Patients diagnosed with eruptive xanthomas that are found to be caused by a deficiency in the enzyme lipoprotein lipase are classified as having type I hyperlipoproteinemia. This is a rare form of hyperlipoproteinemia with onset in childhood. Systemic involvement is significant, with recurrent bouts of pancreatitis and hepatosplenomegaly. These patients have extremely elevated triglyceride and chylomicron levels but normal cholesterol levels. The eye may also be affected with lipemia retinalis. Lipemia retinalis can be seen only by means of a funduscopic examination. Vision is typically normal, and the patient is unaware of any eye abnormalities. The blood vessels within the eye have a creamy white color because of the excess lipid in the bloodstream. The arteries and veins are equally affected, and the only way to differentiate the two is by comparing the caliber of the vessel. The arterial light reflex is lost. The vessels appear flat, and the rest of the fundus is a uniform creamy color. Lipoprotein lipase enzyme activity can be measured, and this test is used to help diagnosis type I hyperlipoproteinemia. Eruptive xanthomas can also be seen as part of hyperlipoproteinemia type III (familial dysbetalipoproteinemia) and hyperlipoproteinemia type V. Type III has been found to be caused by a defect in the APOE gene, which encodes the apolipoprotein E protein. This protein is particularly important in clearing chylomicrons and intermediatedensity lipoproteins.
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