Pinpoint skin lesions in a familial hypercholesterolaemia homozygote.
The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). Fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and DNA analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). Serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y.


CONCLUSIONS
An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life.
Department of Internal Medicine, Medical School, University of Ioannina, Greece. hmilioni@cc.uoi.gr
H J
HJ
Milionis
G A
GA
Miltiadous
M
M
Cariolou
M S
MS
Elisaf
D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis*; D014973:Xanthomatosis / Q000209:etiology*