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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 . . . [Full text of this article]