BMJ Case Reports 2011; doi:10.1136/bcr.02.2011.3895
  • Unusual presentation of more common disease/injury

Case series of type III hyperlipoproteinemia in children

  1. Jiri Frohlich4
  1. 1University of British Columbia, Vancouver, British Columbia, Canada
  2. 2Healthy Heart Program, St Paul’s Hospital, Vancouver, British Columbia, Canada
  3. 3Department of General Internal Medicine, Rockyview General Hospital, Calgary, Alberta, Canada
  4. 4Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
  1. Correspondence to Dr Michelle Fung, michelle.fung{at}


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.


  • Competing interests None.

  • Patient consent Obtained.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article