Familial Hypercholesterolemia

July 8, 2014 | Technology Forecasts


​Familial hypercholesterolemia (FH) is a genetic disorder that causes severely elevated blood levels of low-density lipoprotein (LDL) cholesterol and total cholesterol. The genetic defect that causes FH makes the body unable to remove LDL cholesterol from the blood.1 FH can cause premature onset of coronary artery disease (CAD), myocardial infarction (MI), and cardiac-related death.2,3

People who inherit a single copy of the mutated LDL receptor gene have heterozygous FH. Overall prevalence of heterozygous FH in the United States and Europe is about 1 in 500 people, but the condition may be more common in certain regions, such as Iceland and Finland, or in certain ethnic groups, such as French Canadian, Lebanese, Ashkenazi Jewish, and Afrikaner.2 People who inherit the genetic mutation from both parents have homozygous FH, which occurs in approximately 1 in 1 million individuals.2 In homozygous FH, survival beyond young adulthood (i.e., about age 30 years) is unlikely. No accurate mortality statistics...

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