P57

Clinical chemical monitoring of PFIC-patients treated with a new surgical method

Karin Littmann1,*, Cecilia Gälman2, Paolo Parini2, Björn Fishler3, Antal Nemeth3, Eva Beijer3, Maria Magnusson3, Ronald Oude-Elferink4, Gösta Eggertsen2

1Karolinska University Laboratory, Stockholm, Sweden, 2Clinical Chemistry, Karolinska University Laboratory, 3Pediatric gastroenterology, Hepatology and nutrition, Astrid Lindgren pediatric hospital, Stockholm, Sweden, 4Tygat Institute for Liver and Intestinal Research, Amsterdam, Netherlands

Introduction: Progressive familial intrahepatic cholestasis (PFIC) is a rare disease caused by mutations in the genes coding for bile acid transporting proteins. Symptoms are cholestasis with liver damage, pruritus and icterus. Surgical diversion of the bile flow to an external abdominal stomia in early childhood generally improves the clinical condition. For young adults it can be traumatic with a stomia. Therefore a new surgical method (2ndop), diverting most of the bile directly into the colon was performed later in life in the patients observed in this study.

Previous studies have found elevated serum levels of autotoxin, an enzyme that converts lysophosphatidylcholine into lysophosphatidic acid, in cases with cholestatic pruritus.

Objectives: Evaluate how clinical chemical investigations can reflect the clinical state ofcholestasis and pruritus and predict outcome of the 2nd op in PFIC patients.  

Methods: Liver markers, serum bile acids (BA), autotaxin and 7α-hydroxy-4-cholesten-3-one (C4) were monitored in 4 PFIC patients, 1 year before and after the 2nd op was performed.  

Results:

Patient

Gender

Born

Age at 2nd op.

KF

Female

1991

20

JW

Female

1992

21

EM

Female

1989

22

LW

Male

1999

12


Before 2nd op all patients were doing well. In JW and EM the 2nd op was sucessful. Only slight aberrations in their liver markers an BA were recorded. KF showed signs of cholestasis after 2nd op with rising levels of BA and subnormal C4 values, but ordinary levels of liver markers including serum bilirubin. After 2nd op LW had several episodes of cholestasis with severe pruritus, elevated levels of liver markers, autotoxin and BA and reduced C4. He experienced a liver tansplantation 21 month after the 2nd op and afterwards his condition improved. The autotaxin levels correlated well with BA and pruritus in LW and KF.

Conclusion: The utilized laboratory panel reflected the state of cholestasis but could not predict the final outcome of the 2nd op in these patients.


Keywords
: Liver