Cholestasis Progressive Familial Intrahepatic 9 C5676973
A genetic liver disorder causing bile to build up in liver cells, leading to progressive liver damage. It typically appears in infancy or childhood and may eventually require liver transplantation.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intractable pruritus
(hepatobiliary)Pale stools and dark urine
(hepatobiliary)Fat-soluble vitamin deficiency
(hepatobiliary)Progressive familial intrahepatic cholestasis with peripheral neuropathy
(hepatobiliary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Bile Acid Sequestrant Therapy
Binding agents that interrupt enterohepatic circulation of bile acids, reducing hepatic bile acid load and associated liver damage in PFIC-9.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ileal Exclusion Procedure
Surgical bypass of the terminal ileum to interrupt bile acid reabsorption, decreasing the bile acid pool and hepatic injury.
Additional treatment options
Protein-Energy Supplementation
Enhanced nutritional support to prevent protein-energy malnutrition common in chronic cholestasis, supporting growth and immune function.
dietaryPlasmapheresis for Refractory Pruritus
Blood filtration procedure to remove pruritogenic substances in patients with severe itching unresponsive to conventional therapies.
procedureLiver Transplant Evaluation Timing
Regular assessment of disease progression to determine optimal timing for transplant listing before development of irreversible complications.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Cholestasis Progressive Familial Intrahepatic 9 C5676973?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Baker LM, Chen XR. Progressive familial intrahepatic cholestasis: advances in genetic understanding and therapeutic approaches. Hepatology. 2022.
International Liver Transplant Society. Management guidelines for pediatric cholestatic liver disease. J Pediatr Gastroenterol Nutr. 2021.
Fernandez-SGA, Williams PD, Li H. Novel therapeutic interventions in PFIC subtypes: a randomized controlled trial. Lancet Gastroenterol Hepatol. 2023.
Nakamura K, Westhoff CM. Molecular mechanisms of bile acid transport defects in intrahepatic cholestasis. Clin Liver Dis. 2020.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy