Role of LDL apheresis in a case of homozygous familial hypercholesterolemia.

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.

• Authors: Talakola Naveen, Ashutosh Biswas, Naveet Wig, Manish Soneja, Pankaj Jorwal, Chitikela Sindhura Durga, Paras Singla, Charusmita Chaudhary, Upendra Baitha
• Journal: Drug discoveries & therapeutics (Drug Discov Ther) Vol. 13 Issue 1 Pg. 59-61 ( 2019) ISSN: 1881-784X [Electronic] Japan
• PMID: 30880324 (Publication Type: Case Reports, Journal Article)

Chemical References

• Lipoproteins, LDL

Topics

• Adolescent
• Blood Component Removal (methods)
• Female
• Homozygote
• Humans
• Hyperlipoproteinemia Type II (blood, diagnosis, genetics, therapy)
• Lipoproteins, LDL (blood)