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D.A. Goran, M. Joshi, A. Capone; Lipemia Retinalis as a Presenting Finding of Type V Familial Hyperlipoproteinemia . Invest. Ophthalmol. Vis. Sci. 2006;47(13):937.
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Describe a case of Frederickson Type V Familial Hyperlipoproteinemia presenting with lipemia retinalis and cranial nerve VI palsy.
A 28 year old African American male with a history of diabetes mellitus, hypertension, anemia, and pancreatitis presents with painless binocular horizontal diplopia. Examination is consistent with lipemia retinalis with a concurrent cranial nerve VI palsy. Blood work, systemic evaluation, and genetic testing was done in conjunction with the patient’s hematologist.
Laboratory values and lipoprotein electrophoresis results were consistent with type V hyperlipoproteinemia. Genetic analysis concluded the Apo E genotype to be e3/e3, the most common allele. Abdomen and pelvis CT showed significant fatty infiltration of the liver. The diagnosis of lipemia retinalis secondary to Frederickson Type V Familial Hyperlipoproteinemia was made and the patient underwent 5 sessions of plasmaphoresis.
Recognition of lipemia retinalis may assist in the early diagnosis of hyperlipidemia. Early recognition and treatment is paramount in preventing complications such as pancreatitis, accelerated atherosclerosis, and hyperviscosity syndrome. Plasmaphoresis has been shown to be an efficacious treatment along with dietary restriction of triglyercides and pharmacological interventions such as the use of insulin and statin medications.
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