Palmar xanthoma

This disorder has a late onset it rarely manifests itself in childhood. The most distinctive clinical presentation of dysiipoproteinemia is the presence of palmar xanthomas, the yellow deposits that occur in the creases of the palms. Tuberous and tuberoeruptive xanthomas also occur but are not unique to this syndrome. Premature atherosclerosis develops in 30% to more than 50% of these patients, particularly in the lower extremities. ... 

Fig. 3 Palmar xanthomas before (a) and after (b) treatment. Table 2 Lipid-lowering drugs...

Familial dysbetalipoproteinemia (type III) is characterized by the accumulation of chylomicron and VLDL remnants, which are enriched in cholesterol compared to their precursors. The primary molecular cause of familial dysbetalipoproteinemia (type III) is the homozygous presence of the apolipoprotein E2 (apoE2) isoform, which is associated with recessive inheritance of the disorder [62]. However, only 1 in 50 homozygotes for apoE2 will develop type III hyperlipoproteinemia, which is clinically characterized by palmar and tuberous xanthomas, arcus lipoides, and premature atherosclerosis of coronary, peripheral, and cerebral arteries. Precipitating factors include diabetes mellitus, renal disease, hemochromatosis, but also familial hypercholesterolemia. In addition, some rare mutations in the apoE gene have been found to cause dominant and more penetrant forms of type III hyperlipoproteinemia. 

Patients with type III hyperlipoproteinemia exhibit increased plasma cholesterol and triacylglycerol and the presence of 6-VLDL. Dysbetalipoproteinemics are prone to premature vascular disease, eruptive xanthomas on elbows and knees, and planar xanthomas in the palmar and digital creases. These patients respond well to therapy. Dietary therapy is preferred, but drug therapy (see below) may also be necessary. 

Dysbetalipoproteinemia TG = 2.8-8.S (250-750) TC = 6.5-13 (250-500) VLDL, IDL LDL normal Ml Usually asymptomatic until vascular disease develops may have palmar or tuboeruptive xanthomas... 

Details of his family history with respect to coronary heart disease should be obtained. Palmar or tuberous xanthomas should be looked for and, if present, would suggest Type III hyperlipidaemia. His Apo E genotype should then be established. 

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