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Yıl 2025, Cilt: 52 Sayı: 2, 283 - 297, 20.06.2025
https://doi.org/10.5798/dicletip.1723050

Öz

Kaynakça

  • 1.Wiegman A, Gidding SS, Watts GF, et al. Familialhypercholesterolaemia in children and adolescents:gaining decades of life by optimizing detection andtreatment. Eur Heart J. 2015;36(36):2425-37.doi:10.1093/eurheartj/ehv157
  • 2.Ison HE, Clarke SL, Knowles JW. FamilialHypercholesterolemia Synonyms: FamilialHypercholesterolaemia, HyperlipoproteinemiaType IIA. In: Adam MP, Feldman J, Mirzaa GM, et al.,eds. GeneReviews® [Internet].; 2022. AccessedOctober 2, 2024. https://www.ncbi.nlm.nih.gov/books/NBK174884/
  • 3.Maliachova O, Stabouli S. FamilialHypercholesterolemia in Children and Adolescents:Diagnosis and Treatment. Curr Pharm Des.2019;24(31):3672-3677.doi:10.2174/1381612824666181010145807
  • 4.Singh S, Bittner V. FamilialHypercholesterolemia—Epidemiology, Diagnosis,and Screening. CurrAtheroscler Rep. 2015;17(2):3.doi:10.1007/s11883-014-0482-5
  • 5.Cuchel M, Bruckert E, Ginsberg HN, et al.Homozygous familial hypercholesterolaemia: newinsights and guidance for clinicians to improvedetection and clinical management. A position paper from the Consensus Panel on FamilialHypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35(32):2146-57. doi:10.1093/eurheartj/ehu274
  • 6.Harada-Shiba M, Ohtake A, Sugiyama D, et al.Guidelines for the Diagnosis and Treatment ofPediatric Familial Hypercholesterolemia 2022. JAtherosclerThromb. 2023;30(5):CR006.doi:10.5551/jat.CR006
  • 7.Cohen H, Stefanutti C, Di Giacomo S, et al. CurrentApproach to the Diagnosis and Treatment ofHeterozygote and Homozygous FH Children andAdolescents. CurrAtheroscler Rep. 2021;23(6).doi:10.1007/s11883-021-00926-3
  • 8.Du Z, Du Y, Li L, et al. Metabolomic Approach toScreening Homozygotes in Chinese Patients withSevere Familial Hypercholesterolemia. J Clin Med.2023;12(2):483. doi:10.3390/jcm12020483
  • 9.Watts GF, Lewis B, Sullivan DR. Familialhypercholesterolemia: a missed opportunity inpreventive medicine. Nat ClinPractCardiovasc Med.2007;4(8):404-405. doi:10.1038/ncpcardio0941
  • 10.Widhalm K, Binder CB, Kreissl A, et al. Suddendeath in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) inhomozygous familial hypercholesterolemia. JPediatr. 2011;158(1):167.doi:10.1016/j.jpeds.2010.06.027
  • 11.Gautschi M, Pavlovic M, Nuoffer JM. Fatalmyocardial infarction at 4.5 years in a case ofhomozygous familial hypercholesterolaemia. JIMDRep. 2012;2:45-50. doi:10.1007/8904_2011_45
  • 12.Pederiva C, Gazzotti M, Arca M, et al. ClinicalApproach in the Management of Paediatric Patientswith Familial Hypercholesterolemia: A NationalSurvey Conducted by the LIPIGEN Paediatric Group.Nutrients. 2023;15(15):3468.doi:10.3390/nu15153468
  • 13.Sonmez A, Demirci I, Haymana C, et al. Clinicalcharacteristics of adult and paediatric patients withfamilial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database.Atherosclerosis. 2023;375:9-20.doi:10.1016/j.atherosclerosis.2023.04.011
  • 14.Brett T. Universal screening for familialhypercholesterolaemia in newborns: Time forgeneral practice to contribute. Aust J Gen Pract.2023;52(4):246-248. doi:10.31128/AJGP-10-22- 6581.
