title: Severe combined hyperlipidaemia and retinal lipid infiltration in a patient with Type 2 diabetes mellitus.
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.
authors.affiliation: Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. r.davey@unimelb.edu.au
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Davey
authors.forename: Niall C
authors.initials: NC
authors.lastname: Tebbutt
authors.forename: Jenny M
authors.initials: JM
authors.lastname: Favaloro
authors.forename: David N
authors.initials: DN
authors.lastname: O'neal
authors.forename: Derek
authors.initials: D
authors.lastname: Rae
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Zajac
authors.forename: James D
authors.initials: JD
authors.lastname: Best
mesh_terms: D000368:Aged; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications* / Q000378:metabolism; D005260:Female; D006470:Hemorrhage; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000150:complications* / Q000378:metabolism; D050356:Lipid Metabolism; D008055:Lipids / Q000097:blood; D012160:Retina / Q000378:metabolism* / Q000473:pathology*
chemical_list: D008055:Lipids