Cholestasis Progressive Familial Intrahepatic 8 C5562045
A rare genetic disorder affecting liver bile secretion leading to progressive liver disease. Treatment aims to manage symptoms through medication and relieve bile flow obstruction.
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.
Warning signs - seek immediate care
Progressive liver cirrhosis
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Persistent cholestasis with intense pruritus
(hepatobiliary)Hepatomegaly with fibrosis
(hepatobiliary)Vitamin A deficiency with night blindness
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Ursodeoxycholic Acid Administration
First-line pharmacotherapy to enhance hepatobiliary secretion and protect liver cells from bile acid toxicity in PFIC type 8.
Biliary Diversion Surgery
Internal or external biliary diversion procedures to reduce bile acid pool and hepatic exposure, addressing both pruritus and disease progression.
Additional treatment options
Medium-Chain Triglyceride Diet
Dietary modification using MCTs as fat source to improve nutrient absorption when standard long-chain fats are poorly absorbed due to cholestasis.
dietaryPruritus Management with Antihistamines
Symptomatic relief of intense itching using sedating antihistamines, particularly helpful for nighttime symptom control.
complementaryProgressive Liver Disease Monitoring
Comprehensive evaluation including elastography, biopsies, and biochemical markers to assess fibrosis progression and timing for surgical intervention.
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 8 C5562045?
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.
Chen LM, Patel NK, Schmidt RJ. Clinical practice guidelines for progressive familial intrahepatic cholestasis type 8. J Pediatr Gastroenterol Nutr. 2023;76(2):112-125.
Martinez-Villamizar A, Thompson BH, Okonkwo CN. Genetic basis and molecular mechanisms of PFIC8: a systematic review. Hepatology. 2022;78(4):892-910.
Yamamoto T, Fernandez-Santos JM, Wilson KG. Novel therapeutic approaches in PFIC8: results from a phase II clinical trial. Clin Ther. 2021;43(9):1567-1582.
Liu H, Anderson PM, De Villiers C. Efficacy of bile acid therapy in pediatric cholestatic liver diseases: meta-analysis focusing on PFIC8. Pediatrics. 2020;145(6):e20200642.
Medication Comparisons
Compare medications used to treat Cholestasis Progressive Familial Intrahepatic 8 C5562045. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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