Overview
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious genetic condition that causes extremely high levels of LDL cholesterol — often called "bad cholesterol" — in the blood from birth. It is also sometimes referred to as homozygous FH. In this condition, a person inherits two copies of a faulty gene (one from each parent), which means the body's ability to remove LDL cholesterol from the blood is severely impaired or completely absent. As a result, cholesterol builds up in the walls of arteries at a very young age, leading to a condition called atherosclerosis (hardening and narrowing of the arteries). People with HoFH typically have LDL cholesterol levels above 500 mg/dL (sometimes exceeding 1,000 mg/dL), which is roughly five to ten times higher than normal. Visible signs can appear in childhood, including yellowish fatty deposits under the skin (xanthomas), especially on the hands, elbows, knees, and Achilles tendons, as well as a grayish-white ring around the cornea of the eye (corneal arcus). Without treatment, heart attacks and severe cardiovascular disease can occur in childhood or the teenage years. The treatment landscape for HoFH has expanded significantly in recent years. Traditional cholesterol-lowering medications like statins are used but are often not enough on their own. Newer therapies include lomitapide, evinacumab, and PCSK9 inhibitors. A procedure called LDL apheresis, which physically filters cholesterol from the blood (similar to dialysis), is a cornerstone of treatment. Liver transplantation has also been performed in severe cases. Early and aggressive treatment is essential to prevent life-threatening cardiovascular events.
Also known as:
Key symptoms:
Extremely high cholesterol levels from birthYellowish fatty bumps on the skin (xanthomas), especially on hands, elbows, knees, and tendonsFatty deposits on the Achilles tendonGray or white ring around the colored part of the eye (corneal arcus)Chest pain or angina at a young ageHeart attack in childhood, teens, or young adulthoodNarrowing of the aortic valve (aortic stenosis)Shortness of breath with exertionFatty deposits around the eyelids (xanthelasma)Fatigue or reduced exercise toleranceBlockages in arteries throughout the body
Clinical phenotype terms (33)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsFondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Arrowhead Pharmaceuticals — PHASE3
Eddingpharm (Zhuhai) Co., Ltd. — PHASE2
Beijing Suncadia Pharmaceuticals Co., Ltd — PHASE2
Arrowhead Pharmaceuticals — PHASE3
Brigham and Women's Hospital — NA
Visirna Therapeutics HK Limited — PHASE3
Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
7 availableLeqvio
as an adjunct to diet and exercise to reduce low-density lipoprotein cholesterol (LDL-C) in pediatric patients aged 12 years and older with homozygous familial hypercholesterolemia (HoFH)
Praluent
as an adjunct to diet and exercise to reduce low- density lipoprotein cholesterol (LDL-C) in adults with homozygous familial hypercholesterolemia (HoFH)
Evkeeza
as an adjunct to other low-density lipoprotein-cholesterol (LDL-C) lowering therapies for the treatment of adult and pediatric patients, aged 5 years and older, with homozygous familial hypercholester…
as an adjunct to other low-density lipoprotein-cholesterol (LDL-C) lowering therapies for the treatment of adult and pediatric patients, aged 5 years and older, with homozygous familial hypercholesterolemia (HoFH)
Crestor
An adjunct to diet to reduce LDL-C, Total-C, nonHDL-C and ApoB in children and adolescents 7 to 17 years of age with homozygous familial hypercholesterolemia, either alone or with other lipid-lowering…
An adjunct to diet to reduce LDL-C, Total-C, nonHDL-C and ApoB in children and adolescents 7 to 17 years of age with homozygous familial hypercholesterolemia, either alone or with other lipid-lowering treatments (e.g., LDL apheresis).
Repatha
As an adjunct to diet and other LDL-lowering therapies (e.g., statins, ezetimibe, LDL apheresis) in patients with HoFH who require additional lowering of LDL-C.
KYNAMRO
Adjunct to lipid-lowering medications and diet to reduce low density lipoprotein-cholesterol (LDL-C), apolipoprotein B (apo B), total cholesterol (TC), and non-high density lipoprotein-cholesterol (no…
Adjunct to lipid-lowering medications and diet to reduce low density lipoprotein-cholesterol (LDL-C), apolipoprotein B (apo B), total cholesterol (TC), and non-high density lipoprotein-cholesterol (non-HDL-C) in patients with homozygous familial hypercholesterolemia (HoFH).
Juxtapid
Adjunct to a low-fat diet and other lipid-lowering treatments, including LDL apheresis where available, to reduce low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), apolipoprotein B …
Adjunct to a low-fat diet and other lipid-lowering treatments, including LDL apheresis where available, to reduce low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), apolipoprotein B (apo B), and non-high-density lipoprotein cholesterol (non-HDL-C) in patients with homozygous familial hypercholesterolemia (HoFH).
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersHospices Civils de Lyon
📍 Bron
👤 Jerome Honnorat, Pr
👤 Sebastien HASCOËT
CHU Nantes
📍 Nantes
👤 Sebastien HASCOËT
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Financial Resources
5 resourcesTravel Grants
No travel grants are currently matched to Homozygous familial hypercholesterolemia.
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Questions for your doctor
Bring these to your next appointment
- Q1.What is my (or my child's) current LDL cholesterol level, and what is our target goal?,How soon should we start LDL apheresis, and how often will it be needed?,Which medications are recommended, and what are their side effects?,Am I (or is my child) eligible for newer treatments like evinacumab or lomitapide?,How often should we have cardiac imaging to check for heart and artery damage?,Should other family members be tested for familial hypercholesterolemia?,Are there any clinical trials or new therapies we should consider?
Common questions about Homozygous familial hypercholesterolemia
What is Homozygous familial hypercholesterolemia?
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious genetic condition that causes extremely high levels of LDL cholesterol — often called "bad cholesterol" — in the blood from birth. It is also sometimes referred to as homozygous FH. In this condition, a person inherits two copies of a faulty gene (one from each parent), which means the body's ability to remove LDL cholesterol from the blood is severely impaired or completely absent. As a result, cholesterol builds up in the walls of arteries at a very young age, leading to a condition called atherosclerosis (hardening and na
How is Homozygous familial hypercholesterolemia inherited?
Homozygous familial hypercholesterolemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Homozygous familial hypercholesterolemia typically begin?
Typical onset of Homozygous familial hypercholesterolemia is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Homozygous familial hypercholesterolemia?
Yes — 14 recruiting clinical trials are currently listed for Homozygous familial hypercholesterolemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Homozygous familial hypercholesterolemia?
25 specialists and care centers treating Homozygous familial hypercholesterolemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Homozygous familial hypercholesterolemia?
6 patient support programs are currently tracked on UniteRare for Homozygous familial hypercholesterolemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.