Overview
Familial apolipoprotein A5 deficiency is a rare inherited condition that affects how your body handles fats in the blood, especially a type of fat called triglycerides. The disease is caused by changes (mutations) in the APOA5 gene, which normally helps your body break down and clear triglycerides from the bloodstream. When this gene does not work properly, triglycerides build up to very high levels in the blood — a condition called severe hypertriglyceridemia. This disease is also sometimes referred to as APOA5 deficiency or familial hypertriglyceridemia due to APOA5 mutations. Having very high triglyceride levels can cause serious problems throughout the body. The most dangerous complication is acute pancreatitis, which is a sudden and severe inflammation of the pancreas that can be life-threatening. Over time, high triglycerides can also increase the risk of heart and blood vessel disease. Some people develop yellowish fatty deposits under the skin called xanthomas, and the blood can take on a milky appearance due to the excess fat. Treatment focuses on lowering triglyceride levels through a very strict low-fat diet, avoiding alcohol, and using medications such as fibrates or omega-3 fatty acids. There is currently no cure, but with careful management, many people can reduce their risk of dangerous complications. Regular monitoring by a specialist is essential to keep triglyceride levels under control and protect long-term health.
Key symptoms:
Very high levels of fat (triglycerides) in the bloodSudden, severe abdominal pain from pancreatitisNausea and vomitingMilky or creamy appearance of the bloodYellowish fatty bumps on the skin (xanthomas), especially on elbows, knees, or buttocksFatty deposits in the eyes (lipemia retinalis)Abdominal discomfort or bloatingFatigue and general feeling of being unwellEnlarged liver or spleenIncreased risk of heart and blood vessel disease over time
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial apolipoprotein A5 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Familial apolipoprotein A5 deficiency.
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 Familial apolipoprotein A5 deficiency.
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.What triglyceride level should I aim for, and how often should I have blood tests?,Exactly how much fat can I eat each day, and are there specific foods I must completely avoid?,What should I do if I develop sudden severe stomach pain — when should I go to the emergency room?,Are there any new medications or clinical trials I should know about for APOA5 deficiency?,Should my family members be tested for this condition?,How will this condition affect my risk of heart disease, and what can I do to protect my heart?,Can you refer me to a dietitian who specializes in metabolic fat disorders?
Common questions about Familial apolipoprotein A5 deficiency
What is Familial apolipoprotein A5 deficiency?
Familial apolipoprotein A5 deficiency is a rare inherited condition that affects how your body handles fats in the blood, especially a type of fat called triglycerides. The disease is caused by changes (mutations) in the APOA5 gene, which normally helps your body break down and clear triglycerides from the bloodstream. When this gene does not work properly, triglycerides build up to very high levels in the blood — a condition called severe hypertriglyceridemia. This disease is also sometimes referred to as APOA5 deficiency or familial hypertriglyceridemia due to APOA5 mutations. Having very h
How is Familial apolipoprotein A5 deficiency inherited?
Familial apolipoprotein A5 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.