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Title: Severe combined hyperlipidaemia and retinal lipid infiltration in a patient with Type 2 diabetes mellitus.
Authors: Davey, Rachel A;Tebbutt, Niall C;Favaloro, Jenny M;O'neal, David N;Rae, Derek;Zajac, Jeffrey D;Best, James D
Affiliation: Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 17-Dec-2006
Citation: Lipids in Health and Disease 2006; 5(): 29
Abstract: Severe combined hyperlipidaemia has occasionally been associated with infiltration of tissues in addition to arteries and the skin. We report a woman with Type 2 diabetes mellitus (DM) and severe combined hyperlipidaemia who developed retinal lipid infiltration, resulting in blindness. A 61-year-old woman with a 15-year history of Type 2 DM was admitted following a two-week history of progressive visual loss. Examination identified lipid infiltration into the retina. Phenotypically she had severe combined hyperlipidaemia with elevated IDL cholesterol and a broad beta band on lipoprotein electrophoresis, raising the possibility of familial dysbetalipoproteinaemia. However, gene sequencing analysis indicated that the patient was homozygous for the E3/E3 allele of the ApoE gene with no mutations detected in either the coding region or intron-exon boundaries. Her lipid profile improved following dietary therapy and gemfibrozil treatment, but this had little effect on either her fundal appearances or her visual acuity. Type 2 DM plays a vital role both in allowing expression of severe combined hyperlipoproteinaemia, in addition to serving as a risk factor for complications such as tissue infiltration.
Internal ID Number: 17173705
DOI: 10.1186/1476-511X-5-29
Type: Journal Article
Subjects: Aged
Diabetes Mellitus, Type 2.blood.complications.metabolism
Lipid Metabolism
Appears in Collections:Journal articles

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