Overview
Rare pancreatic disease (Orphanet code 101937) is a broad category that refers to uncommon conditions affecting the pancreas, an organ located behind the stomach that plays a vital role in digestion and blood sugar control. The pancreas produces enzymes that help break down food and hormones like insulin that regulate blood sugar levels. When the pancreas is affected by a rare disease, it can lead to problems with digestion, nutrition, and blood sugar management. Symptoms of rare pancreatic diseases can vary widely depending on the specific condition but often include abdominal pain, difficulty digesting food, unexplained weight loss, fatty or oily stools, nausea, and sometimes diabetes. Some rare pancreatic diseases are present from birth, while others develop later in life. They may be caused by genetic mutations, autoimmune processes, structural abnormalities, or other uncommon mechanisms. Treatment depends on the specific type of rare pancreatic disease and may include pancreatic enzyme replacement therapy to help with digestion, insulin or other medications for blood sugar control, pain management, nutritional support, and in some cases surgery. Because these conditions are rare, patients often benefit from being seen at specialized centers with experience in pancreatic disorders. Early diagnosis and a coordinated care team can significantly improve quality of life and outcomes.
Key symptoms:
Abdominal pain, especially in the upper bellyDifficulty digesting foodFatty or greasy stoolsUnexplained weight lossNausea and vomitingBloating after mealsDiarrheaNew-onset diabetes or difficulty controlling blood sugarJaundice (yellowing of the skin or eyes)Poor growth in childrenFatigue and low energyLoss of appetiteNutritional deficiencies
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare pancreatic disease.
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Rare Disease Specialist
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 Rare pancreatic disease.
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 specific type of rare pancreatic disease do I or my child have, and what caused it?,Should we pursue genetic testing, and what would the results mean for our family?,What is the expected course of this disease, and how might it change over time?,What treatments are available, and what are the potential side effects?,How should we adjust our diet, and do we need to take enzyme supplements or vitamins?,Are there any clinical trials or new therapies being studied for this condition?,What warning signs should prompt us to seek emergency care?
Common questions about Rare pancreatic disease
What is Rare pancreatic disease?
Rare pancreatic disease (Orphanet code 101937) is a broad category that refers to uncommon conditions affecting the pancreas, an organ located behind the stomach that plays a vital role in digestion and blood sugar control. The pancreas produces enzymes that help break down food and hormones like insulin that regulate blood sugar levels. When the pancreas is affected by a rare disease, it can lead to problems with digestion, nutrition, and blood sugar management. Symptoms of rare pancreatic diseases can vary widely depending on the specific condition but often include abdominal pain, difficul
Which specialists treat Rare pancreatic disease?
9 specialists and care centers treating Rare pancreatic disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.