Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia

Gautschi, Matthias; Pavlovic, Mladen; Nuoffer, Jean-Marc (2012). Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. In: , (ed.) JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports: Vol. 2 (pp. 45-50). Berlin: Springer 10.1007/8904_2011_45

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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 4(1/2) 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.

Item Type:

Book Section (Book Chapter)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)

UniBE Contributor:

Gautschi, Matthias; Pavlovic, Mladen and Nuoffer, Jean-Marc

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2192-8304

ISBN:

978-3-642-24758-3

Series:

JIMD Reports

Publisher:

Springer

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:41

Last Modified:

31 Dec 2014 18:20

Publisher DOI:

10.1007/8904_2011_45

PubMed ID:

23430853

BORIS DOI:

10.7892/boris.16557

URI:

https://boris.unibe.ch/id/eprint/16557 (FactScience: 224214)

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