Drug Discoveries & Therapeutics
Online ISSN : 1881-784X
Print ISSN : 1881-7831
ISSN-L : 1881-7831
Case Report
Role of LDL apheresis in a case of homozygous familial hypercholesterolemia
Talakola NaveenAshutosh BiswasNaveet WigManish SonejaPankaj JorwalChitikela Sindhura DurgaParas SinglaCharusmita ChaudharyUpendra Baitha
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2019 Volume 13 Issue 1 Pages 59-61

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Abstract

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia characterized by the presence of high concentrations of serum low density lipoprotein (LDL) cholesterol, increased tendency to form xanthomas and early onset of coronary artery disease. This disease is an autosomal dominant disorder caused by defects in the gene that encode for the LDL receptor. Homozygous familial hypercholesterolemia is a rare occurrence and here we report a case of an 18-year-old girl with familial hypercholesterolemia treated with anti-lipidemic drugs and controlled only with LDL apheresis. The patient expired after 3 months highlighting the difficulties in management due to economic constraints in a resource limited setting in spite of availability of effective therapy.

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© 2019 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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