Ailesel Hiperkolesterolemili Hastalarda Diyet ve Sağlıklı Yaşamın Kardiyovasküler Bozukluklar Üzerine Etkisi


DOI:
https://doi.org/10.5281/zenodo.15709449Anahtar Kelimeler:
Ailesel hiperkolesterolemi, diyet, kardiyovasküler hastalıklar, kolesterolÖzet
Çağımızda hala yeteri kadar teşhis edilememiş olan ailesel hiperkolesterolemi (FH), küresel ölüm oranlarının en çok olduğu aterosklerotik kardiyovasküler hastalık riskinin önemli etkenlerinden biridir (Abifadel ve Boileau, 2022). Her 500 kişiden birinin FH’ li olduğu tahmin edilmektedir. Bu sebeple ailesel hiperkolesterolemiyi erken teşhis etmek ve düşük yoğunluklu lipoprotein (LDL) serum plazma değerlerini normal değerlere çekmek FH 'li hastalarda oluşabilecek kardiyovasküler hastalıkları engellemekte çok önemlidir (Brandts ve Ray, 2011). Ailesel hiperkolesterolemi, genelde düşük yoğunluklu lipoprotein reseptörleri (LDL-R), apolipoprotein B (ApoB), Proprotein Konvertaz Subtilisin/Keskin Tip 9 (PCSK9) genlerinde meydana gelen mutasyonların otozomal dominant formlarından kaynaklanmaktadır. Ailesel hiperkolesterolemi yeryüzünde prevalansı yüksek olan hastalıklar arasında yer almaktadır. Ayrıca FH, nadiren de olsa apolipoprotein E (ApoE) ve düşük yoğunluklu lipoprotein reseptör adaptör protein (LDRAP1) genlerinin mutasyona uğramasıyla meydana gelebilmektedir. Bu anomali nedeniyle bozulan serum plazma kolesterol seviyeleri normalin üzerinde LDL değerleri olarak ortaya çıkabilmektedir (Tokgözoğlu ve Kayıkçıoğlu, 2011). Yaşamın ilerleyen dönemine göre FH' li çocuklara erken dönemde uygulanan düşük yoğunluklu lipoprotein kolesterol (LDL-C) dengeleme tedavilerinin daha etkin olduğu ve yetişkinlik döneminde aterosklerotik kardiyovasküler olumsuz etkiyi azaltabileceği düşünülmektedir. Erken tanıyla yaşam tarzındaki değişiklikler yetersiz kaldığında pediatrik dönemde özellikle Homozigot FH 'li hastalarda veya Heterezigot FH 'li hastalarda LDL-C değerini düşüren farmokolojik statin tedavisi uygulanabilmektedir (Knipscheer ve ark., 1996; Stein ve ark., 1999). Ayrıca egzersizle beraber, sağlıklı beslenmenin ve sigara içmemenin kardiyovasküler negatif etkiyi azaltmakta önemli olduğu düşünülmektedir. Bununla beraber doymamış yağ asitlerinden düşük diyetle beslenme ile ilgili akıllarda soru işaretleri vardır (Diamond ve ark., 2020).
