Orphan drug approved for treatment for patient affected with rare disease familial hypercholesterolemia (HoFH)
Individuals affected with familial hypercholesterolemia have to live life with higher level of blood concentration of cholesterol and are at the risk of life, the disease is a rare disease which occurs in 1 in 1000000 individuals. Higher concentration of cholesterol in blood leads to development of atherosclerosis which result in to blockage of arteries supplying oxygenated blood to heart and brain, and might result in coronary artery disease , heart attack or brain stroke.
LDL cholesterol is considered bad cholesterol as it has low molecular weight which is in solubilised form when present in low blood concentration and high blood concentration of LDL cholesterol crystallize and settle in the form of coating over arterial walls and tissues as an insoluble hard plaque, thickening arterial walls. Patient affected with HoFH have defective gene (mutation) which is responsible for coding protein responsible for removal of LDL cholesterol out of blood circulation it is called as -- LDL receptor protein. Defective gene result in deficiency or defective formation of LDL receptor protein in patients affected with
HoFH. HoFH patients are treated with conventional lipid cholesterol lowering drugs of statin group, along with bile acid sequestrants and nicotinic acid , sometimes blood purification process similar to dialysis (LDL apheresis) is also required.
US FDA has approved a new drug juxtapid (lomitapide) which can be used to treat familial hypercholesterolemia HoFH, juxtapid (lomitapide) help in reducing LDL cholesterol and total cholesterol and non high density total cholesterol , when used along with other cholesterol lowering drugs and low fat diet.
The drug is approved by US FDA with a Risk Evaluation and Mitigation Strategy (REMS) which ensures safe use of drug starting from initiation of prescription as its administration as the drug juxtapid (lomitapide) may produce liver toxicity. It is approved as an orphan drug. See here what is orphan drug.
Mode of action of juxtapid (lomitapide) ,inhibit formation of protein responsible for synthesis of LDL cholesterol.
Side effect include : liver toxicity , nausea, diarrhea weight loss .
Importance of cholesterol in human body:
Cholesterol is a fatty substance which is very important constituent of human body, it is required for formation of cell membrane and for several important factions within cell, and it is required as precursor in biosynthesis of hormones, and bile salts and vitamins like Vitamin D3.