  • 15.Feingold KR, Chait A. Approach to patients withelevated low-density lipoprotein cholesterol levels.Best Pract Res ClinEndocrinolMetab. Publishedonline May 1, 2022. doi:10.1016/j.beem.2022.101658
  • 16.Bouhairie VE, Goldberg AC. FamilialHypercholesterolemia. CardiolClin. 2015;33(2):169-179. doi:10.1016/j.ccl.2015.01.001
  • 17.Mansfield BS, Raal FJ. Regression of cutaneousxanthomata in patient with homozygous familialhypercholesterolemia using novel therapies. TheLancet. 2023;402(10404):e11. doi:10.1016/S0140-6736(23)01515-5
  • 18.McGowan MP, Hosseini Dehkordi SH, MoriartyPM, Duell PB. Diagnosis and Treatment ofHeterozygous Familial Hypercholesterolemia. J AmHeart Assoc. 2019;8(24). doi:10.1161/JAHA.119.013225
  • 19.Rutkowska L, Pinkier I, Sałacińska K, et al.Identification of New Copy Number Variation andthe Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial HypercholesterolemiaPatients. Genes (Basel). 2022;13(8):1424.doi:10.3390/genes13081424
  • 20.Mytilinaiou M, Kyrou I, Khan M,Grammatopoulos DK, Randeva HS. FamilialHypercholesterolemia: New Horizons for Diagnosisand Effective Management. Front Pharmacol.2018;9. doi:10.3389/fphar.2018.00707
  • 21.Turgeon RD, Barry AR, Pearson GJ. Familialhypercholesterolemia: Review of diagnosis,screening, and treatment. Can Fam Physician.2016;62(1):32-37.
  • 22.Williams L, Wilson D. Nutritional management of pediatric dyslipidemia. Endotext MDText.com, Inc.Published online April 30, 2023.
  • 23.Butt WZ, Yee JK. The Role of Non-statin Lipid-Lowering Medications in Youth with Hypercholesterolemia. CurrAtheroscler Rep. 2022;24(5):379-89. doi:10.1007/s11883-022-01013-x
  • 24.Fachin A, De Carlo C, Maestro A, et al. RapidResolution ofLife-Threatening Hypertriglyceridemia after Evinacumab Administration in a Pediatric HSCT Recipient: A Case Report. Pharmaceuticals. 2023;16(8). doi:10.3390/ph16081069
  • 25.Wiegman A, Greber-Platzer S, Ali S, et al.Evinacumab for Pediatric Patients WithHomozygous Familial Hypercholesterolemia.Circulation. Published online October 20, 2023.doi:10.1161/circulationaha.123.065529
  • 26.Weintraub SF, Schillow JA, Azari BM, Hirsh BJ.Implementation of Novel Lipid Therapies in aRefractory Heterozygous FamilialHypercholesterolemia Patient With AtheroscleroticDisease. JACC Case Rep. 2022;4(20):1327-1330.doi:10.1016/j.jaccas.2022.06.021
  • 27.Gokay S, Kendirci M, Kaynar L, et al. Long-termefficacy of lipoprotein apheresis in the managementof familial hypercholesterolaemia: Application oftwo different apheresis techniques in childhood.Transfusion and Apheresis Science.2016;54(2):282-8.doi:10.1016/j.transci.2015.10.015
  • 28.Coker M, Ucar SK, Simsek DG, et al. Low densitylipoprotein apheresis in pediatric patients withhomozygous familial hypercholesterolemia. Therapeutic Apheresis and Dialysis. 2009;13(2):121-8.doi:10.1111/j.1744-9987.2009.00666.x
  • 29.Ishigaki Y, Kawagishi N, Hasegawa Y, et al. LiverTransplantation for Homozygous FamilialHypercholesterolemia. J AtherosclerThromb.2019;26(2):121-7. doi:10.5551/jat.RV17029

Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study

Yıl 2025, Cilt: 52 Sayı: 2, 283 - 297, 20.06.2025
https://doi.org/10.5798/dicletip.1723050

Öz

Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and genetic profiles of patients affected by familial hypercholesterolemia.
Methods: A retrospective review was performed on the demographic, clinical, biochemical and genotypic profiles of 124 individuals diagnosed with familial hypercholesterolemia.
Results: These cases from 6 centres comprised 50.8% males and 49.2% females. There was a history of hypercholesterolemia in the mothers of 43.5% of the cases and in the fathers of 53.2%. At the time of diagnosis, 81.5% of the cases had no complaints, 3.2% had skin lesions and 3.2% had weight gain complaints. Mutations were detected in the LDLR gene in 95.2% of the cases, in the APOE gene in 3.2% and in the APOB gene in 1.6%.
Conclusion: Familial hypercholesterolemia cases are still under-detected both in Türkiye and worldwide. Consequently, the prevention of coronary artery diseases caused by hypercholesterolemia is not feasible, underscoring the need for implementing more robust and widespread screening protocols.

Kaynakça

  • 1.Wiegman A, Gidding SS, Watts GF, et al. Familialhypercholesterolaemia in children and adolescents:gaining decades of life by optimizing detection andtreatment. Eur Heart J. 2015;36(36):2425-37.doi:10.1093/eurheartj/ehv157
  • 2.Ison HE, Clarke SL, Knowles JW. FamilialHypercholesterolemia Synonyms: FamilialHypercholesterolaemia, HyperlipoproteinemiaType IIA. In: Adam MP, Feldman J, Mirzaa GM, et al.,eds. GeneReviews® [Internet].; 2022. AccessedOctober 2, 2024. https://www.ncbi.nlm.nih.gov/books/NBK174884/
  • 3.Maliachova O, Stabouli S. FamilialHypercholesterolemia in Children and Adolescents:Diagnosis and Treatment. Curr Pharm Des.2019;24(31):3672-3677.doi:10.2174/1381612824666181010145807
  • 4.Singh S, Bittner V. FamilialHypercholesterolemia—Epidemiology, Diagnosis,and Screening. CurrAtheroscler Rep. 2015;17(2):3.doi:10.1007/s11883-014-0482-5
  • 5.Cuchel M, Bruckert E, Ginsberg HN, et al.Homozygous familial hypercholesterolaemia: newinsights and guidance for clinicians to improvedetection and clinical management. A position paper from the Consensus Panel on FamilialHypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35(32):2146-57. doi:10.1093/eurheartj/ehu274
  • 6.Harada-Shiba M, Ohtake A, Sugiyama D, et al.Guidelines for the Diagnosis and Treatment ofPediatric Familial Hypercholesterolemia 2022. JAtherosclerThromb. 2023;30(5):CR006.doi:10.5551/jat.CR006
  • 7.Cohen H, Stefanutti C, Di Giacomo S, et al. CurrentApproach to the Diagnosis and Treatment ofHeterozygote and Homozygous FH Children andAdolescents. CurrAtheroscler Rep. 2021;23(6).doi:10.1007/s11883-021-00926-3
  • 8.Du Z, Du Y, Li L, et al. Metabolomic Approach toScreening Homozygotes in Chinese Patients withSevere Familial Hypercholesterolemia. J Clin Med.2023;12(2):483. doi:10.3390/jcm12020483
  • 9.Watts GF, Lewis B, Sullivan DR. Familialhypercholesterolemia: a missed opportunity inpreventive medicine. Nat ClinPractCardiovasc Med.2007;4(8):404-405. doi:10.1038/ncpcardio0941
  • 10.Widhalm K, Binder CB, Kreissl A, et al. Suddendeath in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) inhomozygous familial hypercholesterolemia. JPediatr. 2011;158(1):167.doi:10.1016/j.jpeds.2010.06.027
  • 11.Gautschi M, Pavlovic M, Nuoffer JM. Fatalmyocardial infarction at 4.5 years in a case ofhomozygous familial hypercholesterolaemia. JIMDRep. 2012;2:45-50. doi:10.1007/8904_2011_45
  • 12.Pederiva C, Gazzotti M, Arca M, et al. ClinicalApproach in the Management of Paediatric Patientswith Familial Hypercholesterolemia: A NationalSurvey Conducted by the LIPIGEN Paediatric Group.Nutrients. 2023;15(15):3468.doi:10.3390/nu15153468