Referanslar
Abifadel, M. , Boileau, C. (2022). Genetic and molecular architecture of familial hypercholesterolemia. J Intern Med. 293(2):144–65. WILLEY erişim adresi: https://onlinelibrary.wiley.com/doi/10.1111/joim.13577
Abul-Husn, N.S., Manickam, K., Jones, L.K., (2016). Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science (New York, NY). 354(6319). SCIENCEDIRECT erişim adresi: https://www.science.org/doi/10.1126/science.aaf7000?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Aguie, G.A. , Rader, D.J. , Clavey, V., ve ark. (1994). Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization. Atherosclerosis. 118: 183-91. ATHEROSCLEROSIS erişim adresi: https://www.atherosclerosis-journal.com/article/0021-9150(95)05605-X/pdf
Amemiya, S. , Dobashi, K. , Urakami, T. , ve ark. (2007). Metabolic syndrome in youths. Pediatr Diabetes, 8 Suppl 9: 48-54. WILEY erişim adresi: https://onlinelibrary.wiley.com/doi/10.1111/j.1399-5448.2007.00332.x
Andersan, L.H., Miserez, A.R., Ahmad, Z., ve ark. (2016). Familial defective apolipoprotein B-100: a review. Journal of Clinical Lipidology, Volüme 10, Issue 6. LIPIDJOURNAL erişim adresi: https://www.lipidjournal.com/article/S1933-2874(16)30339-7/fulltext
Antoniades, C., Tousoulis, D., Vasiliadou, C., ve ark. (2004) Combined effects of smoking and hypercholesterolemia on inflammatory process, thrombosis/fibrinolysis system, and forearm hyperemic response. Am J Cardiol . 94:1181–4. AJC erişim adresi: https://www.ajconline.org/article/S0002-9149(04)01173-7/fulltext
Baigent, C., Blackwell, L., Emberson, J., ve ark. (2010). Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet. 376(9753):1670-81. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC2988224/
Baldassarre, D., Mores, N., Colli, S., ve ark. (1997). Platelet alpha 2-adrenergic receptors in hypercholesterolemia: relationship between binding studies and epinephrine-induced platelet aggregation. Clin Pharmacol Ther. 61:684–91. ASCPT erişim adresi: https://ascpt.onlinelibrary.wiley.com/doi/abs/10.1016/S0009-9236%2897%2990104-1?sid=nlm%3Apubmed
Banerjee, P., Chan, K.C., Tarabocchia, M., ve ark. (2019). Functional analysis of LDLR (low density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity. Arterioscler Thromb Vasc Biol. 39(11):2248–60. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC6818983/
Banegas, J., Lopez-Garcia, E., Dallongeville, J., ve ark. (2011). Achievement of treatment goals for primary prevention of cardiovascular disease in clinical practice across Europe: the EURIKA study. European Heart Journal, Volume 32, Issue 17, Pages 2143–2152. OXFORD erişim adresi: https://academic.oup.com/eurheartj/article/32/17/2143/502387
Benn, M. (2009). Apolipoprotein B levels, ApoB alleles, and risk of ischemic cardiovascular disease in the general population, a review. Atherosclerosis, Volume 206, Issue 1. 17-30. ATHEROSCLEROSIS erişim adresi: https://www.atherosclerosis-journal.com/article/S0021-9150(09)00013-6/fulltext
Berberich, A.J., Hegele, R.A. (2019). The complex molecular genetics of familial hypercholesterolaemia. Nature reviews Cardiology. 16(1):9-20. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/29973710/
Beroud, C., Hamroun, D., Collod-Beroud, G., ve ark. (2005). UMD (Universal Mutation Database): 2005 update. Hum Mutat. 26 (3): 184–91. WILEY erişim adresi: https://onlinelibrary.wiley.com/doi/10.1002/humu.20210?saml_referre
Berryman, C.E., West, S.G., Fleming, J.A., ve ark. (2015). Effects of daily almond consumption on cardiometabolic risk and abdominal adiposity in healthy adults with elevated LDL-cholesterol: A randomized controlled trial. J. Am. Heart Assoc. a4: e000993. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC4330049/
