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Rare Genetic Dyslipidemia

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Pediatric Dyslipidemia

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Abstract

Our focus in this chapter is to present some of the rare genetic lipid disorders in the pediatric patients. These include sitosterolemia, lipodystrophy, Tangier disease, Fish-Eye disease, familial hypoalphalipoproteinemia, abetalipoproteinemia, cerebro-tendinous xanthomatosis among others. Some of these disorders have specific clinical features that will help in making the diagnosis.

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References

  1. Myrie SB, Steiner RD, Mymin D. Sitosterolemia. In: Adam MP, et al., editors. GeneReviews((R)). Seattle: University of Washington; 1993.

    Google Scholar 

  2. Park JH, et al. Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. J Clin Endocrinol Metab. 2014;99(5):1512–8.

    Article  CAS  PubMed  Google Scholar 

  3. Brown RJ, et al. The diagnosis and Management of Lipodystrophy Syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500–11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Araujo-Vilar D, Santini F. Diagnosis and treatment of lipodystrophy: a step-by-step approach. J Endocrinol Investig. 2019;42(1):61–73.

    Article  CAS  Google Scholar 

  5. Brown RJ, et al. Effects of Metreleptin in pediatric patients with lipodystrophy. J Clin Endocrinol Metab. 2017;102(5):1511–9.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Mercan M, et al. Peripheral neuropathy in Tangier disease: a literature review and assessment. J Peripher Nerv Syst. 2018;23(2):88–98.

    Article  PubMed  Google Scholar 

  7. Burnett JR, et al. Tangier disease. In: Adam MP, et al., editors. GeneReviews((R)). Seattle: University of Washington; 1993.

    Google Scholar 

  8. Kanai M, et al. Clinical features and visual function in a patient with fish-eye disease: quantitative measurements and optical coherence tomography. Am J Ophthalmol Case Rep. 2018;10:137–41.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Rousset X, et al. Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease. Curr Opin Endocrinol Diabetes Obes. 2009;16(2):163–71.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Yui Y, et al. Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I. J Clin Invest. 1988;82(3):803–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014;25(3):161–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37(3):333–9.

    Article  CAS  PubMed  Google Scholar 

  13. Carson BE, De Jesus O. Cerebrotendinous Xanthomatosis. Treasure Island (FL): StatPearls; 2021.

    Google Scholar 

  14. Bjorkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013;24(4):283–7.

    Article  PubMed  Google Scholar 

  15. Nie S, et al. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9:179.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Kattah L, et al. Hypercholesterolemia due to lipoprotein X: case report and thematic review. Clin Med Insights Endocrinol Diabetes. 2019;12:1179551419878687.

    Article  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. University of Alabama at Birmingham, Birmingham, AL, USA

    Christy Foster & Ambika Ashraf

  2. Mary Bridge Children’s Hospital, Tacoma, WA, USA

    Bhuvana Sunil

Authors
  1. Christy Foster
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  2. Bhuvana Sunil
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  3. Ambika Ashraf
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Corresponding author

Correspondence to Ambika Ashraf .

Editor information

Editors and Affiliations

  1. Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA

    Ambika Ashraf

  2. Department of Pediatrics, Mary Bridge Children’s Hospital, Tacoma, WA, USA

    Bhuvana Sunil

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Foster, C., Sunil, B., Ashraf, A. (2023). Rare Genetic Dyslipidemia. In: Ashraf, A., Sunil, B. (eds) Pediatric Dyslipidemia. Springer, Cham. https://doi.org/10.1007/978-3-031-24113-0_11

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  • DOI: https://doi.org/10.1007/978-3-031-24113-0_11

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-24112-3

  • Online ISBN: 978-3-031-24113-0

  • eBook Packages: MedicineMedicine (R0)

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