Overview
Pancreatic colipase deficiency is an extremely rare inherited condition that affects how your body digests dietary fats. Colipase is a small protein made by the pancreas that works together with an enzyme called pancreatic lipase. Lipase is the main enzyme responsible for breaking down fats from the food you eat, but it cannot work properly in the intestine without colipase. When colipase is missing or not functioning correctly, fats pass through the digestive system without being properly absorbed. This leads to a condition called fat malabsorption or steatorrhea, where large amounts of undigested fat appear in the stool. The main symptoms of this condition typically begin in early childhood and include greasy, foul-smelling, bulky stools (steatorrhea), poor weight gain, failure to thrive, and possible deficiencies in fat-soluble vitamins (A, D, E, and K). Children may experience bloating, abdominal discomfort, and diarrhea after eating fatty foods. Because fats are an important source of calories and essential fatty acids, prolonged malabsorption can lead to growth problems and nutritional deficiencies if not treated. The primary treatment for pancreatic colipase deficiency is pancreatic enzyme replacement therapy (PERT), which provides the missing digestive enzymes in capsule form taken with meals. Dietary modifications, including careful management of fat intake and supplementation with fat-soluble vitamins, are also important parts of the treatment plan. With appropriate treatment, most patients can achieve good nutritional status and lead relatively normal lives.
Key symptoms:
Greasy, foul-smelling stools (steatorrhea)Bulky or pale-colored stoolsDiarrhea, especially after fatty mealsPoor weight gain in childrenFailure to thriveBloating and gasAbdominal pain or discomfortVitamin A deficiency (night blindness, dry skin)Vitamin D deficiency (weak bones, rickets)Vitamin E deficiency (nerve problems)Vitamin K deficiency (easy bruising or bleeding)Essential fatty acid deficiencyGrowth delayFatigue and low energy
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Pancreatic colipase deficiency.
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Specialists
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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 Pancreatic colipase deficiency.
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Caregiver Resources
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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 dose of pancreatic enzyme replacement therapy is right for my child, and how should it be adjusted as they grow?,Which fat-soluble vitamins need to be supplemented, and how often should levels be checked?,Are there any dietary changes that can help improve fat absorption?,How will we monitor growth and nutritional status over time?,Should other family members be tested for this condition or carrier status?,What signs should I watch for that might indicate the treatment needs to be adjusted?,Are there any new treatments or clinical trials available for this condition?
Common questions about Pancreatic colipase deficiency
What is Pancreatic colipase deficiency?
Pancreatic colipase deficiency is an extremely rare inherited condition that affects how your body digests dietary fats. Colipase is a small protein made by the pancreas that works together with an enzyme called pancreatic lipase. Lipase is the main enzyme responsible for breaking down fats from the food you eat, but it cannot work properly in the intestine without colipase. When colipase is missing or not functioning correctly, fats pass through the digestive system without being properly absorbed. This leads to a condition called fat malabsorption or steatorrhea, where large amounts of undig
How is Pancreatic colipase deficiency inherited?
Pancreatic colipase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pancreatic colipase deficiency typically begin?
Typical onset of Pancreatic colipase deficiency is childhood. Age of onset can vary across affected individuals.