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.
Milionis
H J
HJ
Department of Internal Medicine, Medical School, University of Ioannina, Greece. hmilioni@cc.uoi.gr
Miltiadous
G A
GA
Cariolou
M
M
Elisaf
M S
MS
D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis*; D014973:Xanthomatosis / Q000209:etiology*