Familial hypercholesterolaemia--a case report.
A case report of a 9-year-old female presenting with cutaneous xanthoma and other findings suggestive of homozygous familial hypercholesterolaemia along with abnormalities in serum lipid profile in other siblings is presented in view of its rarity.
Basu Mullick
C
C
Department of Biochemistry, Medical College, Kolkata 700073.
Basu Das
Bandita
B
Chatterjee
Sourangsu
S
Bhattacharya
Gorachand
G
Biswas
Shyamali
S
D002648:Child; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics; D008297:Male; D011973:Receptors, LDL / Q000235:genetics; D035781:Siblings; D014973:Xanthomatosis / Q000175:diagnosis / Q000235:genetics
D011973:Receptors, LDL