Open AccessHomozygous familial hypercholesterolemia
Author(s) -
Ravi Kumar Parihar,
Mohd. Razaq,
Ghanshyam Saini
Publication year - 2012
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.98032
Subject(s) - familial hypercholesterolemia , medicine , lipid metabolism , lipid metabolism disorder , lipid profile , pediatrics , cholesterol , blood lipids
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.