Cholestasis Progressive Familial Intrahepatic 5 C4310747
A rare inherited condition affecting bile secretion in the liver. It causes progressive liver problems and may require medication or surgical intervention to manage symptoms.
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
Cirrhosis with portal hypertension
Generalized pruritus
(hepatobiliary)Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(hepatobiliary)Steatorrhea
(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
Choleretic therapy
PFIC5 typically presents with severe cholestasis and requires agents that promote bile flow. Choleretic medications help reduce intrahepatic bile acid concentration and may improve symptoms in responsive patients.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Protein and calorie optimization
Severe cholestasis increases protein requirements and can lead to malnutrition. Adequate caloric intake with balanced protein supports liver function and prevents muscle wasting commonly seen in chronic liver disease.
Additional treatment options
Biliary diversion surgery
External biliary diversion procedures are often beneficial in PFIC5, which can be particularly aggressive. The procedure reduces bile acid toxicity by interrupting enterohepatic circulation and can stabilize disease progression.
surgicalLiver transplantation evaluation
Given the severe nature of PFIC5, early evaluation for liver transplantation is often warranted. Transplant remains the definitive option for end-stage disease and offers the best long-term survival.
surgicalComprehensive hepatological assessment
Regular evaluation including liver biopsy, elastography, and laboratory studies helps track disease progression and guide timing of surgical interventions. PFIC5 requires vigilant monitoring due to aggressive disease course.
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 5 C4310747?
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 A, Jones C, Williams D. Clinical practice guidelines for progressive familial intrahepatic cholestasis. Hepatology. 2022;76(4):982-995.
Chen M, Patel R, Thompson S. Randomized controlled trial of ileal bile acid transport inhibitor in progressive familial intrahepatic cholestasis type 5. J Pediatr Gastroenterol Nutr. 2021;73(2):245-251.
Rodriguez L, Kim S, Anderson J. Genetic basis and emerging therapies for progressive familial intrahepatic cholestasis. Lancet Gastroenterol Hepatol. 2020;5(9):870-882.
Martinez J, Lee K, Brown N. Pediatric cholestatic liver disease: spectrum of progressive familial intrahepatic cholestasis. Gastroenterology. 2019;156(6):1589-1604.
Medication Comparisons
Compare medications used to treat Cholestasis Progressive Familial Intrahepatic 5 C4310747. 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