Overview
Rare syndromic dyslipidemia refers to a group of uncommon genetic conditions where abnormal levels of fats (lipids) in the blood — such as cholesterol and triglycerides — occur alongside other physical or developmental features as part of a broader syndrome. Unlike common forms of high cholesterol that many people experience, syndromic dyslipidemia is caused by specific genetic changes and is accompanied by additional health problems that can affect multiple body systems. These additional features may include unusual body fat distribution, liver problems, hormonal imbalances, or other organ involvement depending on the specific syndrome. The lipid abnormalities in these conditions can lead to early cardiovascular disease, including heart attacks and strokes, if not properly managed. Some forms may also cause inflammation of the pancreas (pancreatitis) due to very high triglyceride levels. Because these are syndromic conditions, patients often have a combination of symptoms beyond just abnormal blood fats, which can sometimes delay diagnosis. Treatment typically focuses on managing lipid levels through diet, lifestyle changes, and medications, while also addressing the other features of the syndrome. Early diagnosis through genetic testing is important so that appropriate monitoring and preventive care can be started. The treatment landscape continues to evolve, with newer lipid-lowering therapies becoming available that may benefit some patients with these rare conditions.
Key symptoms:
Abnormally high cholesterol levelsHigh triglyceride levels in the bloodFatty deposits under the skin (xanthomas)Yellowish deposits around the eyes (xanthelasma)Unusual body fat distributionEnlarged liverEarly heart disease or atherosclerosisAbdominal pain from pancreatitisHormonal imbalancesFatty liver diseaseGrowth or developmental differencesSkin abnormalitiesVision changes due to lipid deposits in the eye
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare syndromic dyslipidemia.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Rare syndromic dyslipidemia.
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 syndromic dyslipidemia.
Community
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Start the conversation →Latest news about Rare syndromic dyslipidemia
1 articlesCaregiver 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.What specific type of syndromic dyslipidemia do I or my child have, and what gene is involved?,What are the main health risks I should be aware of, and how can we reduce them?,Which lipid-lowering medications are most appropriate for my specific condition?,How often should I have blood tests and cardiovascular monitoring?,Are there dietary changes that could help manage my lipid levels?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments being studied for my condition?
Common questions about Rare syndromic dyslipidemia
What is Rare syndromic dyslipidemia?
Rare syndromic dyslipidemia refers to a group of uncommon genetic conditions where abnormal levels of fats (lipids) in the blood — such as cholesterol and triglycerides — occur alongside other physical or developmental features as part of a broader syndrome. Unlike common forms of high cholesterol that many people experience, syndromic dyslipidemia is caused by specific genetic changes and is accompanied by additional health problems that can affect multiple body systems. These additional features may include unusual body fat distribution, liver problems, hormonal imbalances, or other organ in