What is PFIC 4?
Progressive Familial Intrahepatic Cholestasis Type 4 (PFIC 4) is a rare genetic liver disorder that affects bile flow in the liver. It belongs to a group of conditions where the liver cannot properly excrete bile, leading to its buildup and causing severe liver damage over time.
How Does PFIC 4 Affect the Body?
- Bile Accumulation: Bile, a digestive fluid, is essential for breaking down fats. In PFIC 4, the inability to excrete bile results in its toxic buildup, damaging liver cells.
- Symptoms:
- Persistent itching (pruritus), often severe.
- Jaundice (yellowing of the skin and eyes).
- Fatigue and poor weight gain.
- In advanced stages, liver failure may occur.
- Causes: PFIC 4 is caused by mutations in specific genes, often inherited in an autosomal recessive manner, meaning both parents must carry the defective gene.
Diagnosis and Treatment
- Diagnosis: Blood tests, genetic testing, and liver biopsies help confirm the condition.
- Treatment:
- Medications: To manage symptoms like itching.
- Surgical Options: Biliary diversion surgery to aid bile flow.
- Liver Transplant: For severe cases, a transplant may be necessary.
Living with PFIC 4
Though challenging, individuals with PFIC 4 can lead fulfilling lives with proper management. Advocacy and awareness efforts, like those by RareGen, aim to improve treatment accessibility and quality of life for patients.