalipoproteinämie. In: Schwandt P und Parhofer KG (eds.): Handbuch der Fettstoffwechselstörungen. Stuttgart: Schattauer Verlag 2007; 185-98.
47. Björkhem I, Leitersdorf E: Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. Trends En-docrinol Metab 2000; 11: 180-3.
48. Salen G, Shefer S, Nguyen L, Ness GC, Tint GS, Shore, V: Sitoste-rolemia. J Lipid Res 1992; 33: 945-55.
49. Raal FJ, Pilcher GJ, Panz VR, et al.: Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202-7.
50. Versmissen J, Oosterveer DM, Yazdanpanah M, et al.: Efficacy of statins in familial hypercholesterolaemia: a long term cohort study BMJ 2008; 337: a2423.
51. Stein EA, Strutt K, Southworth H, Diggle PJ, Miller E, heFH Study Group: Comparison of rosuvastatin versus atorvastatin in patients with heterozygous familial hypercholesterolemia. Am J Cardiol 2003; 92: 1287-93.
52. Watts G, Gidding S, Wierzbicki AS, et al.: Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. J Clin Lipidol 2014; I2: 148-72.
53. Lebenthal Y, Horvath A, Dziechciarz P, Szajewska H, Shamir R: Are treatment targets for hypercholesterolemia evidence based? Systematic review and meta-analysis of randomised controlled trials. Arch Dis Child 2010; 95: 673-80.
54. Goldberg AC, Hopkins PN, Toth P P, et al.: Familial hypercholeste- rolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. Journal of Clinical Lipidology 2011; 5: 133-40.
55. Marais AD, Firth JC, Blom DJ: Homozygous familial hypercholeste-rolemia and its management. Semin Vasc Med 2004; 4: 43-50.
56. Vuorio A, Kuoppala J, Kovanen PT, et al.: Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 7 (2010 Jul 7), CD006401.
57. Lecarpentier E, Morel O, Fournier T, Elefant E, Chavatte-Palmer P, Tsatsaris V: Statins and pregnancy: between supposed risks and theoretical benefits. Drugs 2012; 72: 773-88.
58. Winterfeld U, Allignol A, Panchaud A, et al.: Pregnancy outcome following maternal exposure to statins: a multicentre prospective study. BJOG 2013; 120: 463-71.
59. Kusters DM, Lahsinoui HH, van de Post JA, et al.: Statin use during pregnancy: a systematic review and metaanalysis. Expert Rev Cardiovasc Ther 2012; 10: 363-78.
60. Yamamoto A, Harada-Shiba M, Endo M, et al.: The effect of ezetimibe on serum lipids and lipoproteins in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis therapy. Atherosclerosis 2006; 86: 126-31.
61. Kastelein JJ, Akdim F, Stroes EG, et al.: Simvastatin with or without ezetimibe in familial hypercholesterolemia. N Engl J Med 2008; 358: 1431-43.
62. Davidson M: The efficacy of colesevelam HCl in the treatment of heterozygous familial hypercholesterolemia in pediatric and adult patients. Clin Ther 2013; 35: 1247-52.
63. Thompson GR, Miller J P, Breslow JL: Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange. BMJ 1985; 291: 1671-3.
64. Keller C: LDL-apheresis in homozygous LDL-receptor-defective familial hypercholesterolemia: the Munich experience. Atheroscler Suppl 2009;10: 21-6.
65. Hemphill LC: Familial hypercholesterolemia: current treatment options and patient selection for low-density lipoprotein apheresis. J Clin Lipidol 2010; 4: 346-9.
66. Stefanutti C, Julius U: Lipoprotein apheresis: state of the art and novelties. Atheroscler Suppl 2013, 14; 19-27.
67. Thompson GR: The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl. 2013; 14: 67-70.
68. McGowan MP: Emerging low-density lipoprotein (LDL) therapies: Management of severely elevated LDL cholesterol-The role of LDL-apheresis. J Clin Lipidol 2013; 7 (Suppl 3): 21-6
69. Schettler VN, Neumann CL, Hulpe-Wette M, et al.: Current view: indications for extracorporeal lipid apheresis treatment Clin Res Cardiol Suppl 2012; 7 (Suppl 1): 15-19.
