Overview
Combined pancreatic lipase-colipase deficiency is an extremely rare inherited condition that affects the body's ability to digest dietary fats. The pancreas normally produces two important proteins — pancreatic lipase and colipase — that work together to break down fats from the food you eat. In this condition, both of these proteins are missing or do not work properly. Without them, fat passes through the digestive system without being absorbed, leading to a condition called fat malabsorption or steatorrhea. The main symptoms typically appear in infancy or early childhood and include greasy, foul-smelling stools (steatorrhea), poor weight gain, failure to thrive, and possible deficiencies in fat-soluble vitamins (A, D, E, and K). Children may have bloating, abdominal discomfort, and diarrhea after eating fatty foods. Because fat is an important source of calories and essential fatty acids, untreated children may experience growth delays and nutritional problems. Treatment focuses on replacing the missing enzymes using pancreatic enzyme replacement therapy (PERT), which is taken with meals and snacks. Dietary modifications, including adjusting fat intake and supplementing fat-soluble vitamins, are also important parts of management. With proper treatment, most patients can lead relatively normal lives, though lifelong enzyme supplementation is typically required.
Key symptoms:
Greasy, oily, foul-smelling stoolsDiarrhea after eating fatty foodsPoor weight gain in infancy and childhoodFailure to thriveBloating and abdominal discomfortExcessive gasGrowth delaysFat-soluble vitamin deficiencies (vitamins A, D, E, K)Dry skin or skin problems from vitamin deficiencyEasy bruising from vitamin K deficiencyBone weakness from vitamin D deficiencyFatigue and low energyLarge, bulky stools that may float
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Combined pancreatic lipase-colipase deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined pancreatic lipase-colipase deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Combined pancreatic lipase-colipase 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 Combined pancreatic lipase-colipase deficiency.
Community
No community posts yet. Be the first to share your experience with Combined pancreatic lipase-colipase deficiency.
Start the conversation →Latest news about Combined pancreatic lipase-colipase deficiency
No recent news articles for Combined pancreatic lipase-colipase 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 is the correct dose of pancreatic enzymes for my child's age and weight?,How should we adjust enzyme doses as my child grows or eats different amounts of fat?,Which fat-soluble vitamins need to be supplemented, and how often should levels be checked?,Are there any dietary changes that can help manage symptoms better?,How often should growth and nutritional status be monitored?,Should other family members be tested for this condition?,Are there any new treatments or clinical trials available for this condition?
Common questions about Combined pancreatic lipase-colipase deficiency
What is Combined pancreatic lipase-colipase deficiency?
Combined pancreatic lipase-colipase deficiency is an extremely rare inherited condition that affects the body's ability to digest dietary fats. The pancreas normally produces two important proteins — pancreatic lipase and colipase — that work together to break down fats from the food you eat. In this condition, both of these proteins are missing or do not work properly. Without them, fat passes through the digestive system without being absorbed, leading to a condition called fat malabsorption or steatorrhea. The main symptoms typically appear in infancy or early childhood and include greasy,
How is Combined pancreatic lipase-colipase deficiency inherited?
Combined pancreatic lipase-colipase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined pancreatic lipase-colipase deficiency typically begin?
Typical onset of Combined pancreatic lipase-colipase deficiency is infantile. Age of onset can vary across affected individuals.