Homozygous familial hypercholesterolemia (HoFH) is a rare disease that involves mutations in the genes coding for low density lipoprotein (LDL) receptors, preventing the uptake of LDL cholesterol from the serum and resulting in extremely high cholesterol levels.1 Between December 2012, and January 2013, two orphan drugs were approved by the U.S. Food and Drug Administration (FDA) for the treatment of HoFH. Mipomersen (Kynamro®) is a subcutaneous injection that functions as an antisense oligonucleotide inhibitor and ultimately prevents the translation of mRNA coding for apolipoprotein B (apoB)-100 which binds to LDL and very low density lipoprotein (vLDL) cholesterol.7 Lomitapide (Juxtapid®) is an oral drug that inhibits microsomal triglyceride protein (MTP), an enteric and hepatic protein that promotes the lipid transfer to apoB and allows a complex to form. Through the inhibition of MTP, vLDL cholesterol and chylomicrons are not formed. Each of these drugs, when combined with a low-fat diet and additional lipid-lowering therapy, which may include statins, resins and LDL-apheresis, can produce a clinically significant reduction in serum LDL cholesterol.7,14 Before the approval of these two drugs, patients faced a greatly shortened lifespan, uncertain and nonspecific treatment options and serious complications secondary to HoFH.1,3-5
Ruhe A, Brown A, Daniels G, Fink K, Bright D. A Comparison of Mipomersen (Kynamro®) and Lomitapide (Juxtapid®): Medications for the Treatment of Homozygous Familial Hypercholesterolemia. PAW Review. 2014 Feb 01; 5(1):Article 1 2-7 . Available from: https://digitalcommons.onu.edu/paw_review/vol5/iss1/1.