Living with Homozygous familial hypercholesterolemia
A genetic condition that causes very high cholesterol, raising the risk of heart and blood vessel disease from an early age.
Understanding Homozygous familial hypercholesterolemia
It is due to changes in the LDLR gene. People have a high risk of coronary artery disease and buildup of cholesterol in other tissues, such as tendons and skin. Other genes, including APOB, LDLRAP1, and PCSK9, can cause other hereditary forms. Most high cholesterol is not from one inherited condition. It may be seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chest pain (angina)
- Shortness of breath
- Cholesterol buildup in tendons
- Heart murmur
- High blood pressure
- Plaque in heart arteries (coronary artery disease)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Family Heart Foundation and Foundation of the National Lipid Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Family Heart Foundation, Foundation of the National Lipid Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Family Heart Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LDLR gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance, and says it tends to pass through families in an autosomal dominant way.
Also known as: familial homozygous hypercholesterolemia; familial hypercholesterolemia - homozygous; hofh
Patient organizations
- Family Heart FoundationHomozygous familial hypercholesterolemia · United States
- Foundation of the National Lipid AssociationHomozygous familial hypercholesterolemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Homozygous familial hypercholesterolemia.
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