Your QuestionWhat are the signs and symptoms of familial hypercholesterolemia? What genes cause this condition?
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- Elevated total and LDL cholesterol levels
- Coronary heart disease which can cause angina (heart pain), nonfatal or fatal heart attacks, need for angioplasty, or sudden death
- Cerebrovascular disease which may cause stroke or transient ischemic attack (TIA)
- Peripheral vascular disease which may cause pain when walking that is relieved by rest
- Aortic aneurysm that may rupture, causing catastrophic bleeding and often death
- Xanthomas (firm nodules under the skin caused by deposition of cholesterol on tendons)
- Corneal arcus (an opaque, white line within the margin of the cornea that is above or surrounds the cornea)
- Xanthelasmas (cholesterol deposits on, above or under the eyelids)
Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s.
Individuals with the rare, autosomal recessive form of FH (also called homozygous FH) develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy. In individuals with this form of FH, heart attacks and/or death may occur before age 30, sometimes in young children if they are not aggressively treated.
Familial hypercholesterolemia is caused by mutations in the LDLR gene which is located on chromosome 19. The defect makes the body unable to remove LDL cholesterol from the bloodstream. This results in consistently high levels of LDL in the blood, which leads to atherosclerosis at an early age as well as deposits of cholesterol in other tissues like the skin and tendons.
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- Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; http://www.genome.gov/25520184. Accessed 10/22/2013.
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