Overview
Familial GPIHBP1 deficiency is a rare inherited condition that causes extremely high levels of fat (specifically triglycerides) in the blood. It is also sometimes called GPIHBP1-related hyperchylomicronemia or familial chylomicronemia due to GPIHBP1 deficiency. The disease is caused by changes (mutations) in the GPIHBP1 gene, which provides instructions for making a protein that helps an important enzyme called lipoprotein lipase (LPL) work properly. Without this protein working correctly, the body cannot break down fat particles in the blood called chylomicrons, causing them to build up to dangerous levels. The most serious consequence of very high triglycerides is a painful and potentially life-threatening inflammation of the pancreas called acute pancreatitis. People with this condition may also develop yellowish fatty deposits under the skin (xanthomas), an enlarged liver or spleen, and a milky appearance to their blood. Abdominal pain is a very common complaint, even outside of full pancreatitis attacks. Treatment focuses mainly on a very strict low-fat diet to reduce triglyceride levels and prevent pancreatitis episodes. There are no widely approved curative treatments specifically for GPIHBP1 deficiency, though gene therapy and other approaches are being studied. Management is lifelong and requires close monitoring by a specialist team.
Also known as:
Key symptoms:
Severe abdominal pain, especially after eating fatty foodsRepeated episodes of pancreatitis (painful inflammation of the pancreas)Milky or creamy appearance of blood when drawnYellowish bumps under the skin (eruptive xanthomas), often on the back, buttocks, or armsEnlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Nausea and vomitingFatigue and general feeling of being unwellPale, fatty-looking stoolsMemory problems or difficulty concentrating (sometimes linked to very high triglycerides)Eye changes such as lipemia retinalis (creamy appearance of blood vessels in the eye)
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 GPIHBP1 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial GPIHBP1 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Familial GPIHBP1 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 GPIHBP1 deficiency.
Community
No community posts yet. Be the first to share your experience with Familial GPIHBP1 deficiency.
Start the conversation →Latest news about Familial GPIHBP1 deficiency
No recent news articles for Familial GPIHBP1 deficiency.
Follow this condition to be notified when news becomes available.
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 is my target, and how often should I have blood tests to check it?,Exactly how much fat can I eat each day, and are there specific types of fat I should completely avoid?,What should I do if I develop sudden severe stomach pain — when should I go to the emergency room?,Are there any medications that might help lower my triglycerides, and am I a candidate for any clinical trials?,Should my family members be tested for this condition?,Can I work with a dietitian who specializes in metabolic disorders to help me plan my meals?,What are the long-term risks to my pancreas, and how can I best protect it?
Common questions about Familial GPIHBP1 deficiency
What is Familial GPIHBP1 deficiency?
Familial GPIHBP1 deficiency is a rare inherited condition that causes extremely high levels of fat (specifically triglycerides) in the blood. It is also sometimes called GPIHBP1-related hyperchylomicronemia or familial chylomicronemia due to GPIHBP1 deficiency. The disease is caused by changes (mutations) in the GPIHBP1 gene, which provides instructions for making a protein that helps an important enzyme called lipoprotein lipase (LPL) work properly. Without this protein working correctly, the body cannot break down fat particles in the blood called chylomicrons, causing them to build up to da
How is Familial GPIHBP1 deficiency inherited?
Familial GPIHBP1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.