Braamskamp, M.J., Kusters, D.M., Wiegmann, A., ve ark. (2015). Gonadal steroids, gonadotropins and DHEAS in young adults with familial hypercholesterolemia who had initiated statin therapy in childhood. Atherosclerosis 241(2):427‐32. ATHEROSCLEROSIS erişim adresi: https://www.atherosclerosis-journal.com/article/S0021-9150(15)01348-9/abstract
Brandts, J., Ray, K.K. (2021). Familial hypercholesterolemia: JACC Focus Seminar. J Am Coll Cardiol. 78(18):1831-43. SCIENCEDİRECT erişim adresi: https://www.sciencedirect.com/science/article/pii/S0735109721061131?via%3Dihub
Brown, M.S., Goldstein, J.L. (1979). Receptor-mediated endocytosis: insights from the lipoprotein receptor system Proc Natl Acad Sci USA, 76. 3330-7. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC383819/
Brown, M. S., Goldstein, J.L. (1986). A receptor-mediated pathway for cholesterol homeostasis. Science. 232(4746):34-47. SCIENCE erişim adresi: https://www.science.org/doi/10.1126/science.3513311?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Carmeliet, P. (2003). Angiogenesis in health and disease. Nat Med. 9(6):653-60. NATURE erişim adresi: https://www.nature.com/articles/nm0603-653
Carvalho, A.C., Colman, R.W., Lees, R.S. (1974). Platelet function in hyperlipoproteinemia. N Engl J Med. 290:434–8. NEJM erişim adresi: https://www.nejm.org/doi/10.1056/NEJM197402212900805?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Catapano, A.L., Graham, I., De Backer, G., ve ark. (2016). ESC/EAS guidelines for the management of dyslipidaemias. Eur Heart J, 37, pp. 2999-3058. OXFORD erişim adresi: https://academic.oup.com/eurheartj/article/37/39/2999/2414995
Chana, D.C., Panga, J., Barrett, P.H.R., ve ark. (2016). Effect of omega-3 fatty acid supplementation on arterial elasticity in patients with familial hypercholesterolaemia on statin therapy. Full length article, Volume 26, Issue 12. 1140-5. NMCD erişim adresi: https://www.nmcd-journal.com/article/S0939-4753(16)30119-3/fulltext
Chora, J.R., Medeiros, A.M., Alves, A.C., ve ark. (2021). Genomics of Rare Diseases, 2021. Clinical DNA Variant Interpretation Theory and Practice Translational and Applied Genomics. Pages 323-348. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/science/article/abs/pii/B9780128205198000193
Clauss, S.B., Holmes, K.W., Hopkins, P., ve ark. (2005). Pediatrics Efficacy and safety of lovastatin therapy in adolescent girls with heterozygous familial hypercholesterolemia. Pediatrics 116(3):682‐8. AAP erişim adresi: https://publications.aap.org/pediatrics/article-abstract/116/3/682/68395/Efficacy-and-Safety-of-Lovastatin-Therapy-in?redirectedFrom=fulltext
Clevidence, B.A., Judd, J.T., Schaefer, E.J., ve ark. (1997). Plasma lipoprotein (a) levels in men and women consuming diets enriched in saturated, cis-, or trans-monounsaturated fatty acids. Arterioscler. Thromb. Vasc. Biol. 17:1657–1661. AHA erişim adresi: https://www.ahajournals.org/doi/10.1161/01.atv.17.9.1657?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Critchley, S., Sharifi M., Qureshi, J., ve ark. (2021). A focus on familial hypercholesterolaemia (FH). Heart UK The Cholesterol Charity Presentation. HEARTUK erişim adresi: https://www.heartuk.org.uk/downloads/health-professionals/tackling-cholesterol-together/slides---a-focus-on-familial-hypercholesterolaemia-(fh).pdf
Collins, R., Reith, C., Emberson, J., ve ark. (2016). Interpretation of the evidence for the efficacy and safety of statin therapy. Lancet. 388(10059):2532–2561. THELANCET erişim adresi: https://www.thelancet.com/article/S0140-6736(16)31357-5/fulltext
Defesche, J. (2010). Defining the challenges of FH screening for familial hypercholesterolemia. NLA Symposium on Familial Hypercholesterolemia. Volume 4, Issue 5p:338-41 LIPIDJOURNAL erişim adresi: https://www.lipidjournal.com/article/S1933-2874(10)00318-1/fulltext
