Familial hypercholesterolemia, or FH, is a genetic disorder that makes the body unable to remove low density lipoprotein (LDL), or “bad” cholesterol, from the blood. This bad cholesterol can then build up and cause the arteries to narrow from atherosclerosis at an early age. This raises the risk for heart disease and heart attack.
Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia. In the case that an individual inherits two copies - one from each parent - the amount of LDL cholesterol is more severe.
Early in life, there may be no symptoms.
Possible symptoms include:
Genetics Home Reference - www.ghr.nlm.nih.gov
The American Heart Association - www.heart.org
NIH- National Human Genome Research Institute - www.genome.gov
Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About -- a blog post from the National Society of Genetic Counselors - www.nsgc.org
FH Foundation - a patient-centered non-profit dedicated to research, advocacy, and education of all forms of familial hypercholesterolemia - thefhfoundation.org