familial hypercholesterolemia (fh) is a group of genetic disorders that result in severe elevations of blood cholesterol levels. despite being of one the most common serious genetic disorders few people know about fh unless their life is affected in some way. the prevalence of fh is 1 in 300 to 500 in many populations. there are over 620 000 fh patients currently living in the united states. many of these people are unaware that their risk of premature coronary heart disease is elevated about 20-fold in patients that have not been treated. there are two different types of fh patients. the most serious type is called the homozygous form. this means that the genetic defect was inherited from both parents. homozygous fh type occurs in 1 out of every 1 000 000 individuals and is associated with the rapid and premature development of coronary heart disease in childhood or adolescence. many of these patients never live to see their second or third decade of life. the heterozygous form of fh means that that the genetic defect was inherited from one parent and is much more common. in certain populations such as french canadians the prevalence may be as high as 1 in 100. fh is a treatable disease. in addition to diet and lifestyle modification medications are an essential tool in management. some patients may require ldl apheresis which is a method of removing the bad cholesterol from the blood. some patients with the homozygote form have required liver transplantation to treat the disease.
what is familial hypercholesterolemia?