Progressiv familial intrahepatic cholestasis type 1 case presentation
Dr. Ajay Jhaveri Department of GastroenterologyJaslok Hospital & Research Centre
4yrs male child, 3rd born of non consanguineous marriage Presented in Oct 2010 : Itching since 3 months ? Jaundice since 3 months Intermittent diarrhoea since 3 monthsProgressive itching Accompanied with jaundice, yellowish discolouration of sclera and clay colored stoolsDiarrhoea – watery stools, 5-6 / day, lasting for a week
Milestones normal No h/o fever No h/o pain in the abdomen No h/o intake of alternative medications
Patient had 2 elder brothers who expired at the age of 5 years and 9 years. Both presented with• severe itching with a traumatic cataract in one of them,• stigmata of chronic liver disease disease in form of ascites, jaundice and expired due to end stage liver disease Mother also had an abortion and a neonate who expired within 12 hrs of birth before patient was born
Vitals – Normal. No dysmorphic facies No Pallor, icterus, cyanosis, clubbing, lymphadenopathy and edema feet Scratch marks ++ No stigmata of chronic liver disease Height and weight were below the 5th percentile ( 10.5 kgs, 89 cms ) Abdominal examination- firm hepatomegaly approximately 1.5 cms below the subcoastal margin Rest systemic exam – normal
Cholestatic liver disease in a 4 yr child with a positive family history
Progressive Familial Intrahepatic Cholestasis Bile duct paucity Primary Sclerosing Cholangitis Inborn errors of bile acid synthesis
Test Value Test ValueAlk Phos 587 (30-350) Hb 12 gm%AST 52(5-40) WBC 14600 Platelets 445KALT 50(5-40) Creatinine 0.5T. Bilirubin 1.5 ( 0.2-1.3) HBsAg NegativeD. Bilirubin 1.0 (0.1-0.8) HIV NegativeProtein 7.9 Anti HCV NegativeAlbumin 4.3 ANA NegativeAFP 15 ASMA NegativeINR 1 Anti LKM1 NegativeGGT 29
Patient had a Liver biopsy 3 years ago at another hospital and another one 6 months before coming to us ( February 2010 ).
Treatment offered – Operation done – CHOLECYSTO-JEJUNO CUTANEOUS STOMA Post op period: intermittent diarrhoea still persists Itching has been almost completely relieved Has gained 3 kg weight and 7 cms height but is still below the 5th percentile.
Expanded portal tract, normal bile ductsNormal hepatocytes Mild degenerationCourtesy Dr. Shaila Khubchandani, Jaslok Hospital
Microscopy: Mild degeneration of the hepatocytes Bile ducts normal Expanded portal area Inflammatory cells No Bile stasis
BSEP stain positive GGT stain absentCourtesy Dr. Alex Kinsley,Kings College, U.K. MRP 3 stain positive
Bile canaliculihepatocyte Bile plugs (Bylers bile) hepatocyte Courtesy Dr. S. Khubchandani, JHRC
4 year male child with cholestatic liver disease with raised alkaline phosphatase normal GGT with positive family history with positive BSEP and MDR3 staining is Progressive Familial Intrahepatic cholestasis type 1