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Homozygous hypercholesterolaemia and ezetimibe: a case report
Author(s) -
Hendriksz CJ,
Norbury G,
Tabrah S,
Taylor A,
Humphries SE
Publication year - 2004
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2004.tb00723.x
Subject(s) - medicine , ezetimibe , ldl cholesterol , intensive care medicine , cholesterol
A girl of Indian origin presented with unusual nodules on her hands, and total cholesterol was found to be >25 mmol/L. The girl had “mild” P664L mutation and total cholesterol levels fell by 38% when she was on a diet and statin therapy. A further reduction of 26% in total cholesterol and 37% in low‐density lipoprotein (LDL) was achieved by adding ezetimibe to the treatment. Conclusion : A case of homozygous hypercholesterolaemia is reported in order to highlight treatment options such as liver transplantation, LDL‐aphaeresis and treatment with ezetimibe.