Signs and symptoms in individuals with the
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,
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Autosomal dominant inheritance||0000006|
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol[ more ]
Fatty deposits in skin around the eyes
Fatty deposits on eyelids[ more ]
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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