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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Is familial hypercholesterolemia more common in certain populations? If so, how would this happen? See answer
How does diet affect the blood levels of LDL in people with familial hypercholesterolemia? See answer
I have been researching familial hypercholesterolemia. A couple of web sites have called it autosomal dominant. If I remember correctly that would mean that in order for a person to have FH, he would have to have a parent with FH. Is my thinking correct on this matter? See answer
What are the signs and symptoms of familial hypercholesterolemia? What genes cause this condition? See answer