gastrostomy-biliary diversion: innovative management for bile canalicular transport disorders

Conditions: Progressive Familial Intrahepatic Cholestasis

Summary: progressive familial intrahepatic cholestasis (pfic) is a group of disorders that can present early in life with cholestasis and intractable pruritus. their treatment poses a great challenge, with medical treatment is not successful in many cases. moreover, the available non-transplant surgeries carry many side effects and different degrees of efficacy. partial external biliary diversion, internal biliary diversion, and ileal exclusion still lack widespread experience with many side effects. nasobiliary stent placement has little tolerability, especially in younger age. gastrobiliary tube is a novel modality for external biliary diversion in such patients.

progressive familial intrahepatic cholestasis (pfic) is a group of disorders that can present early in life with cholestasis and intractable pruritus. they result primarily from defective transporters of different bile constituents on the canalicular membrane. the mildest form of these defective transporters can present by what is called benign recurrent intrahepatic cholestasis (bric). more recently both disease categories that represent the severest (pfic) and mildest (bric) forms of these transporters are better nomenclated as bile canalicular transport disorders, as some cases can start early as bric and later in life progress the pfic phenotype. moreover, a continuous spectrum of severity is present between what were previously known as pfic and bric. if the severest forms are not treated effectively they can have devastating outcomes reaching death. on the other hand, those known as bric can have severe attacks with unremitting pruritus that could be prolonged and sometimes persistent. their treatment poses a great challenge, with medical treatment is not successful in many cases. moreover, the available non-transplant surgeries carry many side effects and different degrees of efficacy. partial external biliary diversion is not always successful and has disfiguring effects and the stoma can have many side effects. internal biliary diversion and ileal exclusion still lack widespread experience and encouraging results due to sometimes lack of efficacy and others due to side effects. nasobiliary stent placement was tried in previous cases with a promising outcome, but with little tolerability, especially in younger age. in spite liver transplant is the last resort for failing cases, the availability of successful non transplant therapy would be the preferable one if it is with adequate efficacy and little side effects. the innovative intervention proposed in this study is expected to have a good efficacy due to total biliary diversion rather than the partial ones obtained by other surgeries. moreover, it avoids the disfiguring impact of the jeujenal stoma. more importantly, it can be removed at any time and be used at the times of severe flare of the disease.

Eligibility criteria:
inclusion criteria: * pfic cases that are previously responding to medical treatment with recent flare of the disease that doesn't respond to medical therapy * pfic cases that are not responding to medical treatment and refusing non-transplant surgery and not indicated for liver transplant * bric cases with frequent attacks not responding to medical therapy and refusing or unable to tolerate nasobiliary stent exclusion criteria: * severe portal hypertensive gastropathy * decompensated cirrhosis

Keywords: bile canalicular transport disorders