Abstract | OBJECTIVES: Dysbetalipoproteinaemia (type III hyperlipidaemia, broad-beta disease) is a highly atherogenic genetic disorder of lipoprotein metabolism. It presents with a severe mixed hyperlipidaemia in which the ratio of total cholesterol to triglycerides is typically 2:1. There is a high incidence of atherosclerotic complications and severe hypertriglyceridaemia may cause pancreatitis. Highly effective therapy is available and affected families also benefit from genetic counselling. We present a review of our experience with dysbetalipoproteinaemia at the lipid clinic of Groote Schuur Hospital to enhance awareness of this serious condition, for which the index of suspicion should be raised. DESIGN: Retrospective review of case records, 1969-2001. SETTING:
Lipid clinic of Groote Schuur Hospital, Cape Town. SUBJECTS: RESULTS: CONCLUSIONS: Dysbetalipoproteinaemia is a highly atherogenic disorder and is extremely responsive to therapy. A significant proportion of dysbetalipoproteinaemia locally is caused by the apoE2 (Arg145-->Cys) mutation and is therefore dominantly inherited. This mutation is particularly prevalent in the black community where dysbetalipoproteinaemia may be undiagnosed in many patients. Patients with severe mixed hyperlipidaemia or clinical stigmata of dyslipidaemia should be assessed at a lipid clinic for a specific diagnosis and initiation of therapy.
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Authors | D J Blom, P Byrnes, S Jones, A D Marais |
Journal | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
(S Afr Med J)
Vol. 92
Issue 11
Pg. 892-7
(Nov 2002)
ISSN: 0256-9574 [Print] South Africa |
PMID | 12506591
(Publication Type: Journal Article)
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Chemical References |
- Apolipoprotein E2
- Apolipoproteins E
- Cholesterol, VLDL
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Apolipoprotein E2
- Apolipoproteins E
(genetics)
- Child
- Cholesterol, VLDL
(blood, genetics)
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Homozygote
- Humans
- Hyperlipoproteinemia Type III
(blood, genetics, physiopathology)
- Male
- Middle Aged
- Retrospective Studies
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