DeMott, K., Nherera, L., Shaw E.J., ve ark. (2019). National institute for health and clinical excellence clinical guidelines and evidence eeview for familial hypercholesterolemia: the identification and management of adults and children with familial hypercholesterolemia (Clinical guideline 71). London: National Collaborating Centre for Primary Care and Royal College of General Practitioners. PUBMED erişim adresi: https://www.ncbi.nlm.nih.gov/books/NBK552672/
Diamond, D.M., Alabdulgader, A.A., Lorgeril, M., ve ark. (2020). Dietary recommendations for familial hypercholesterolaemia: an evidence-free zone. BMJ Evid Based Med. 26(6):295–301. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC8639944/
Dominguez, L., Veronese, N., Laura V., ve ark. (2021). Nutrition, Physical Activity, and Other Lifestyle Factors in the Prevention of Cognitive Decline and Dementia. Nutrients. 13(11):4080. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC8624903/
Du, F., Hui, Y., Zhang, M., ve ark. (2011). Novel domain interaction regulates secretion of Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) protein. J Biol Chem. 286(50): 43054-61. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC3234880/
DuBroff, R., de Lorgeril, M. (2021). Fat or fiction: the diet-heart hypothesis. BMJ Evid Based Med; 26:3–7. BMJ erişim adresi: https://ebm.bmj.com/content/26/1/3.long
ER, T.T., Chen, X., Campos, J.M.M. (2013). Basic mechanisms: structure, function and metabolism of plasma lipoproteins. Clinic and Research in Arteriosclerosis, Volume 25, Issue 2. 98-103. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/science/article/abs/pii/S0214916813000314?via%3Dihub
Faghihnia, N., Tsimikas, S., Miller, E.R., ve ark. (2010). Changes in lipoprotein(a), oxidized phospholipids, and LDL subclasses with a low-fat high-carbohydrate diet. J. Lipid Res. 51:3324–3330. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC2952573/
Farzam, K., Zubair, M., Senthilkumaran, S. (2024). Lipoprotein A. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/34033383/
Feinman, R.D., Pogozelski, W.K, Astrup, A., ve ark. (2015). Dietary carbohydrate restriction as the first approach in diabetes management: critical review and evidence base. Nutrition. 31:1–13. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/science/article/pii/S0899900714003323?via%3Dihub
Goldstein, J.L., Brown, M.S. (1979). The LDL receptor locus and the genetics of familial hypercholesterolemia. Annu Rev Genet. 13:259-89. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/231932/
Goldstein, J.L., Brown, M.S., Anderson, R.G., ve ark. (1985). Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol. 1: 1–39. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/2881559/
Haase, A., Goldberg, A.C. (2012). Identification of people with heterozygous familial hypercholesterolemia. Current Opinion in Lipidology. 23(4): p 282-9. JOURNALS erişim adresi:https://journals.lww.com/co-lipidology/abstract/2012/08000/identification_of_people_with_heterozygous.4.aspx
Harada-Shiba, M., Arai, H., Ishigaki, Y., ve ark. (2018). Guidelines for diagnosis and treatment of familial hypercholesterolemia. J Atheroscler Thromb. 25(8):751–70. J-STAGE erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC6099072/#bib59
Hartgers, M.L., Ray, K. K., Hovingh, G. K. (2014). New approaches in detection and treatment of familial hypercholesterolemia. Current Cardiology Reports, 17, 109. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC4611021/
Harvard T.H. Chan School of Public Health (2024). The Nutritio Source. HARVARD erişim adresi:https://nutritionsource.hsph.harvard.edu/what-should-you-eat/fats-and-cholesterol/types-of-fat/
