IMAGES IN MEDICINE
Dermatology spot diagnosis
Division of Endocrinology and Metabolism, Université de Sherbrooke, 3001 12th Avenue North, Sherbrooke, Québec, Canada J1H 5N4; Pierre.Maheux@USherbrooke.ca
Keywords: dysbetaliporoteinaemia; genetics; hyperlipidaemia; xanthomas
| The first 150 words of the full text of this article appear below. |
A 25 year old otherwise healthy man presented with painless lesions on the palmar side of both hands (fig 1A
) and elbows (fig 1B). He was not taking any medication and his family history was negative. Laboratory studies disclosed the following values: total cholesterol 24.0 mmol/l (N: 3.8–5.2), triglycerides 17.4 mmol/l (N: 0.6–2.3), HDL-C 0.80 mmol/l (N 
0.90). Serum was lactescent at 4°C after a night in hospital. Serum aspartate aminotransferase, alanine aminotransferase, and thyroid stimulating hormone were normal. A lipoprotein electrophoresis showed the presence of a broad ß band (cholesterol enriched chylomicron and VLDL remnants). The apo E genotype was confirmed to be E2/E2. Dysbetalipoproteinaemia (type III hyperlipoproteinaemia, broad-beta disease, or remnant removal disease) is a rare disorder affecting 1:5000 to 1:10 000 persons and is in part attributable to a mutation in the APOE gene resulting in reduced uptake of apo E-containing lipoproteins by the liver
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