Role of LDL apheresis in a case of homozygous familial hypercholesterolemia | Zendy

T. Naveen | Zendy; Ashutosh Biswas | Zendy; Naveet Wig | Zendy; Manish Soneja | Zendy; Pankaj Jorwal | Zendy; Chitikela Sindhura Durga | Zendy; Paras Singla | Zendy; Charusmita Chaudhary | Zendy; Upendra Baitha | Zendy

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Role of LDL apheresis in a case of homozygous familial hypercholesterolemia

Author(s) -

T. Naveen,

Ashutosh Biswas,

Naveet Wig,

Manish Soneja,

Pankaj Jorwal,

Chitikela Sindhura Durga,

Paras Singla,

Charusmita Chaudhary,

Upendra Baitha

Publication year - 2019

Publication title -

drug discoveries and therapeutics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.404

H-Index - 23

eISSN - 1881-784X

pISSN - 1881-7831

DOI - 10.5582/ddt.2019.01001

Subject(s) - familial hypercholesterolemia , medicine , ldl apheresis , apheresis , coronary artery disease , disease , ldl receptor , atherosclerotic cardiovascular disease , cholesterol , lipoprotein , gastroenterology , platelet

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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