अमूर्त

Homozygous familial hypercholesterolemia: Treatments and needs for LDL apheresis in Tunisia

Awatef Jelassi, Afef Slimani, Imen Jguirim, Mohamed Najah, Mohamed Naceur Slimane

Familial hypercholesterolemia is an autosomal dominant inherited disorder caused by mutations in the low density lipoprotein receptor gene, the proprotein convertase subtilisin/kexin type 9 gene, the apolipoprotein B gene, and more rarely, the autosomal recessive hypercholesterolemia adaptor protein. The worldwide prevalence is about 1 case per million for homozygous, and 1 per 500 for heterozygous. In some population, the prevalence of FH is greater, presumably due to founder effects. In Tunisia, the frequency is about 1 per 165 for heterozygous and 1 per 125000 for homozygous. Treatment typically involves lipid-lowering drugs as well as mechanical removal of plasma LDL by means of apheresis. Statins are the most prescribed drugs for HoFH. Frequently, Statins alone do not lower LDLcholesterol level to therapeutic level. Combination with other pharmacological drugs such as Ezetimibe or Fenofibratemay enhance the LDL-cholesterol reduction. In the case of Statins intolerance, LDL apheresis is the best treatment option. The purpose of this review is to provide current perspectives on therapies available for FH patients, particularly LDL apheresis, in an effort to encourage the development of this therapy in Tunisia.