Treating Out Of Control Cholesterol

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FLORIDA —

Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol levels starting at birth.  It can also cause heart attacks at an early age.   Cholesterol is found in the cells of the body and can also be found in some foods.  The body does need some cholesterol to function properly and it uses cholesterol to produce hormones, vitamin D, and substances that help with food digestion.  If there is too much cholesterol in the blood stream, then it can build up in the artery walls and can increase the risk of heart disease.  Cholesterol is carried in the blood stream in packages called lipoproteins.  They are made up of fat (lipid) on the inside and proteins on the outside.  Two kinds of lipoprotein carry cholesterol throughout the body: low density lipoprotein (LDL) and high density lipoprotein (HDL). (Source: http://www.genome.gov/25520184)

LDL vs. HDL:  Cholesterol that is carried by LDL is also called the “bad cholesterol.”  People with familial hypercholesterolemia have high levels of LDL because they cannot remove the LDL from the blood stream.  The cholesterol carried by the HDL is called the “good cholesterol.”  It carries cholesterol from other parts of the body to the liver.  The liver then removes cholesterol from the body.  High levels of HDL will lower a person’s risk for getting heart disease.  (Source: http://www.genome.gov/25520184)

HOMOZYGOUS: The gene mutation that is responsible for familial hypercholesterolemia is on chromosome 19 and it contains the information for a protein called LDL receptor.  LDL receptor clears up LDL from the blood stream.  One out of 500 people carry one altered gene causing familial hypercholesterolemia.  These people are called heterozygotes.  When a person inherits the gene mutation from both parents, they are called homozygous familial hypercholesterolemia (HoFH).  These individuals have a much more severe form of hypercholesterolemia.  Heart attacks and death usually occur before the age of 30.  (Source: http://www.genome.gov/25520184)

NEW TECHNOLOGY:  The goal of treatment is to lower the LDL cholesterol levels in the blood stream.  Drug therapy is usually needed combined with weight loss, diet, and exercise.  The most effective choice are drugs called “statins.”  However, those who have homozygous familial hypercholesterolemia need aggressive therapies.  Drug therapies are usually not sufficient to lower LDL cholesterol levels.  (Source: http://www.genome.gov/25520184) The FDA approval of Kynamro injection, along with diet and lipid-lowering medications is now an option for patients with HoFH.  Kynamro helps reduce LDL, total cholesterol, apolipoprotein B, and non-high density lipoprotein-cholesterol.  It is injected one a week.  The safety of this drug was evaluated in a clinical trial of 51 patients with HoFH.  The levels fell in about 25% of patients during the first 26 weeks in those who received the injection.  However, there is a Boxed Warning on Kynamro of the serious risk of liver toxicity because it is correlated with liver enzyme abnormalities and accumulation of fat in the liver, which could possibly lead to progressive liver disease with chronic use.  (Source: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm337195.htm)