Document Detail


Case series of type III hyperlipoproteinemia in children.
MedLine Citation:
PMID:  22691586     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Type III hyperlipoproteinemia (type III HLP) rarely manifests in childhood. Long-term follow-up (37 years) of the first patient revealed hypothyroidism at diagnosis requiring thyroxine replacement, palmar xanthomas requiring surgical removal, splenomegaly requiring splenectomy, 18 episodes of pancreatitis and premature coronary artery disease. Investigation revealed an apolipoprotein E phenotype of E2/E2 and partial lipoprotein lipase deficiency. Investigation of the second patient revealed a combination of apoE2/E2 phenotype and heterozygous familial hypercholesterolaemia. The third patient had a complete deficiency of lipoprotein lipase activity, an abnormal thyroid stimulating hormone on diagnosis (with subsequent normalisation without treatment), and apoE2/E2 phenotype. Type III HLP is a serious disorder with lifelong consequences of premature vascular disease and recurrent pancreatitis. Early presentation of disease in our patients was associated with additional precipitating factors. Drug treatment of paediatric type III HLP is indicated if dietary modifications alone are insufficient in managing the dyslipidaemia.
Authors:
Michelle Fung; John Hill; Donald Cook; Jiri Frohlich
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-06-09
Journal Detail:
Title:  BMJ case reports     Volume:  2011     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2011  
Date Detail:
Created Date:  2012-06-13     Completed Date:  2013-04-29     Revised Date:  2013-07-12    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Affiliation:
University of British Columbia, Vancouver, British Columbia, Canada. michelle.fung@vch.ca
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MeSH Terms
Descriptor/Qualifier:
Child
Female
Follow-Up Studies
Humans
Hyperlipoproteinemia Type III* / diagnosis,  therapy
Male
Middle Aged
Comments/Corrections

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