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102 LATE ONSET OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 SA Alqahtani, S Asfaha, M Swain BACKGROUND: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare disorder clinically similar to PFIC1 and 2, with onset of cholestatic liver disease early in life.
Liver Unit, University of Calgary, Calgary, Alberta
CASE: A 17-year-old female referred to hepatology clinic for evaluation of abnormal liver function test. Initially she was asymptomatic however she developed significant pruritus few months later after her initial clinical presentation. She denied any fatigue or jaundice. She had no risk factors for liver disease and she denied drinking alcohol. Her family history was significant for recurrent intrahepatic cholestasis (IHC) in her mother manifested as intermittent pruritus.
On examination, she appeared well and without stigmata of chronic liver disease. Her abdominal examination was within normal limit and without hepatosplenomegaly or ascites.
Laboratory investigations revealed normal CBC, electrolytes and creatinine. Her liver profile showed ALT 395 (7x ULN), GGT 690 (11x ULN), ALP 345 (2.7x ULN), total bilirubin 10 (n. <20), INR 0.9 and albumin 40. Serum bile acids were elevated at 121.2 (n. <8.2). Abdominal US was normal. Ophthalmic exam revealed no evidence of Keyser-Fleisher ring. Work-up for possible causes of liver diseases came back negative including metabolic liver disease work-up.
Due her clinical presentation and her mother history of IHC, she was diagnosed with PFIC3 after other causes of cholestasis were excluded. The patient was started on cholystyramine and her pruritus significantly improved.
DISCUSSION: PFIC type 3 is a rare disorder can be differentiated from PFIC 1 and 2 by presence of elevated GGT in patients with PFIC3. It's an autosomal recessive disorder. The gene causing PFIC3 is ABCDB4 which codes for MDR3. A link between PFIC3 and intrahepatic cholestasis of pregnancy has been established through mutation in MDR3. Clinically patient usually present with jaundice, pruritus in early childhood. Hepatosplenomegaly is not uncommon. Laboratory values usually reveal elevated GGT, ALT, ALP, bilirubin and bile acids. Family history may reveal a similar disease in sibling or intrahepatic cholestais of pregnancy in some mothers of PFIC3 patients. Treatments options include URSO and liver transplant.
CONCLUSION: PFIC type 3 is a rare disorder of childhood cholestasis which must be considered in adult who present with cholestatic liver disease of unknown etiology.