Role of LDL apheresis in a case of homozygous familial hypercholesterolemia

被引：1

作者：

Naveen, Talakola ^{[1
]}

Biswas, Ashutosh ^{[1
]}

Wig, Naveet ^{[1
]}

Soneja, Manish ^{[1
]}

Jorwal, Pankaj ^{[1
]}

Durga, Chitikela Sindhura ^{[1
]}

Singla, Paras ^{[1
]}

Chaudhary, Charusmita ^{[2
]}

Baitha, Upendra ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Med, Room 3094-A,3rd Floor, New Delhi 110029, India

[2] All India Inst Med Sci, Dept Radiodiag, New Delhi, India

来源：

DRUG DISCOVERIES AND THERAPEUTICS | 2019年 / 13卷 / 01期

关键词：

Autosomal dominant; xanthoma; coronary artery disease; RECEPTOR GENE;

D O I：

10.5582/ddt.2019.01001

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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 antilipidemic 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.

引用

页码：59 / 61

页数：3

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