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Progressive familial intrahepatic cholestasis

What is Progressive Familial Intrahepatic Cholestasis?

Progressive familial intrahepatic cholestasis (PFIC) is a cholestatic liver disease caused by gene mutations that impair bile excretion, ultimately leading to liver failure. It is a group of rare autosomal recessive genetic disorders. Based on the causative genes, it is classified into three types: PFIC-1, PFIC-2, and PFIC-3.

What Causes Progressive Familial Intrahepatic Cholestasis?

Various gene mutations lead to defects in the production, modification, or regulation of functional proteins in hepatocytes and bile duct epithelial cells, resulting in abnormal bile metabolism. This causes hepatocellular cholestasis and impairs fat digestion and absorption in the intestines.

Which Department Should Be Consulted for Progressive Familial Intrahepatic Cholestasis?

English Name: Progressive Familial Intrahepatic Cholestasis (PFIC). Alias: Progressive familial intrahepatic cholestasis. Departments: Neonatology, Pediatrics.

Who Are the Common Affected Populations of Progressive Familial Intrahepatic Cholestasis?

Newborns and infants. The incidence rate is approximately 1/100,000 to 1/50,000.

What Are the Main Symptoms and Manifestations of Progressive Familial Intrahepatic Cholestasis?

Jaundice and pruritus (itching) are the typical clinical manifestations. Other symptoms may include: - Short stature, delayed puberty, gallstones, and steatorrhea (fatty stools); - Manifestations related to fat-soluble vitamin deficiency: rickets, delayed bone age, dry eye syndrome, coagulation disorders, and neuromuscular abnormalities; - Visual and hearing impairments, irritability, drowsiness, and difficulty concentrating; - Advanced stages may present with portal hypertension, liver failure, or liver cancer. Each subtype has distinct features: - PFIC-1: Watery diarrhea, pancreatitis, and hearing loss. - PFIC-2: More rapid and severe progression, with liver failure or even liver cancer possible within the first year. - PFIC-3: Chronic progression, often leading to cirrhosis in late childhood or adolescence, with rare neonatal cholestasis.

How Is Progressive Familial Intrahepatic Cholestasis Diagnosed?

  1. Clinical manifestations: Progressive jaundice and pruritus in newborns or infants;
  2. Laboratory tests: Elevated serum conjugated bilirubin, alkaline phosphatase, and bile acids, with normal cholesterol levels;
  3. Pathological examination: Liver biopsy aids in diagnosis and subtype classification;
  4. Genetic testing: Detection of causative gene mutations.

How Is Progressive Familial Intrahepatic Cholestasis Treated?

  1. Dietary therapy: Medium-chain triglycerides (MCT) supplementation to improve nutritional status. Fat-soluble and water-soluble vitamins, adequate sunlight exposure, and calcium intake to support bone development;
  2. Medications: Aimed at promoting bile excretion, relieving pruritus, and enhancing fat emulsification and absorption in the intestines;
  3. Surgical treatment: Biliary diversion or liver transplantation, with the latter being the most effective and definitive treatment.

What Is the Prognosis of Progressive Familial Intrahepatic Cholestasis?

The prognosis depends on the subtype, severity of genetic defects, and whether early diagnosis and treatment are achieved. Severe cases may lead to death due to liver failure during childhood or adolescence.

How Can Progressive Familial Intrahepatic Cholestasis Be Prevented?