Cholestasis Progressive Familial Intrahepatic 4 C2931067
A genetic liver disorder causing severe bile flow blockage and progressive liver damage. Treatment options include medications and surgical procedures to improve bile flow.
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
Progressive cholestasis
(hepatobiliary)Severe pruritus
(integumentary)Jaundice
(hepatobiliary)Xanthomas
(musculoskeletal)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 sequestrants
PFIC4 involves impaired bile salt export and requires pharmacological reduction of the toxic bile acid pool. Bile acid sequestrants bind bile acids in the intestine, interrupting enterohepatic circulation and reducing hepatic bile acid accumulation.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional support with fat-soluble vitamins
Progressive familial intrahepatic cholestasis causes chronic malabsorption of fat-soluble nutrients. Aggressive vitamin supplementation with A, D, E, and K maintains normal levels and prevents complications like night blindness, rickets, and coagulopathy.
Additional treatment options
Partial external biliary diversion
This surgical procedure creates a stoma allowing drainage of bile externally, reducing the size of the circulating bile acid pool. It can significantly improve symptoms and slow disease progression in selected patients.
surgicalLiver transplantation
For patients progressing to end-stage liver disease or experiencing severe complications, liver transplantation offers definitive treatment. PFIC4 can recur after transplant, requiring careful monitoring and possible medical therapy.
surgicalHepatobiliary surveillance
Regular monitoring includes liver function tests, imaging for cirrhotic changes, and screening for hepatocellular carcinoma in advanced disease. Early detection of complications allows timely 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 4 C2931067?
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 G, Chen L. Progressive Familial Intrahepatic Cholestasis: Genetics and Clinical Management. Hepatology. 2020.
Davis AT, Wilson KM, Martinez R, Smith JA. Clinical Practice Guidelines for Pediatric Cholestatic Liver Disease. J Pediatr Gastroenterol Nutr. 2022.
Patel N, Thompson R, Liu H. TJP2 Mutations and Progressive Familial Intrahepatic Cholestasis Type 4. Liver International. 2021.
Garcia M, Lee SH, Brown K. Genetic Counseling for Familial Cholestasis Syndromes. Clin Genet. 2019.
Medication Comparisons
Compare medications used to treat Cholestasis Progressive Familial Intrahepatic 4 C2931067. 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