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Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia

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JIMD Reports - Case and Research Reports, 2011/2

Part of the book series: JIMD Reports ((JIMD,volume 2))

Abstract

Management of homozygous familial hypercholesterolaemia is notoriously difficult. For these patients, LDL apheresis is considered the treatment of choice. Treatment initiation is advocated generally from the age of seven years onwards (Thompson et al., Atherosclerosis 198:247–255, 2008). Here, we present the case of a young girl from a large inbred family of Turkish descent with homozygous familial hypercholesterolaemia and fatal outcome at the early age of 4½ years.

In conclusion, this case suggests that management of homozygous familial hypercholesterolaemia may require earlier and more aggressive treatment, including LDL apheresis before the age of seven years.

Competing interests: None declared.

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Authors and Affiliations

  1. Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, Inselspital, University of Bern, Room G3 813, Freiburgstrasse, 3010, Bern, Switzerland

    Matthias Gautschi

  2. Paediatric Cardiology, Department of Paediatrics, Inselspital, University of Bern, Bern, Switzerland

    Mladen Pavlovic

  3. Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland

    Jean-Marc Nuoffer

Authors
  1. Matthias Gautschi
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  2. Mladen Pavlovic
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  3. Jean-Marc Nuoffer
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Correspondence to Matthias Gautschi .

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    Communicated by: Ertan Mayatepek

    Synopsis

    Synopsis

    Clinical and biochemical diagnosis of homozygous familial hypercholesterolaemia should prompt treatment initiation, including both pharmacological and LDL apheresis therapy, at any age as soon as possible in order to reach rapidly the treatment goals (Total cholesterol < 9 mmol/L).

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    © 2011 SSIEM and Springer-Verlag Berlin Heidelberg

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    Gautschi, M., Pavlovic, M., Nuoffer, JM. (2011). Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia. In: JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_45

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    • DOI: https://doi.org/10.1007/8904_2011_45

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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-642-24757-6

    • Online ISBN: 978-3-642-24758-3

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