Haskell, W.L., Sims, C., Myll, J. (1993) Coronary artery size and dilating capacity in ultradistance runners. Circulation. 87(4):1076-82. AHA erişim adresi: https://www.ahajournals.org/doi/10.1161/01.cir.87.4.1076?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Humphries, S.E., Norbury, G., Leigh, S., ve ark. (2008). What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol. 19:362–8. JOURNALS erişim adresi:https://journals.lww.com/co-lipidology/fulltext/2008/08000/what_is_the_clinical_utility_of_dna_testing_in.7.aspx
Ibrahim, M.A. , Asuka, E. , Jialal, I. (2023). Hypercholesterolemia. StatPearls. PUBMED erişim adresi: https://www-ncbi-nlm-nih-gov.translate.goog/books/NBK459188/?_x_tr_sl=auto&_x_tr_tl=tr&_x_tr_hl=tr&_x_tr_pto=wapp
Jacobson, T.A., Maki, K.C., Orringer, C.E., ve ark. (2015). NLA Expert Panel. National Lipid Association recommendations for patient-centered management of dyslipidemia: part 2. J Clin Lipidol. S1-122.e1. LIPIDJOURNAL erişim adresi: https://www.lipidjournal.com/article/S1933-2874(15)00380-3/fulltext
Jansen, A.C., Van Wissen, S., Defesche, J.C., ve ark. (2002). Phenotypic variability in familial hypercholesterolaemia: an update. Curr Opin Lipidol 13 (2): 165–71. JOURNALS erişim adresi: https://journals.lww.com/colipidology/fulltext/2002/04000/phenotypic_variability_in_familial.8.aspx
Jongh, S., Lilien, M.R., op't Roodt, J., ve ark. (2002). Early statin therapy restores endothelial function in children with familial hypercholesterolemia. Journal of the American College of Cardiology 40(12):2117‐21. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/science/article/pii/S0735109702025937?via%3Dihub
Khera, A.V., Won, H.H., Peloso, G.M., ve ark. (2016). Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol. 67(22):2578-89. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC5405769/
Kirkpatrick, C.F., Maki, K.C. (2021). Dietary influences on atherosclerotic cardiovascular disease risk. Curr Atheroscler Rep. 23:62. SPRINGER erişim adresi: https://link.springer.com/article/10.1007/s11883-021-00954-z
Knipscheer HC, Boelen CC, Kastelein J.J., ve ark. (1996). Short‐term efficacy and safety of pravastatin in 72 children with familial hypercholesterolemia. Pediatric Research;39(5):867‐71. NATURE erişim adresi: https://www.nature.com/articles/pr19962540
Mabuchi, H., Koizumi, J., Shimizu, M., ve ark. (1989). Development of coronary heart disease in familial hypercholesterolemia. Circulation. 79(2):225‐32. AHAJOURNALS erişim adresi: https://www.ahajournals.org/doi/epdf/10.1161/01.CIR.79.2.225
Mach, F., Baigent, C., Catapano, A.L., ve ark. (2020). ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk Eur Heart J. 41:111-188. OXFORD ACADEMİC erişim adresi: https://academic.oup.com/eurheartj/article/41/1/111/5556353?login=false
Malhotra, A., Shafiq, N., Arora, A., ve ark. (2014). Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia. Cochrane Database Syst Rev. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC7063855/
Marks, D., Thorogood, M., Neil, H.A.W. (2003). Humphries S.E. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 168(1):1-14. ATHEROSCLEROSIS erişim adresi: https://www.atherosclerosis-journal.com/article/S0021-9150(02)00330-1/abstract
Medeiros, A.N., Alves, A.C., Miranda, B., ve ark. (2024). Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype. JLR, Volume 65, Issue 2, 100490. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/science/article/pii/S0022227523001633
Mensink, RP. (2016). Effects of saturated fatty acids on serum lipids and lipoproteins: a systematic review and regression analysis. World Health Organization, Geneva, 15-30. WHO erişim adresi: https://iris.who.int/bitstream/handle/10665/246104/9789241565349-eng.pdf
