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Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners Cover

Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners

Global Heart
Volume 15 (2020): Issue 1
By: Fahad Alnouri,  Faisal A. Al-Allaf,  Mohammad Athar,  Zainularifeen Abduljaleel,  Moheeb Alabdullah,  Dalal Alammari,  Menwar Alanazi,  Fahmi Alkaf,  Abeer Allehyani,  Mohammad A. Alotaiby,  Abdullah Alshehri,  Abdellatif Bouazzaoui,  Hussam Karrar and  Mohiuddin M. Taher  
Open Access
|Feb 2020

References

  1. Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the consensus panel on familial hypercholesterolaemia of the European atherosclerosis society. Eur Heart J. 2014; 35: 2146–2157. DOI: 10.1093/eurheartj/ehu274
    Open DOISearch in Google ScholarBack to article
  2. Al-Allaf FA, Athar M, Abduljaleel Z, et al. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease. Gene. 2015; 565: 76–84. DOI: 10.1016/j.gene.2015.03.064
    Open DOISearch in Google ScholarBack to article
  3. Farnier M, Bruckert E. Severe familial hypercholesterolaemia: Current and future management. Arch Cardiovasc Dis. 2012; 105: 656–665. DOI: 10.1016/j.acvd.2012.05.011
    Open DOISearch in Google ScholarBack to article
  4. Al-Allaf FA, Coutelle C, Waddington SN, et al. LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives. Int Arch Med. 2010; 3: 36. DOI: 10.1186/1755-7682-3-36
    Open DOISearch in Google ScholarBack to article
  5. Liyanage KE, Burnett JR, Hooper AJ, van Bockxmeer FM. Familial hypercholesterolemia: epidemiology, neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci. 2011; 48: 1–18. DOI: 10.3109/10408363.2011.565585
    Open DOISearch in Google ScholarBack to article
  6. Sjouke B, Hovingh GK, Kastelein JJ, Stefanutti C. Homozygous autosomal dominant hypercholesterolaemia: Prevalence, diagnosis, and current and future treatment perspectives. Curr Opin Lipidol. 2015; 26: 200–209. DOI: 10.1097/MOL.0000000000000179
    Open DOISearch in Google ScholarBack to article
  7. Harrison P. US prevalence of familial hypercholesterolemia higher than expected. News and perspective. Cardilogy. 2016; March 14.
    Search in Google ScholarBack to article
  8. Al-Allaf FA, Athar M, Abduljaleel Z, et al. Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia. Hum Genome Var. 2014; 1: 14021. DOI: 10.1038/hgv.2014.21
    Open DOISearch in Google ScholarBack to article
  9. Al-Allaf FA, Alashwal A, Abduljaleel Z, et al. Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children. Genomics. 2016; 107: 24–32. DOI: 10.1016/j.ygeno.2015.12.001
    Open DOISearch in Google ScholarBack to article
  10. Al-Allaf FA, Alashwal A, Abduljaleel Z, et al. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient. Acta Biochim Pol. 2016; Nov 23. [Epub ahead of print].
    Search in Google ScholarBack to article
  11. Alharbi KK, Kashour TS, Al-Hussaini W, et al. Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population. Acta Biochim Pol. 2015; 62: 559–562. DOI: 10.18388/abp.2015_1015
    Open DOISearch in Google ScholarBack to article
  12. Al-Ashwal A, Alnouri F, Sabbour H, et al. Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel. Curr Vasc Pharmacol. 2015; 13: 759–770. DOI: 10.2174/1570161113666150827125040
    Open DOISearch in Google ScholarBack to article
  13. Tadmouri GO, Nair P, Obeid T, et al. Consanguinity and reproductive health among Arabs. Reprod Health. 2009; 6: 17. DOI: 10.1186/1742-4755-6-17
    Open DOISearch in Google ScholarBack to article
  14. Huri G, Joachim N. An unusual case of hand xanthomatosis. Case Rep Orthop. 2013; 2013: 183018. DOI: 10.1155/2013/183018
    Open DOISearch in Google ScholarBack to article
  15. Reichwaldt I, Zustin J, Wenke K, Ridderbusch I. Differential diagnosis of tendon tumors: xanthomas caused by hyperlipidemia in children. J Pediatr Surg. 2010; 45: e9–12. DOI: 10.1016/j.jpedsurg.2010.06.030
    Open DOISearch in Google ScholarBack to article
  16. Zak A, Zeman M, Slaby A, Vecka M. Xanthomas: Clinical and pathophysiological relations. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014; 158: 181–8. DOI: 10.5507/bp.2014.016
