Overview
Primary intrahepatic lithiasis (PIL) is a condition where stones form inside the bile ducts within the liver itself — not just in the gallbladder. It is also known as hepatolithiasis or intrahepatic bile duct stones. Unlike the more common gallstones that sit in the gallbladder, these stones develop in the small and large bile ducts that run through the liver tissue. Over time, the stones can block bile flow, cause repeated infections, and damage the liver. The condition tends to cause recurring episodes of pain in the upper right side of the abdomen, fever, chills, and yellowing of the skin or eyes (jaundice). Some people also experience nausea, fatigue, and weight loss. Because the stones keep coming back and can be hard to remove completely, many patients deal with long-term liver inflammation and scarring. In serious cases, the ongoing damage can lead to liver failure or increase the risk of a rare bile duct cancer called cholangiocarcinoma. Treatment focuses on removing or breaking up the stones, clearing blocked ducts, and preventing infections. Options include endoscopic procedures, surgery, and in some cases liver transplantation. There is no single cure, and the disease often requires ongoing management by a specialist team. Early diagnosis and regular follow-up are very important to protect liver function over time.
Also known as:
Key symptoms:
Pain in the upper right side of the abdomenFever and chillsYellowing of the skin or whites of the eyes (jaundice)Nausea and vomitingFatigue and low energyDark-colored urinePale or clay-colored stoolsItchy skinUnintended weight lossRepeated bile duct infections (cholangitis)Swelling or tenderness in the abdomen
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Primary intrahepatic lithiasis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Primary intrahepatic lithiasis at this time.
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Specialists
View all specialists →No specialists are currently listed for Primary intrahepatic lithiasis.
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 Primary intrahepatic lithiasis.
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.Where exactly are my stones located, and how many are there?,What treatment do you recommend first — endoscopy, surgery, or something else?,How likely are the stones to come back after treatment, and what can I do to reduce that risk?,Do I need regular scans to check for bile duct cancer, and how often?,Are there any dietary changes or medications that could help prevent new stones from forming?,What signs should make me go to the emergency room right away?,At what point would a liver transplant be considered for my situation?
Common questions about Primary intrahepatic lithiasis
What is Primary intrahepatic lithiasis?
Primary intrahepatic lithiasis (PIL) is a condition where stones form inside the bile ducts within the liver itself — not just in the gallbladder. It is also known as hepatolithiasis or intrahepatic bile duct stones. Unlike the more common gallstones that sit in the gallbladder, these stones develop in the small and large bile ducts that run through the liver tissue. Over time, the stones can block bile flow, cause repeated infections, and damage the liver. The condition tends to cause recurring episodes of pain in the upper right side of the abdomen, fever, chills, and yellowing of the skin
How is Primary intrahepatic lithiasis inherited?
Primary intrahepatic lithiasis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary intrahepatic lithiasis typically begin?
Typical onset of Primary intrahepatic lithiasis is adult. Age of onset can vary across affected individuals.