McCrindle, B.W., Ose. L., Marais, A.D. (2003). Efficacy and safety of atorvastatin in children and adolescents with a familial hypercholesterolemia or severe hyperlipidemia: A multicenter, randomized, placebo‐controlled trial. Journal of Pediatrics;143(1):74‐80. JPEDS erişim adresi: https://www.jpeds.com/article/S0022-3476(03)00186-0/abstract
Mihaylova, B., Emberson, J., Blackwell, L., ve ark. (2012). The effects of lowering LDL cholesterol with statin therapy in people at low risk of vascular disease: meta-analysis of individual data from 27 randomised trials. Lancet. 380(9841):581–590. PUBMED erişim adresi: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(16)31357-5/fulltext
Moore, K., Sheedy, F., Fisher, E. (2013). Macrophages in atherosclerosis: a dynamic balance. Nat Rev Immunol. 13(10):709–721. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC4357520/
Muller C (1939). Angina pectoris in hereditary xanthomatosis. Arch Intern Med. 64:675–700. JAMA erişim adresi: https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/545062
Neil A., Cooper J., Betteridge J., ve ark. (2008). Reductions in all-cause, ancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J. 29:2625–33. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC2577142/
Nieman, D.C. (2003). Current perspective on exercise immunology. Curr Sports Med Rep. 2(5):239-42. JOURNALSWW erişim adresi: https://journals.lww.com/acsm-csmr/abstract/2003/10000/current_perspective_on_exercise_immunology.1.aspx
Park, S.W. , Moon, Y.A. , Horton, J.D. (2004). Post-transcriptional regulation of low density lipoprotein receptor protein by Proprotein Convertase Subtilisin/Kexin type 9a in mouse liver. J Biol Chem. 279(48): 50630-38. JBC erişim adresi: https://jbc.org/article/S0021-9258(20)67860-7/fulltext
Pearson, G.J. , Thanassoulis, G. , Anderson, T.J. , ve ark. (2021). 2021 Canadian cardiovascular society guidelines for the management of dyslipidemia for the prevention of cardiovascular disease in adults. Can J Cardiol, Volume 37, Issue 8. 1189-50. CJC erişim adresi: https://onlinecjc.ca/article/S0828-282X(21)00165-3/fulltext
Piironen, V., Lindsay, D.G., Miettinen, T.A., ve ark. (2000). Plant sterols: biosynthesis, biological function and their importance to human nutrition. J Sci Food Agric. 80, 939-66. WILLEY erişim adresi: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291097-0010%2820000515%2980%3A7%3C939%3A%3AAID-JSFA644%3E3.0.CO%3B2-C
Pimstone, S.N. , Sun, X.M. , Du Souich, C. , ve ark. (1998). Phenotypic variation in heterozygous familial Hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arterioscler Thromb Vasc Biol 18 (2): 309–15. AHAJOURNALS erişim adresi: https://www.ahajournals.org/doi/10.1161/01.atv.18.2.309?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed,
Poirier, S., Mayer, G., Poupon, V., ve ark. (2009). Dissection of the endogenous cellular pathways of PCSK9-induced low density lipoprotein receptor degradation: Evidence for an intracellular route. The Journal of Biological Chemistry, 284, 28856–64. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC2781431/
Poupon, V. , Girard, M. , Legendre-Guillemin, V., ve ark. (2008). Clathrin light chains function in mannose phosphate receptor trafficking via regulation of actin assembly. Proc Natl Acad Sci USA. 105(1): 168-73. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC2224180/
Rashid, S. , Curtis, D.E. , Garuti, R. , ve ark. (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci U S A. 102(15):5374–79. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC556275/
Risk of Fatal Coronary (1991). Scientific steering committee on behalf of the Simon Broome Register Group. BMJ. 303(6807):893–6. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC1671226/