70. Buchwald H, Moore RB, Lee GB: Partial ileal bypass for hypercho-lesterolemia and atherosclerosis. Surg Gynecol Obstet 1967; 124: 1231-8.
71. Buchwald H, Varco RL, Matts J P, et al.: Effect of partial ileal bypass surgery on mortality and morbidity from coronary heart disease in patients with hypercholesterolemia. Report of the Program on the Surgical Control of the Hyperlipidemias (POSCH). N Engl J Med 1990; 323: 946-55.
72. Starzl TE, Putnam CW, Koep LJ: Portocaval shunt in hyperlipopro- teinaemia. Lancet 1973; 2: 940-4.
73. Ibrahim M, El-Hamamsy I, Barbir M, Yacoub MH: Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J Car-diovasc Transl Res 2012; 5: 351-8.
74. Rader DJ, Kastelein JJ: Lomitapide and Mipomersen: Two First-in-class drugs for reducing Low-Density Lipoprotein Cholesterol in patients with homozygous familial hypercholesterolemia. Circulation 2014; 129: 1022-32.
75. Cuchel M, Meagher EA, du Toit Theron H, et al.: Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a singlearm, open-label, phase 3 study. Lancet 2013; 381: 40-6.
76. Visser ME, Witztum JL, Stroess ES, Kastelein JJ: Antisense oligo-nucleotides for the treatment of dyslipidaemia. Eur Heart J 2012; 33: 1451-8.
77. Vogt A, Parhofer KG: The potential of mipomersen, an ApoB synthesis inhibitor, to reduce necessity for LDL-apheresis in patients with heterozygous familial hypercholesterolemia and coronary artery disease. Expert Opin Pharmacother 2013; 14: 691-7.
78. Gelsinger C, Steinhagen-Thiessen E, Kassner U: Therapeutic potential of mipomersen in the management of familial hypercholes-terolaemia. Drugs 2012; 72: 1445-55.
79. Horton JD, Cohen JC, Hobbs HH: PCSK9: a convertase that coordinates LDL catabolism, J Lipid Res 2009, 50: 172-7.
80. Cohen JC, Boerwinkle E, Mosley TH jr, Hobbs HH: Sequence variations in PCSK9, Low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354: 1264-72.
81. Stein EA, Swergold GD: Potential of proprotein convertase subtili-sin/kexin type 9 based therapeutics. Curr Atheroscler Rep 2013; 15: 310.
82. Raal F, Scott R, Somaratne, et al.: Low-density lipoprotein cholesterol-lowering effects of AMG 142, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 Inhibition in heterozygous familial hypercholesterolemia disorder (RUTHERFORD) randomized trial. Circulation 2012; 20: 2408-17.
83. Stein EA, Gipe D, Bergeron J, et al.: Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density li-poprotein cholesterol in patients with heterozygous familial hyper-cholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial. Lancet 2012; 380: 29-36.
84. Blom DJ, Hala T, Bolognese M, et al.: A 52-week placebo-controlled trial of Evolocumab in hyperlipidemia. NEJM 2014 online 2014 doi: 10.1056/ NEJMoa1316222ia.
85. Koren MJ, Giugliano R P, Raal FJ, et al.: Efficacy and safety of longer-term administration of evolocumab (AMG 145) in patients with hypercholesterolemia: 52-week results from the open-label study of long-term evaluation against LDL-C (OSLER) randomized trial. Circulation 2014; 129: 234-43.
86. Lind S, Olsson AG, Erikkson M, Rudling M, Eggertsen G, Angelin B: Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment. J Intern Med 2004; 256: 406-12.
87. Gagné C, Gaudet D, Bruckert E: Safety of Ezetimibe coadministe-red with Atorvastatin or Simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002; 105: 2469-75.
88. Walzer S, Travers K, Rieder S, Erazo-Fischer E, Matusiewicz D: Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey. Clinicoecon Outcomes Res 2013; 5: 189-92.