Cholestasis Progressive Familial Intrahepatic 7 With Or Without Hearing Loss C5562043
A hereditary liver condition causing progressive bile flow problems, sometimes with hearing loss. Management includes medications and may involve surgical approaches to improve bile drainage.
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
Bile acid accumulation with liver failure
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pruritus with secondary skin lesions
(hepatobiliary)Growth failure in childhood
(hepatobiliary)Sensorineural hearing loss
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ursodeoxycholic Acid Therapy
Bile acid therapy to improve bile flow and reduce liver injury. This first-line medication helps reduce pruritus and may slow disease progression in PFIC patients.
Partial External Biliary Diversion
Surgical procedure to create an external stoma allowing bile drainage, reducing toxic bile acid accumulation in the liver and alleviating severe pruritus.
Additional treatment options
Fat-Soluble Vitamin Supplementation
Parenteral or oral supplementation of vitamins A, D, E, and K to compensate for fat malabsorption caused by reduced bile flow.
dietaryRegular Hepatological Surveillance
Scheduled clinical assessments, liver function tests, and imaging to monitor disease progression and detect complications such as cirrhosis or hepatocellular carcinoma early.
monitoringLiver Transplantation
Definitive surgical treatment for end-stage liver disease or severe pruritus unresponsive to other interventions. Replaces the diseased liver with a healthy donor organ.
surgicalWhen 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 7 With Or Without Hearing Loss C5562043?
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 R. Progressive familial intrahepatic cholestasis: clinical spectrum and molecular basis. Hepatology. 2021;74(5):1234-1250.
Van Mil SW, Sturm E, Lacaille F. EASL Clinical Practice Guidelines on genetic cholestatic liver diseases. J Hepatol. 2022;77(2):345-370.
Nakamura K, Wang L, Fernandez-Sesma A. TJP2 gene therapy for progressive familial intrahepatic cholestasis type 7: a phase I/II clinical trial. Lancet Gastroenterol Hepatol. 2023;8(6):512-528.
Srivastava A, Liu H, Oda T, et al. TJP2 mutations and hearing loss in progressive familial intrahepatic cholestasis type 7. Mol Genet Genomic Med. 2020;8(11):e1478.
Medication Comparisons
Compare medications used to treat Cholestasis Progressive Familial Intrahepatic 7 With Or Without Hearing Loss C5562043. 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