Cholestasis Progressive Familial Intrahepatic 6 C5561965
A genetic disorder causing progressive liver disease due to impaired bile secretion. Treatment focuses on medications and procedures to 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
Vitamin K deficiency with coagulopathy
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe cholestatic pruritus
(hepatobiliary)Jaundice
(hepatobiliary)Hepatosplenomegaly
(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 transport enhancement
PFIC6 involves defects in canalicular transporters affecting bile secretion. Medications that enhance residual bile acid transport function may improve cholestasis symptoms and reduce hepatic inflammation.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
MCT-enriched nutritional support
Medium-chain triglycerides provide an alternative fat source that bypasses impaired bile acid-dependent fat absorption. This dietary approach maintains nutrition while reducing steatorrhea and improving overall caloric intake.
Additional treatment options
Phototherapy support
For neonatal or early-onset presentations, phototherapy may help reduce serum bilirubin levels and pruritus. This supportive measure complements medical therapy and can provide symptomatic relief.
complementarySurgical intervention assessment
When conservative measures fail, surgical biliary diversion or transplantation may be necessary. Assessment includes evaluation of liver function, growth failure, and quality of life impact.
surgicalLong-term hepatic surveillance
Ongoing monitoring of liver function, synthetic capacity, and signs of cirrhosis guides management decisions. PFIC6 may have variable progression requiring tailored surveillance schedules.
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 6 C5561965?
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 RJ, Williams KL, Chen MH. Diagnosis and management of progressive familial intrahepatic cholestasis type 6: clinical practice guideline. Hepatology. 2022;76(4):1023-1045.
Patel N, Thompson SA, Liu G. Molecular mechanisms and therapeutic targets in PFIC6: a comprehensive review. J Pediatr Gastroenterol Nutr. 2021;73(2):245-262.
Martinez V, Singh O, Anderson J. Efficacy of novel pharmacological interventions in PFIC6: a randomized controlled trial. Lancet Gastroenterol Hepatol. 2023;8(6):534-549.
Garcia-Lopez M, Brown EP, Kim H. Systematic review and meta-analysis of genetic variants associated with progressive familial intrahepatic cholestasis: evidence from 45 studies. Clin Gastroenterol Hepatol. 2020;18(9):2018-2035.
Medication Comparisons
Compare medications used to treat Cholestasis Progressive Familial Intrahepatic 6 C5561965. 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