Myo5b Related Progressive Familial Intrahepatic Cholestasis C5680100
A genetic liver disorder that impairs bile flow, causing liver damage, itching, and poor growth. It often begins in infancy and may lead to liver transplantation. Medications can help manage symptoms and 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.
Cholestasis
(hepatobiliary)Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive jaundice
(hepatobiliary)Hepatomegaly
(hepatobiliary)Severe pruritus
(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 with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ursodeoxycholic Acid
This bile acid replacement therapy improves bile flow and may reduce liver injury in PFIC. It helps solubilize bile acids and protects liver cells from toxic bile salt accumulation.
Fat-Soluble Vitamin Supplementation
Because bile acid insufficiency impairs fat-soluble vitamin absorption, supplementation with vitamins A, D, E, and K is essential to prevent deficiency complications including night blindness, rickets, coagulopathy, and neurological problems.
Additional treatment options
Regular Hepatobiliary and Growth Monitoring
Serial assessment of liver function, bilirubin levels, and fat-soluble vitamin status guides treatment adjustments. Growth percentiles and nutritional status should be tracked regularly in pediatric patients.
monitoringMedium-Chain Triglyceride Supplementation
MCTs are absorbed directly into the portal circulation without requiring bile acids, providing an alternative fat source that improves nutritional status and reduces steatorrhea in cholestatic patients.
dietaryLiver Transplantation
For patients with end-stage liver disease, severe pruritus unresponsive to medical therapy, or hepatocellular carcinoma, liver transplantation offers definitive treatment and excellent long-term survival in appropriately selected patients.
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 Myo5b Related Progressive Familial Intrahepatic Cholestasis C5680100?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Myo5b Related Progressive Familial Intrahepatic Cholestasis C5680100. 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 27, 2026. · Read our editorial policy