Overview
Familial lipase maturation factor 1 deficiency (also called LMF1 deficiency) is a rare inherited condition that affects how the body processes fats in the blood. The disease is caused by changes (mutations) in the LMF1 gene, which provides instructions for making a protein that helps certain fat-breaking enzymes — called lipases — work properly. Without this protein, two key enzymes called lipoprotein lipase (LPL) and hepatic lipase cannot mature and function correctly. As a result, fats called triglycerides build up to very high levels in the blood, a condition known as severe hypertriglyceridemia. When triglycerides reach extremely high levels, they can cause serious problems throughout the body. The most dangerous complication is acute pancreatitis — a sudden and very painful inflammation of the pancreas. People with this condition may also develop yellowish fatty deposits under the skin called xanthomas, and may experience abdominal pain, nausea, and other digestive symptoms. The eyes can also be affected, with a milky appearance to the blood vessels at the back of the eye. Treatment focuses mainly on lowering triglyceride levels through a very strict low-fat diet and medications. There is currently no cure for LMF1 deficiency. Managing the condition carefully can reduce the risk of dangerous pancreatitis attacks and improve quality of life. This disease is classified under familial hyperchylomicronemia syndromes and shares features with other inherited fat metabolism disorders.
Also known as:
Key symptoms:
Very high levels of triglycerides (fats) in the bloodSevere abdominal pain, especially after eating fatty foodsRepeated episodes of pancreatitis (painful inflammation of the pancreas)Nausea and vomitingYellowish bumps or deposits under the skin (eruptive xanthomas)Milky or creamy appearance of blood when drawnFatty deposits visible in the blood vessels at the back of the eye (lipemia retinalis)Enlarged liver or spleenFatigue and general feeling of being unwellPoor appetite
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 lipase maturation factor 1 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial lipase maturation factor 1 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 lipase maturation factor 1 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 lipase maturation factor 1 deficiency.
Community
No community posts yet. Be the first to share your experience with Familial lipase maturation factor 1 deficiency.
Start the conversation →Latest news about Familial lipase maturation factor 1 deficiency
No recent news articles for Familial lipase maturation factor 1 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 safe for me, and how often should I have blood tests to check it?,What exactly can I eat, and are there resources or a dietitian who specializes in this condition who can help me plan meals?,What should I do — and where should I go — if I develop sudden severe stomach pain?,Are there any medications that might help lower my triglyceride levels, and what are the risks and benefits?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments being studied that I might be eligible for?,How will this condition affect my long-term health, and what complications should I watch for over time?
Common questions about Familial lipase maturation factor 1 deficiency
What is Familial lipase maturation factor 1 deficiency?
Familial lipase maturation factor 1 deficiency (also called LMF1 deficiency) is a rare inherited condition that affects how the body processes fats in the blood. The disease is caused by changes (mutations) in the LMF1 gene, which provides instructions for making a protein that helps certain fat-breaking enzymes — called lipases — work properly. Without this protein, two key enzymes called lipoprotein lipase (LPL) and hepatic lipase cannot mature and function correctly. As a result, fats called triglycerides build up to very high levels in the blood, a condition known as severe hypertriglyceri
How is Familial lipase maturation factor 1 deficiency inherited?
Familial lipase maturation factor 1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.