Overview
Parenteral nutrition-associated cholestasis (PNAC), also called parenteral nutrition-associated liver disease (PNALD) or intestinal failure-associated liver disease (IFALD), is a serious liver condition that develops in people who receive nutrition through an intravenous (IV) line — called parenteral nutrition or total parenteral nutrition (TPN) — instead of eating normally. When the gut cannot absorb food properly, nutrients must be delivered directly into the bloodstream. Over time, this can cause bile to build up in the liver, leading to liver damage and scarring. The condition most commonly affects premature babies and newborns who have serious intestinal problems, such as short bowel syndrome, but it can also occur in older children and adults who depend on long-term IV nutrition. The liver becomes inflamed and, if untreated, can progress to cirrhosis or liver failure. Key symptoms include yellowing of the skin and eyes (jaundice), a swollen belly, pale or clay-colored stools, dark urine, and poor weight gain in infants. Treatment focuses on reducing or stopping parenteral nutrition as soon as possible, transitioning to feeding through the gut, and managing complications. In severe cases, a liver or combined liver-intestine transplant may be needed. Newer IV fat formulas, such as fish oil-based lipid emulsions, have shown promise in preventing and treating this condition.
Also known as:
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice)Swollen or enlarged bellyPale, white, or clay-colored stoolsDark yellow or brown urinePoor weight gain or growth failure in infantsItchy skinFatigue and low energyEnlarged liver or spleenEasy bruising or bleedingFluid buildup in the belly (ascites)Irritability in infantsElevated liver enzymes on blood tests
Clinical phenotype terms (22)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsFresenius Kabi
Fresenius Kabi — PHASE4
Omegaven: FDA approved
Omegaven is indicated as a source of calories and fatty acids in pediatric patients with parenteral nutrition-associated cholestasis (PNAC)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableOmegaven
Omegaven is indicated as a source of calories and fatty acids in pediatric patients with parenteral nutrition-associated cholestasis (PNAC)
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 Parenteral nutrition-associated cholestasis.
Community
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Start the conversation →Latest news about Parenteral nutrition-associated cholestasis
Disease timeline:
New recruiting trial: Safety Study to Evaluate the Occurrence of EFAD in Pediatric Patients With PNAC Who Require More Than Eight Weeks of Omegaven Treatment
A new clinical trial is recruiting patients for Parenteral nutrition-associated cholestasis
New recruiting trial: Safety Study of SMOFlipid to Evaluate the Risk of Developing EFAD and/or PNAC in Pediatric and Adult Patients
A new clinical trial is recruiting patients for Parenteral nutrition-associated cholestasis
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.How severe is the liver damage right now, and is it reversible?,Is my child (or am I) a candidate for switching to a fish oil-based IV fat formula?,What is the plan to transition to gut feeding, and how quickly can we try?,Should we consider a referral to an intestinal rehabilitation program?,At what point would a liver or intestine transplant be considered?,What blood tests should we monitor, and how often?,Are there any clinical trials or newer treatments we should know about?
Common questions about Parenteral nutrition-associated cholestasis
What is Parenteral nutrition-associated cholestasis?
Parenteral nutrition-associated cholestasis (PNAC), also called parenteral nutrition-associated liver disease (PNALD) or intestinal failure-associated liver disease (IFALD), is a serious liver condition that develops in people who receive nutrition through an intravenous (IV) line — called parenteral nutrition or total parenteral nutrition (TPN) — instead of eating normally. When the gut cannot absorb food properly, nutrients must be delivered directly into the bloodstream. Over time, this can cause bile to build up in the liver, leading to liver damage and scarring. The condition most common
How is Parenteral nutrition-associated cholestasis inherited?
Parenteral nutrition-associated cholestasis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Parenteral nutrition-associated cholestasis?
Yes — 2 recruiting clinical trials are currently listed for Parenteral nutrition-associated cholestasis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Parenteral nutrition-associated cholestasis?
24 specialists and care centers treating Parenteral nutrition-associated cholestasis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Parenteral nutrition-associated cholestasis?
1 patient support program are currently tracked on UniteRare for Parenteral nutrition-associated cholestasis. See the treatments and support programs sections for copay assistance, eligibility, and contact details.