  • 13.Sonmez A, Demirci I, Haymana C, et al. Clinicalcharacteristics of adult and paediatric patients withfamilial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database.Atherosclerosis. 2023;375:9-20.doi:10.1016/j.atherosclerosis.2023.04.011
  • 14.Brett T. Universal screening for familialhypercholesterolaemia in newborns: Time forgeneral practice to contribute. Aust J Gen Pract.2023;52(4):246-248. doi:10.31128/AJGP-10-22- 6581.
  • 15.Feingold KR, Chait A. Approach to patients withelevated low-density lipoprotein cholesterol levels.Best Pract Res ClinEndocrinolMetab. Publishedonline May 1, 2022. doi:10.1016/j.beem.2022.101658
  • 16.Bouhairie VE, Goldberg AC. FamilialHypercholesterolemia. CardiolClin. 2015;33(2):169-179. doi:10.1016/j.ccl.2015.01.001
  • 17.Mansfield BS, Raal FJ. Regression of cutaneousxanthomata in patient with homozygous familialhypercholesterolemia using novel therapies. TheLancet. 2023;402(10404):e11. doi:10.1016/S0140-6736(23)01515-5
  • 18.McGowan MP, Hosseini Dehkordi SH, MoriartyPM, Duell PB. Diagnosis and Treatment ofHeterozygous Familial Hypercholesterolemia. J AmHeart Assoc. 2019;8(24). doi:10.1161/JAHA.119.013225
  • 19.Rutkowska L, Pinkier I, Sałacińska K, et al.Identification of New Copy Number Variation andthe Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial HypercholesterolemiaPatients. Genes (Basel). 2022;13(8):1424.doi:10.3390/genes13081424
  • 20.Mytilinaiou M, Kyrou I, Khan M,Grammatopoulos DK, Randeva HS. FamilialHypercholesterolemia: New Horizons for Diagnosisand Effective Management. Front Pharmacol.2018;9. doi:10.3389/fphar.2018.00707
  • 21.Turgeon RD, Barry AR, Pearson GJ. Familialhypercholesterolemia: Review of diagnosis,screening, and treatment. Can Fam Physician.2016;62(1):32-37.
  • 22.Williams L, Wilson D. Nutritional management of pediatric dyslipidemia. Endotext MDText.com, Inc.Published online April 30, 2023.
  • 23.Butt WZ, Yee JK. The Role of Non-statin Lipid-Lowering Medications in Youth with Hypercholesterolemia. CurrAtheroscler Rep. 2022;24(5):379-89. doi:10.1007/s11883-022-01013-x
  • 24.Fachin A, De Carlo C, Maestro A, et al. RapidResolution ofLife-Threatening Hypertriglyceridemia after Evinacumab Administration in a Pediatric HSCT Recipient: A Case Report. Pharmaceuticals. 2023;16(8). doi:10.3390/ph16081069
  • 25.Wiegman A, Greber-Platzer S, Ali S, et al.Evinacumab for Pediatric Patients WithHomozygous Familial Hypercholesterolemia.Circulation. Published online October 20, 2023.doi:10.1161/circulationaha.123.065529
  • 26.Weintraub SF, Schillow JA, Azari BM, Hirsh BJ.Implementation of Novel Lipid Therapies in aRefractory Heterozygous FamilialHypercholesterolemia Patient With AtheroscleroticDisease. JACC Case Rep. 2022;4(20):1327-1330.doi:10.1016/j.jaccas.2022.06.021
  • 27.Gokay S, Kendirci M, Kaynar L, et al. Long-termefficacy of lipoprotein apheresis in the managementof familial hypercholesterolaemia: Application oftwo different apheresis techniques in childhood.Transfusion and Apheresis Science.2016;54(2):282-8.doi:10.1016/j.transci.2015.10.015
  • 28.Coker M, Ucar SK, Simsek DG, et al. Low densitylipoprotein apheresis in pediatric patients withhomozygous familial hypercholesterolemia. Therapeutic Apheresis and Dialysis. 2009;13(2):121-8.doi:10.1111/j.1744-9987.2009.00666.x
  • 29.Ishigaki Y, Kawagishi N, Hasegawa Y, et al. LiverTransplantation for Homozygous FamilialHypercholesterolemia. J AtherosclerThromb.2019;26(2):121-7. doi:10.5551/jat.RV17029
Toplam 29 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Tıp Eğitimi, Sağlık Hizmetleri ve Sistemleri (Diğer)
Bölüm Original Articles
Yazarlar

