TY  - JOUR
T1  - Ailevi Hiperkolesterolemi: Epidemiyoloji, Genetik, Tanı Ve Tedavisi
AU  - Göçer, Hakan
AU  - Günday, Murat
AU  - Durukan, Ahmet Barış
PY  - 2022
DA  - July
JF  - Klinik Tıp Bilimleri
JO  - Klinik Tıp Bilimleri
PB  - Selen Medya Yayıncılık Tanıtım ve Organizasyon Hizmetleri
WT  - DergiPark
SN  - 2147-494X
SP  - 62
EP  - 66
VL  - 8
IS  - 2
LA  - tr
AB  - Lipoprotein 2 metabolizmasının genetik bir bozukluğu olan ailevi hiperlipidemiartmış kolesterol seviyeleri ve erken gelişen kardiyovasküler hastalıklarla kendini gösterir.Homozigot ve heterozigot formları mevcut olup, özellikle fenotipik hafif formuolan heterozigot tip klinik tanıda genellikle göz ardı edilmektedir. Tanı laboratuvartestleri, fenotipik değerlendirme ve genetik mutasyon analizleri ile yapılmaktadır.Tedavide yükselmiş düşük dansiteli kolesterol seviyesinin düşürülmesi amaçlanır.Yöntem olarak statinlerden afereze, diyet, egzersize ve karaciğer nakline kadargeniş bir yelpaze bulunmaktadır. Primer korumada ise hastaların genetik olaraksaptanması ve akraba evliliklerinin önlenmesi dışında yapılabilecek bir şey yoktur.Ülkemizde genetik mutasyonlar kısıtlı çalışmalarda araştırılmış, bu nedenle mutasyonsıklık ve çeşidi konusunda bilgimiz sınırlıdır. Bu derlemede bu hastalığın tanı,tedavi ve yönetimi konusunda güncel bilgiler verilmiştir.
KW  - Hiperlipidemiler
KW  - Lipoproteins
KW  - LDL; Therapeutics
CR  - 1. Regmi M, Rehman A. Familial Hyperlipidemia Type 1. Stat-
Pearls [Internet]. Treasure Island (FL): StatPearls Publishing;
2019.
CR  - 2. Taghizadeh E, Esfehani RJ, Sahebkar A, Parizadeh SM, Rostami
D, Mirinezhad M, Poursheikhani A, Mobarhan MG, Pasdar
CR  - A. Familial combined hyperlipidemia: An overview of the
underlying molecular mechanisms and therapeutic strategies.
IUBMB Life 2019;71:1221-29
CR  - 3. Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio
A, Fresa R, et al. Autosomal recessive hypercholesterolemia
CR  - (ARH) and homozygous familial hypercholesterolemia (FH):
A phenotypic comparison. Atherosclerosis 2006;188:398-405.
CR  - 4. Ceska R, Latkovskis G, Ezhov MV, Freiberger T, Lalic K, Mitchenko
O, Paragh G, Petrulioniene Z, Pojskic B, Raslova K,
CR  - Shek AB, Vohnout B, Altschmiedova T, Todorovova V. The Impact
CR  - of the International Cooperation On Familial Hypercholesterolemia
Screening and Treatment: Results from the ScreenPro
FH Project. Curr Atheroscler Rep 2019;21:36.
CR  - 5. Tilney M. Establishing a familial hypercholesterolaemia register
- The first year. Atheroscler Suppl 2019;36:24-27.
CR  - 6. Peng J, Wu X, Wang S, Zhang S, Wang X, Liu Z, Hong J, Ye
P, Lin. J. Familial hypercholesterolemia in China half a century:
CR  - A review of published literature. Atheroscler Suppl
2019;36:12-18.
CR  - 7. Lan NSR , Martin AC, Brett T, Watts GF, Bell DA, İmproving
the detection of familial hypercholesterolaemia. Pathology,
2019 Feb; 51(2):213-23
CR  - 8. Taghizadeh E, Mardani R, Rostami D, Taghizadeh H, Bazireh
H, Hayat SMG Molecularmechanisms, prevalence, and Molecular
CR  - methods for familial combined hyperlipidemia diseas
A review. J Cell Biochem 2019;120:8891-98
CR  - 9. Lan NSR, Martin AC, Brett T, Watts GF, Bell DA.Improving
the detection of familial hypercholesterolaemia. Pathology
2019;51:213 -21
CR  - 10. Schöb M, Müller P, Gerth Y, Korte W, Rickli H, Bffindle M,
Bklocher A, Bilz S. Diagnosis and Treatment of Familial
CR  - Hypercholesterolemia]. Praxis (Bern 1994). 2018
Nov;107(24):1345-1353. doi: 10.1024/1661-8157/a003134.
Review. German.
CR  - 11. Florentin M, Kostapanos MS, Elisaf MS, Liberopoulos EN. Prevalence,
Identificatio‘ând Scouting for Familial Hypercholesterolaemia
CR  - Including Registries. Curr Pharm Des.