Roy-Chowdhury, N. , Roy-Chowdhury, J. (2019).Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 9. Edition. 124. SCIENCEDIRECT erişim adresi: https://sciencedirect.com/topics/medicine-and-dentistry/ldl-receptor
Ruuth, M., Äikäs, L., Tigistu-Sahle, F., ve ark. (2020). Plant stanol esters reduce LDL (low-Density lipoprotein) aggregation by altering LDL surface lipids. The BLOOD FLOW randomized intervention study. Arterioscler Thromb Vasc Biol. 40:2310–21. AHA erişim adresi: https://www.ahajournals.org/doi/full/10.1161/ATVBAHA.120.314329?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org
Sacks, F.M. , Lichtenstein, A.H. , Wu, J.H.Y. , ve ark. (2017). American Heart Association. Dietary fats and cardiovascular disease: a presidential advisory from the American Heart Association Circulation. 136:e1-e23. 136(10):e195. AHA erişim adresi: https://www.ahajournals.org/doi/10.1161/CIR.0000000000000510?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Seed, M. , Hoppichler, F. , Reaveley, D. , ve ark. (1990). Relationship of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype with coronary heart disease in patients with familial hypercholesterolemia.N Engl J Med. 322:1494–9. NEJM erişim adresi: https://www.nejm.org/doi/10.1056/NEJM199005243222104?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov
Schumaker, V.N. , Phillips, M.L. , Chatterton, J.E. (1994). Apolipoprotein B and low density lipoprotein structure: implications for biosynthesis of triglyceride rich lipoproteins. Adv Protein Chem. 45:205-48. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/8154370/
Scriver, C.R. , A.L. Beaudet, A.L., Valle, D. , ve ark. (2001). The metabolic and molecular bases of inherited diseases (8th ed.), McGraw-Hill, New York. 2705-16. OMMBID erişim adresi: https://ommbid.mhmedical.com/book.aspx?bookID=2709
Shafiq, N., Bhasin, B., Pattanaik, S., ve ark. (2007). A meta‐analysis to evaluate the efficacy of statins in children with familial hypercholesterolemia. International Journal of Clinical Pharmacology and Therapeutics 2007;45(10):548‐55. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/17966840/
Shapiro, M.D., Tavori, H., & Fazio, S. (2018). PCSK9: From basic science discoveries to clinical trials. Circulation Research, 122, 1420–1438. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC5976255/
Simonen, P., Nylund, L., Vartiainen, E. ve ark. (2024). Heart-healthy diets including phytostanol ester consumption to reduce the risk of atherosclerotic cardiovascular diseases. A clinical review. Lipids Health Dis.23:341. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC11492639/
Singh, P.K. , Gupta, M.K. , Nath, R.(2023). Treatments, Nutraceuticals, Supplements, and Herbal Medicine in Neurological Disorders. 285-301. SCIENCEDIRECT erişim adresi: https://www.sciencedirect.com/topics/neuroscience/eicosanoid
Snetselaar, L.G., Jesus, J.M. , DeSilva, D.M. , ve ark. (2021). Dietary Guidelines for Americans, 2020–2025. Nutr Today. 56(6):287–95. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC8713704/
Stein E.A., Illingworth D.R., Kwiterovich Jr. P.O., ve ark. (1999). Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia. 281(2):137‐44. JAMA erişim adresi: https://jamanetwork.com/journals/jama/fullarticle/188353
Strøm, T.B. , Tveten, K. ,Leren, T.P. (2014). PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum. Biochem J. 457(1): 99-105. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC4611021/
Tokgozoglu, L. , Kayikcioglu, M. (2021). Familial hypercholesterolemia: global burden and approaches.Curr Cardiol Rep. 23(10):151. SPRINGERLINK erişim adresi: https://link.springer.com/article/10.1007/s11886-021-01565-5
Valente, A.F.B. , Jaspers, R.T. , Wüst, R.C. (2021). Regular physical exercise mediates the immune response in atherosclerosis.Exerc Immunol Rev. 27:42-53. ISIE erişim adresi: http://eir-isei.de/2021/eir-2021-042-article.pdf