Abdurrahman Akgün

Gozde Uzunyayla Bu kişi benim

Neslihan Gucuyener Ozkan Bu kişi benim

Tanyel Zubarioglu Bu kişi benim

Meral Bahar İster

Özlem Ünal

Esra Er

Pelin Teke Kısa

Hüseyin Bilgin

Merve Aslantaş

Hasan Onal

Ertugrul Kiykim Bu kişi benim

Ayse Cigdem Aktuglu Zeybek

Yayımlanma Tarihi 20 Haziran 2025
Gönderilme Tarihi 16 Ocak 2025
Kabul Tarihi 21 Mayıs 2025
Yayımlandığı Sayı Yıl 2025 Cilt: 52 Sayı: 2

Kaynak Göster

APA Akgün, A., Uzunyayla, G., Gucuyener Ozkan, N., … Zubarioglu, T. (2025). Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study. Dicle Medical Journal, 52(2), 283-297. https://doi.org/10.5798/dicletip.1723050
AMA Akgün A, Uzunyayla G, Gucuyener Ozkan N, vd. Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study. diclemedj. Haziran 2025;52(2):283-297. doi:10.5798/dicletip.1723050
Chicago Akgün, Abdurrahman, Gozde Uzunyayla, Neslihan Gucuyener Ozkan, Tanyel Zubarioglu, Meral Bahar İster, Özlem Ünal, Esra Er, vd. “Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study”. Dicle Medical Journal 52, sy. 2 (Haziran 2025): 283-97. https://doi.org/10.5798/dicletip.1723050.
EndNote Akgün A, Uzunyayla G, Gucuyener Ozkan N, Zubarioglu T, İster MB, Ünal Ö, Er E, Teke Kısa P, Bilgin H, Aslantaş M, Onal H, Kiykim E, Aktuglu Zeybek AC (01 Haziran 2025) Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study. Dicle Medical Journal 52 2 283–297.
IEEE A. Akgün vd., “Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study”, diclemedj, c. 52, sy. 2, ss. 283–297, 2025, doi: 10.5798/dicletip.1723050.
ISNAD Akgün, Abdurrahman vd. “Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study”. Dicle Medical Journal 52/2 (Haziran2025), 283-297. https://doi.org/10.5798/dicletip.1723050.
JAMA Akgün A, Uzunyayla G, Gucuyener Ozkan N, Zubarioglu T, İster MB, Ünal Ö, Er E, Teke Kısa P, Bilgin H, Aslantaş M, Onal H, Kiykim E, Aktuglu Zeybek AC. Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study. diclemedj. 2025;52:283–297.
MLA Akgün, Abdurrahman vd. “Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study”. Dicle Medical Journal, c. 52, sy. 2, 2025, ss. 283-97, doi:10.5798/dicletip.1723050.
Vancouver Akgün A, Uzunyayla G, Gucuyener Ozkan N, Zubarioglu T, İster MB, Ünal Ö, vd. Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study. diclemedj. 2025;52(2):283-97.