2018;24(31):3605-15
CR  - 10.2174/1381612824666181009103440. Review
CR  - 12. Viigimaa M, Heinsar S, Lovic D, Katsimardou A, Piperidou
A, Duishvili D. 0">
CR  - New Horizons in the Pathogenesis, Pathophysiology and Treatment
of Familial Hypercholesterolaemia. Curr Pharm Des.
CR  - 2018;24(30:3599-04
10.2174/1381612824666181009105305. Review.
CR  - 13.Wu LL, Hopkins PN, XinY, Stephenson SH, Williams RR, Nobe
Y, et al. Co-segregation of elevated LDLwith a novel mutation
CR  - (D92K) of the LDL receptor in a kindred with multiple lipoprotein
abnormalities. J Hum Genet 2000;45:154-58.
CR  - 14. Civeira F, Jarauta E, Cenarro A, Gareia-etin AL, Tejedor D,
Zambon D, et al. Frequency of low-density lipoprotein receptor
CR  - gene mutations in patients with a clinical diagnosis of familial
combined hyperlipidemia in a clinical setting. J Am Coll
Cardiol 2008;52:1546-53.
CR  - 15.Marduel M, Carrie A, Sasssolas A, Devillers M, Carreau V,
Di Fill ippo M, et al. Molecular spectrum of autosomal dominant
CR  - 8 Türk Kardiyol Dern Arş hypercholesterolemia in France.
Hum Mutat 2010;31:E1811- 24
CR  - 15.Canadian Cardiovascular 'Society Position Statement on Familial
Hyperchollesterolemia: Update 2018.
CR  - 16.Guidelines for Diagnosis and Treatment of Familial Hypercollesterolemia
by japan Atherosclerosis Society 2017.
CR  - 17.Guidance on the management of familial hypercholesterolemia
in Hong Kong: an expert panel consensus viewpoint 2016
CR  - 18. Hurrell C, Wietlisbach V, Jotterand V, Volet M, Lenain V, Nicod
P, et al. High prevalence of major cardiovascular risk factors
CR  - in first-degree relatives of individuals with familial premature
coronary artery disease — the GENECARD project.
Atherosclerosis. 2007;194:253– 64.
CR  - 19. Daniels SR, Gidding SS, de Ferranti SD. National Lipid Association
Expert Panel on Familial Hypercholesterolemia. Pediatric
CR  - aspects of familial hypercholesterolemias: Recommendations
from the National Lipid Association Expert Panel on
CR  - Familial , OHypercholesterolemia. J Clin Lipidol. 2011;5(3
Suppl):S30-7.
CR  - 20.Wiegman A, Hutten BA, de Groot E, Rodenburg J, Bakker HD,
Büller HR, et al. Efficacy and safety of statin therapy in children
CR  - with familial hypercholesterolemia: A randomized controlled
trial. JAMA. 2004;292:331-7
CR  - 21. Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries
SE. Update and analysis of the University College London low
CR  - density lipoprotein receptor familial hypercholesteraeinia database.
Ann Hum Genet. 2008;72:485-98
CR  - 22. Soufi M, Kurt B, Schweer H, Sattler AM, Klaus G, Zschocke
J, et al. Genetics and kinetics of familial hypercholesterolemia,
CR  - with the special focus on FH-(Marburgr- p. W556R. Atheroscler
Suppl. 2009;10:5-11.
CR  - 23. Naoumova RP, Thompson GR, Soutar AK. Current management
of severe homozygous hypercholesterolaemias. Curr Opin
Lipidol. 2004;15:413-22.
CR  - 24.Marais AD. Familial hypercholesterolacmia. Clin Biochem Rev.
2004;25:49-68
CR  - 25. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader
DJ, Robinson JG, et al. National Lipid Association Expert Panel
CR  - on Familial Hypercholesterolemia. Familial hypercholesterolemia:
Screening, diagnosis and management of pediatric
CR  - and adult patients: Clinical guidance from the National Lipid
Association Expert Panel on Familial hypercholesterolemia.
J Am Coll Cardiol. 2008;52:1421-9.
CR  - 26. Bender R, Bell DA, I Iooper AJ, Edwards G, van Bockxmeer
FM, Watts GF, et al. Screening for fanıiliai hypercholesterolaemia.
Pathology. 2012;44:122-8.
CR  - 27. DeMott K, Nherera L, Shaw EJ, Minhas R, Humphries SE, Kathoria
M, et al. London: National Collaborating Centre for Primary
CR  - Care and Royal College of General Practitioners; 2008.
Clinical Guidelines and Fvidence Review for Familial hypereholesterolaemia:
CR  - The identification and management of adults
and children nith fanilial hyperecolesterolaemia. NICE Clinical
CR  - Guidelines, No. 71 Royal College of General Practitioners
(UK) 2008
CR  - 28.McGill HC, Jr, McMahan CA, Zieske AW, Malcom GT,
Tracy RE, Strong JP. Effects of nonlipid risk factors on atherosclerosis
in youth with a favorable lipoprotein profıle. Circulation.