    Open DOISearch in Google ScholarBack to article
  17. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ. 1991; 303: 893–896. DOI: 10.1136/bmj.303.6807.893
    Open DOISearch in Google ScholarBack to article
  18. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4: 1073–1081. DOI: 10.1038/nprot.2009.86
    Open DOISearch in Google ScholarBack to article
  19. Edrees BM, Athar M, Al-Allaf FA, et al. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease. Gene. 2016; 591: 214–226. DOI: 10.1016/j.gene.2016.07.021
    Open DOISearch in Google ScholarBack to article
  20. Bhagwat M. Searching NCBI’s dbSNP database. Curr Protoc Bioinformatics. 2010; Chapter 1: Unit 1.19. DOI: 10.1002/0471250953.bi0119s32
    Open DOISearch in Google ScholarBack to article
  21. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491: 56–65. DOI: 10.1038/nature11632
    Open DOISearch in Google ScholarBack to article
  22. Forbes SA, Tang G, Bindal N, et al. COSMIC (the Catalogue of Somatic Mutations in Cancer): A resource to investigate acquired mutations in human cancer. Nucleic Acids Res. 2010; 38: D652–657. DOI: 10.1093/nar/gkp995
    Open DOISearch in Google ScholarBack to article
  23. Flicek P, Amode MR, Barrell D, et al. Ensembl 2014. Nucleic Acids Res. 2014; 42: D749–755. DOI: 10.1093/nar/gkt1196
    Open DOISearch in Google ScholarBack to article
  24. Basavaraj A, Jadhav S, Dhadwad J. Familial hypercholesterolemia presenting as intracranial xanthoma. J Assoc Physicians India. 2006; 54: 330–332.
    Search in Google ScholarBack to article
  25. Feussner G, Dobmeyer J, Nissen H, Hansen TS. Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. Am J Med Genet. 1996; 65: 149–154. DOI: 10.1002/(SICI)1096-8628(19961016)65:2<;149::AID-AJMG14>3.0.CO;2-Q
    Open DOISearch in Google ScholarBack to article
  26. Bermudez EB, Storey L, Mayo S, Simpson G. An unusual case of multiple tendinous xanthomas involving the extremities and the ears. Case Rep Dermatol. 2015; 7: 340–344. DOI: 10.1159/000441711
    Open DOISearch in Google ScholarBack to article
  27. Leus FR, Zwart M, Kastelein JJ, Voorbij HA. PON2 gene variants are associated with clinical manifestations of cardiovascular disease in familial hypercholesterolemia patients. Atherosclerosis. 2001; 154: 641–649. DOI: 10.1016/S0021-9150(00)00440-8
    Open DOISearch in Google ScholarBack to article
  28. Garcia-Rios A, Delgado-Lista J, Perez-Martinez P, et al. Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism. Atherosclerosis. 2011; 218: 416–422. DOI: 10.1016/j.atherosclerosis.2011.07.092
    Open DOISearch in Google ScholarBack to article
  29. Rocco CA, Mecikovsky D, Aulicino P, et al. Hypercholesterolemia is associated with the apolipoprotein C-III (APOC3) genotype in children receiving HAART: an eight-year retrospective study. PLoS One. 2012; 7: e39678. DOI: 10.1371/journal.pone.0039678
    Open DOISearch in Google ScholarBack to article
  30. Emerging Risk Factors C, Erqou S, Kaptoge S, et al. Lipoprotein(a) concentration and the risk of coronary heart disease, stroke, and nonvascular mortality. JAMA. 2009; 302: 412–23. DOI: 10.1001/jama.2009.1063
    Open DOISearch in Google ScholarBack to article
DOI: https://doi.org/10.5334/gh.759 | Journal eISSN: 2211-8179
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Language: English
Submitted on: Jul 24, 2019
|
Accepted on: Dec 10, 2019
|
Published on: Feb 28, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Familial hypercholesterolemia,
Xanthoma,
Next-generation sequencing,
Mutation,
Low-density lipoprotein receptor,
Frameshift mutation,
Cholesterol,
Coronary artery disease

© 2020 Fahad Alnouri, Faisal A. Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Moheeb Alabdullah, Dalal Alammari, Menwar Alanazi, Fahmi Alkaf, Abeer Allehyani, Mohammad A. Alotaiby, Abdullah Alshehri, Abdellatif Bouazzaoui, Hussam Karrar, Mohiuddin M. Taher, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

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