Overview
Rare hypercholesterolemia refers to unusually high levels of cholesterol in the blood that are caused by rare genetic conditions. Unlike the more common forms of high cholesterol that are linked to diet and lifestyle, rare hypercholesterolemia is driven by inherited changes in genes that control how the body processes and removes cholesterol. The most well-known form is Familial Hypercholesterolemia (FH), but this Orphanet category also covers other rare genetic causes of severely elevated cholesterol. When cholesterol builds up in the blood over time, it can deposit in the walls of arteries, causing them to narrow and harden. This raises the risk of heart attack and stroke, sometimes at a very young age. People may also develop yellowish fatty deposits called xanthomas on their skin or tendons, and cholesterol rings around the eyes called corneal arcus. Some people have no obvious symptoms until a serious heart event occurs. Treatment usually involves a combination of cholesterol-lowering medications such as statins, ezetimibe, and newer drugs like PCSK9 inhibitors (for example, evolocumab and alirocumab). In the most severe cases, a procedure called LDL apheresis — which filters cholesterol from the blood — may be needed. Early diagnosis and treatment are very important to reduce the risk of heart disease.
Key symptoms:
Very high LDL ('bad') cholesterol levels in blood testsYellowish fatty skin deposits (xanthomas) on elbows, knees, or handsFatty deposits on tendons, especially the Achilles tendonYellowish deposits around the eyelids (xanthelasmas)Grayish-white ring around the colored part of the eye (corneal arcus)Chest pain or angina, especially with exertionHeart attack, sometimes at a young ageStroke or mini-stroke (TIA)Narrowing of heart arteries (coronary artery disease)Family history of early heart disease
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsQilu Pharmaceutical Co., Ltd. — PHASE3
Assistance Publique - Hôpitaux de Paris — NA
CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. — PHASE3
Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine — EARLY_PHASE1
Nantes University Hospital — NA
LIB Therapeutics LLC — PHASE3
Merck Sharp & Dohme LLC — PHASE2, PHASE3
Novartis Pharmaceuticals
Children's Hospital of Fudan University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Rare hypercholesterolemia.
20 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Rare hypercholesterolemia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 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
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare hypercholesterolemia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing my high cholesterol, and what does that mean for my treatment?,At what LDL level should I start medication, and which medication is right for me?,Should my children or siblings be tested for this condition?,How often do I need heart monitoring, such as stress tests or imaging?,Are there newer treatments like PCSK9 inhibitors or gene therapy that I should consider?,What lifestyle changes will make the biggest difference alongside my medication?,What are the warning signs I should watch for that would require emergency care?
Common questions about Rare hypercholesterolemia
What is Rare hypercholesterolemia?
Rare hypercholesterolemia refers to unusually high levels of cholesterol in the blood that are caused by rare genetic conditions. Unlike the more common forms of high cholesterol that are linked to diet and lifestyle, rare hypercholesterolemia is driven by inherited changes in genes that control how the body processes and removes cholesterol. The most well-known form is Familial Hypercholesterolemia (FH), but this Orphanet category also covers other rare genetic causes of severely elevated cholesterol. When cholesterol builds up in the blood over time, it can deposit in the walls of arteries,
Are there clinical trials for Rare hypercholesterolemia?
Yes — 20 recruiting clinical trials are currently listed for Rare hypercholesterolemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.