Original articles

Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia:

Evelien Diane Pouwels, Dirk Jacobus Blom, Jean Catherine Firth, Howard Edward Henderson, Adrian David Marais

Abstract


Lipoprotein lipase deficiency causes severe hypertriglyceridaemia due to chylomicronaemia and leads to recurrent and potentially life-threatening pancreatitis. This disorder can only be managed by dietary fat restriction as drugs are ineffective.

We review the experience with familial chylomicronaemia in patients who attended the lipid clinics at Groote Schuur Hospital and the Red Cross Children’s War Memorial Hospital in Cape Town. The criteria for inclusion were an initial plasma triglyceride concentration of > 15 mmol/L and a typical type I Fredrickson hyperlipidaemia pattern on plasma lipoprotein electrophoresis. A total of 29 patients were seen over 25 years. The mean age of presentation was 10 years, but ranged from from 0 to 43 years. The modes of presentation differed: pancreatitis (n=16), eruptive xanthomata (n=2), coincidental detection of hypertriglyceridaemia (n=2), screening relatives (n=7) and after death from pancreatitis (n=1). Plasma triglycerides responded rapidly and dramatically to dietary fat restriction and some patients sustained good control of the hyperlipidaemia.. The onset of pancreatitis was earlier in patients of Indian ancestry suggesting a genotype/phenotype interaction within this disorder. Genetic work-up indicated founder effects in the Afrikaner and Indian patients.

Lipaemic plasma should be taken seriously at all ages and necessitates work-up at specialised clinics where the diagnosis of chylomicronaemia or type I hyperlipidaemia facilitates appropriate dietary management that can prevent pancreatitis.

Authors' affiliations

Evelien Diane Pouwels, University of Groningen

Dirk Jacobus Blom, University of Cape Town

Jean Catherine Firth, University of Cape Town and Groote Schuur Hospital

Howard Edward Henderson, National Health Laboratory Service and University of Cape Town

Adrian David Marais, Groote Schuur Hospital and University of Cape Town

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Keywords

Chylomicronaemia, type I hyperlipidaemia, lipoprotein lipase deficiency

Cite this article

South African Medical Journal 2008;98(2):105.

Article History

Date submitted: 2007-09-05
Date published: 2007-12-20

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