Varret, M. , Rabes, J.P. , Collod-Beroud, G., et al (1997). Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res. 25 (1): 172–80. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC146377/
Volek, J.S., Phinney, S.D., Forsythe, C.E., ve ark. (2009). Carbohydrate restriction has a more favorable impact on the metabolic syndrome than a low fat diet. Lipids. 44:297–309. SPRINGER erişim adresi: https://link.springer.com/article/10.1007/s11745-008-3274-2
Vuorio, A. , Watts, G.F. , Kovanen, P.T. , ve ark. (2017). Depicting new pharmacological strategies for familial hypercholesterolaemia involving lipoprotein (a). European Heart Journal, Volume 38, Issue 48. 3555–9. OXFORD ACADEMIC erişim adresi: https://academic.oup.com/eurheartj/article-abstract/38/48/3555/4318809?redirectedFrom=fulltext&login=false
Wester, I., (2000). Cholesterol-lowering effect of plant sterols. Eur J Lipid Sci Technol. 102, 37-44. WILLEY erişim adresi: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291438-9312%28200001%29102%3A1%3C37%3A%3AAID-EJLT37%3E3.0.CO%3B2-1
Westman, E.C., Yancy, W.S., Olsen, M..K., ve ark. (2006). Effect of a low-carbohydrate, ketogenic diet program compared to a low-fat diet on fasting lipoprotein subclasses. Int J Cardiol. 110:212–6. CARDIOLOGY erişim adresi: https://www.internationaljournalofcardiology.com/article/S0167-5273(05)01166-6/fulltext
Williams, R.R. , Hunt, S.C., Schumacher, M.C., ve ark. (1993).Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics.Am J Cardiol. 72(2):171-6. AJCONLINE erişim adresi: https://www.ajconline.org/article/0002-9149(93)90155-6/abstract
World Health Organization (1999). Familial hypercholesterolemia—report of a second WHO consultation. Geneva, Switzerland. SCRIP erişim adresi: https://www.scirp.org/reference/referencespapers?referenceid=1176402
Wood, R.J., Volek, J.S., Davis, S.R., ve ark. (2006). Effects of a carbohydrate-restricted diet on emerging plasma markers for cardiovascular disease. Nutr Metab 2006;3:19. PUBMED erişim adresi: https://pmc.ncbi.nlm.nih.gov/articles/PMC1481590/
Yamamoto, T. , Davis, C.G. , Brown, M.S. , ve ark. (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell. 39(1):27-38. CELL erişim adresi: https://www.cell.com/cell/abstract/0092-8674(84)90188-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2F0092867484901880%3Fshowall%3Dtrue
Yeste, D., Chacon, P., Clemente, M., ve ark. (2009). Ezetimibe as monotherapy in the treatment of hypercholesterolemia in children and adolescents. Journal of Pediatric Endocrinology and Metabolism 22(6):487‐92. DEG erişim adresi: https://www.degruyter.com/document/doi/10.1515/jpem.2009.22.6.487/html
Yiğitkan, S. , Ertaş, A. , Fırat, M. , ve ark. (2020). Lamiaaceae familyasoma ait 37 tıbbi bitkinin HMG-KOA redüktaz inhibitör aktiviteleri. Dergipark, 5(3); 24-33. DERGİPARK erişim adresi: https://dergipark.org.tr/tr/pub/gsbdergi/issue/59510/843051#:~:text=%C3%96z,i%C3%A7in%20en%20%C3%B6nemli%20hedeflerden%20biridir.
Yudkin, J. (1959). Etiology of cardiac infarction. Arch Intern Med. 104:681–3. JAMA erişim adresi: https://jamanetwork.com/journals/jamainternalmedicine/article-abstract/563924
Zaid, A. , Roubtsova, A. , Essalmani, R. , ve ark. (2008). Proprotein convertase subtilisin/kexin type 9 (PCSK9): hepatocyte-specific low-density lipoprotein receptor degradation and critical role in mouse liver regeneration. Hepatology. 48(2):646-54. PUBMED erişim adresi: https://pubmed.ncbi.nlm.nih.gov/18666258/
Zierle-Ghosh, A. , Jan, A. (2023). Physiology, body mass index. StatPearls. 2023 Nov. PUBMED erişim adresi: https://www.ncbi.nlm.nih.gov/books/NBK535456/
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