Overview
Low phospholipid-associated cholelithiasis, also known as LPAC syndrome, is a rare inherited liver and gallbladder condition. In healthy people, bile (a digestive fluid made by the liver) contains a balance of cholesterol, bile salts, and phospholipids — a type of fat that keeps cholesterol dissolved. In LPAC syndrome, the liver does not put enough phospholipids into bile. Without enough phospholipids, cholesterol clumps together and forms gallstones, not just in the gallbladder but also inside the bile ducts within the liver itself. This is what makes LPAC different from ordinary gallstones. The condition usually causes symptoms in young adults, often before age 40. People experience repeated episodes of right-sided belly pain, nausea, and sometimes fever or jaundice (yellowing of the skin and eyes). Many people have their gallbladder removed, only to find that symptoms return because stones keep forming inside the liver's bile ducts. Pregnancy can make symptoms worse. The good news is that LPAC syndrome responds well to a medication called ursodeoxycholic acid (UDCA), also known as ursodiol. This drug helps dissolve cholesterol and reduces stone formation. With the right diagnosis and treatment, most people can manage their symptoms effectively and avoid serious complications. Genetic testing for the ABCB4 gene can confirm the diagnosis.
Also known as:
Key symptoms:
Repeated episodes of right-sided or upper belly painNausea and vomitingGallstones forming at a young age (before 40)Gallstones inside the liver's bile ducts (intrahepatic stones)Symptoms returning after gallbladder removalJaundice (yellowing of skin and eyes)Fever during bile duct blockage episodesWorsening symptoms during pregnancyItching of the skin (cholestasis)Elevated liver enzymes on blood tests
Clinical phenotype terms (19)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventInstitut National de la Santé Et de la Recherche Médicale, France
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Low phospholipid-associated cholelithiasis.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Low phospholipid-associated cholelithiasis.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.Should I have genetic testing for the ABCB4 gene, and what does a positive result mean for my family?,Is ursodeoxycholic acid (UDCA) the right treatment for me, and what dose do I need?,Will I need to take medication for the rest of my life?,What symptoms should make me go to the emergency room immediately?,If I am planning a pregnancy, how will LPAC syndrome affect my care?,Should my parents, siblings, or children be tested for this condition?,How often do I need liver function tests and imaging to monitor my condition?
Common questions about Low phospholipid-associated cholelithiasis
What is Low phospholipid-associated cholelithiasis?
Low phospholipid-associated cholelithiasis, also known as LPAC syndrome, is a rare inherited liver and gallbladder condition. In healthy people, bile (a digestive fluid made by the liver) contains a balance of cholesterol, bile salts, and phospholipids — a type of fat that keeps cholesterol dissolved. In LPAC syndrome, the liver does not put enough phospholipids into bile. Without enough phospholipids, cholesterol clumps together and forms gallstones, not just in the gallbladder but also inside the bile ducts within the liver itself. This is what makes LPAC different from ordinary gallstones.
How is Low phospholipid-associated cholelithiasis inherited?
Low phospholipid-associated cholelithiasis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Low phospholipid-associated cholelithiasis typically begin?
Typical onset of Low phospholipid-associated cholelithiasis is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Low phospholipid-associated cholelithiasis?
Yes — 1 recruiting clinical trial is currently listed for Low phospholipid-associated cholelithiasis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Low phospholipid-associated cholelithiasis?
16 specialists and care centers treating Low phospholipid-associated cholelithiasis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.