Progressive Familial Intrahepatic Cholestasis (PFIC)
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Overview
Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare, inherited liver disorder that affects bile flow within the liver. Bile is a digestive fluid essential for breaking down fats and eliminating waste products. In PFIC, a genetic defect impairs the transport of bile, leading to its buildup inside liver cells. This accumulation causes liver damage, inflammation, and progressive liver disease that can lead to liver failure.
PFIC usually presents in infancy or early childhood and progressively worsens over time.
What Are the Symptoms of PFIC?
Children with PFIC often experience:
- Severe itching (pruritus), which can be distressing and interfere with sleep
- Jaundice (yellowing of the skin and eyes)
- Fatigue and irritability
- Poor growth and delayed development
- Dark urine and pale stools
- Enlarged liver and spleen
- Vitamin deficiencies due to poor fat absorption
The most common cause, as it significantly reduces the liver’s ability to function.
Sudden loss of liver function due to factors like viral hepatitis, drug overdose, or toxins.
High blood pressure in the liver can lead to the diversion of blood around the liver, allowing toxins to bypass detoxification.
Bleeding in the intestines can increase the amount of toxins that the liver must process.
Infections, especially bacterial infections in people with liver disease, can trigger or worsen HE.
Imbalances in sodium, potassium, and other electrolytes may also contribute to HE development.
What Causes PFIC?
PFIC is caused by mutations in genes responsible for proteins that transport bile acids and other components of bile within liver cells. These genetic mutations lead to impaired bile flow and accumulation within the liver, causing progressive liver damage. PFIC is inherited in an autosomal recessive pattern, meaning a child must inherit the defective gene from both parents to develop the condition.
How is PFIC Diagnosed?
Diagnosis involves:
- Blood tests to assess liver function and bile acid levels
- Imaging studies such as ultrasound or MRI to evaluate the liver and bile ducts
- Liver biopsy to examine liver tissue for characteristic changes
- Genetic testing to identify specific mutations causing PFIC
Early diagnosis is crucial for managing the disease effectively.
How is PFIC Treated?
Treatment focuses on relieving symptoms and slowing liver damage:
- Medications to reduce itching and improve bile flow
- Nutritional support including vitamin supplements (especially fat-soluble vitamins A, D, E, and K)
- Surgical options, such as partial external biliary diversion, to reduce bile accumulation
- Ultimately, liver transplantation may be necessary if liver failure develops or symptoms become severe
Who is at Risk for PFIC?
Children born to parents who carry the genetic mutations for PFIC are at risk. Since PFIC is inherited, siblings of affected children may also be at risk.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect families affected by PFIC to specialized pediatric hepatologists and transplant centers. We provide guidance from diagnosis through advanced treatment and transplantation, ensuring your child receives expert, compassionate care.
Why Choose Liver Transplantation Portal?
Our platform is dedicated to supporting families managing rare liver disorders like PFIC. With access to top specialists and comprehensive resources, Liver Transplantation Portal helps you navigate complex treatment pathways and access life-saving liver transplantation when necessary.
Contact us today to learn more about Progressive Familial Intrahepatic Cholestasis and how we can assist your family.