2001;103:1546-50
CR  - 29. Garcia-Garcia AB, Ivorra C, Martinez-Hervas S, Blesa S, Fuentes
MJ, Puig O, et al. Reduced penetrance of autosomal dominant
CR  - hypercholesterolemia in a high percentage of families:
Importance of genetic testing in ille entire family. Atherosclerosis.
2011;218:423-3
CR  - 30. Civeira F. International Panel on Management of Familial
Hypercholesterolemia.Guidelines for the diagnosis and management
CR  - of heterozygous familialhypercholesterolemia. AtheroSclerosis.
2004;173:55-68.
CR  - 31. Van der Graaf A, Cuffıe-Jackson C, Vissers MN, Trip MD,
GagnĞ C, Shi G, et al. Efficacy and safety of coadministration
CR  - of ezetimibe and simvastatin in adolescents with heterozygous
familial hypercholesterolemia. J Am Coll Cardiol.
2008;52:1421-9.
CR  - 32. Clauss S, Wai KM, Kavey RE, Kuehl K. Ezetimibe treatment
of pediatric patients with hypercholesterolemia. J Pediatr.
2009;154:869-72.
CR  - 33. Gagne C, Gaudet D, Bruckert E Ezetimibe Study Group. Efficacy
and safety of ezetimibe coadministered with atorvastatin
CR  - or simvastatin in patients with homozygous familial
hypercholesterolemia. Circulation. 2002;105:2469-75.
CR  - 34. Kastelein JJP, Akdim F, Stroes ES, Zwinderman AH, Bots ML,
Stalenhoef AF, et 45. Stein EA, Mellis S, Yancopoulos GD, Stahl
CR  - N, Logan D, Smith WB, et al. Effect of a monoclonal antibody
to PCSK9 on LDL cholesterol. N Engl J Med. 2012;366:1108-18.
CR  - 35. Graham MJ, Lemonidis KM, Whipple CP, Subramaniam A,
Monia BP, Crooke ST, et al. Antisense inhibition of proprotein
CR  - convcrtase subtilisinikexin type 9 reduces serum LDL in
hyperlipidemic mice. J Lipid Res. 2007;48:763-7.
CR  - 36. Roth EM, McKenney JM, Hanotin C, Asset G, Stein EA. Atorvastatin
with or without an antibody to PCSK9 in primary
hypercholesterolemia. N Engl J Med. 2012;367:1891-900.
CR  - 37. Sjouke B, Kusters DM, Kastelein JJ, Hovingh GK. Familial
hypercholesterolemia: Prent and future management. Curr Cardiol
Rep. 2011;13:527-36
CR  - 38. Cuchel M, Blocdon LT, Szapary PO, Kolansky DM, Wolfe ML,
Sarkis A, et al. Inhibition of microsomal triglyceride transfer
CR  - protein in familial hypercholesterolemia. N Engl J Med.
2007;356:148-56.
CR  - 39. Ishigaki Y, Kawagishi N, Hasegawa Y, Sawada S, Katagiri H,
Satomi S, Oikawa S. Liver Transplantation for Homozygous
CR  - Familial Hypercholesterolemia. J Atheroscler Thromb. 2019
Feb 1;26(2):121-127. doi: 10.5551/jat.RV17029. Epub 2018
Dec 15. Review
CR  - 40. Parham JS, Goldberg AC. Mipomersen and its use in familial
hypercholesterolemia. Expert Opin Pharmacother. 2019
CR  - Feb;20(2):127-131. doi: 10.1080/14656566.2018.1550071.
Epub 2018 Dec 10. Review.
CR  - 41. Kinnear FJ, Wainwright E, Bourne JE, Lithander FE, Hamilton-
Shield J, Searle A. The development of a theory informed
CR  - behaviour change intervention to improve adherence to dietary
and physical activity treatment guidelines in individuals
CR  - with familial hypercholesterolaemia (FH). BMC Health Serv
Res. 2020 Jan 8;20(1):27. doi: 10.1186/s12913-019-4869-4.
CR  - 42. Perez-Calahorra S, Civeira F, Guallar-Castillón P, Pinto X,
Banegas JR, Pedro-Botet J, Suarez-Tembra M, Mauri M, Soler
CR  - C, Rodriguez-Artalejo F, Laclaustra M. Behavioural cardiovascular
risk factors and prevalence of diabetes in subjects
CR  - with familial hypercholesterolaemia. Eur J Prev Cardiol. 2020
Jan 8:2047487319896138. doi: 10.1177/20474873198
UR  - https://dergipark.org.tr/tr/pub/ktb/issue//906349
L1  - https://dergipark.org.tr/tr/download/article-file/1672953
ER  -