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Detailed information of BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS
DEFINITION:
A disorder of hepatic bile formation resulting in recurrent
episodes of jaundice and pruritis lasting for days to months.
EPIDEMIOLOGY:
- incidence: extremely rare (about 40 cases reported)
- age of onset:
- 8 months -> 60 years of age (majority before age 20)
- risk factors:
- familial - autosomal recessive
- M > F
PATHOGENESIS:
- a disorder causing direct hyperbilirubinemia and jaundice
due to persistent intrahepatic cholestasis
2. Genetic Defect
- genetic defect -> defect in hepatic bile formation ->
inconsistent excretion of bile salts and conjugated bilirubin
from hepatocytes or at the canalicular level -> cholestasis
CLINICAL FEATURES:
- last from 2 days to 24 months with asymptomatic intervals
varying from one month to 20 years
- episodes are associated with:
- anorexia
- fatigue
- hepatomegaly +/- splenomegaly
- jaundice
- nausea/vomiting
- pruritis
- steatorrhea
2. Complications
- malabsorption of fats and fat-soluble vitamins (D,E,A,K)
INVESTIGATIONS:
- conjugated hyperbilirubinemia
- elevated alkaline phosphatase and bile salts
- vitamin D,E,A,K deficiencies
2. For Malabsorption
- elevated 72 hour fecal fat content
3. Biopsy
- accumulation of bile pigments in the hepatocytes and bile
canaliculi
- mild fibrosis in the peripheral or centrilobular zones
- focal areas of hepatocellular necrosis (at times)
- normal histology between attacks
MANAGEMENT:
- cholestyramine to bind bile salts and reduce pruritis
- supplementation of fat-soluble vitamins (D,E,A,K)
- promote bile flow with phenobarbital or rifampin
2. Prognosis
- chronic recurrent illness but no progression to
hepatocellular failure or cirrhosis
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Pediatric Database - BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS
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