Abstract
Introduction:
Progressive familial intrahepatic cholestasis (PFIC) is a rare group of autosomal recessive liver disorders caused by genetic mutations affecting bile acid transport proteins in hepatocytes. Clinical features include jaundice, failure to thrive and fat-soluble vitamin deficiencies. However, pruritus is the most debilitating symptom. Treatment of pruritus constitutes a step-up approach of medical therapy (ursodeoxycholic acid, rifampin, cholestyramine, and newer agents like ileal bile acid transporter inhibitors) followed by biliary diversion surgeries in refractory cases, with the goal of reducing enterohepatic circulation. 1 Here, we present a case of a 4-year-old boy diagnosed with PFIC and managed with complete laparoscopic partial internal biliary diversion by a cholecystojejunocolic anastomosis.
Method:
A 4-year-old boy with a clinical diagnosis of PFIC, presenting with pruritus since 5 months of age, failure to thrive, and oily stools. Physical examination revealed icterus, scratch marks, and hepatomegaly. Laboratory investigations showed a normal serum bilirubin, elevated alkaline phosphatase (ALP 829 U/L), and low gamma-glutamyl transferase (GGT 19 U/L), suggestive of PFIC type 1 or 2. Genetic analysis confirmed a heterozygous mutation in the ATP8B1 gene, consistent with PFIC type 1. After an inadequate response to medical therapy, the patient was scheduled for laparoscopic partial internal biliary diversion. Video highlights a surgical technique of four-port laparoscopic cholecystojejunocolic type of internal biliary diversion. 2 This procedure effectively reduces bile acid reabsorption by bypassing the ileum, thereby lowering serum bile acid levels without the morbidity associated with external stomas. 3 There are case reports of a similar procedure performed either by open or laparoscopic-assisted methods. Gunaydin et al. published two cases by open technique, whereas Castrillo A performed a Laparoscopic-assisted procedure in 3 cases, with only cholecystojejunostomy anastomosis performed intracorporeally; the other two anastomoses were performed extracorporeally through an extended umbilical incision.4,5 This is the first report of a complete laparoscopic cholecystojejunocolic procedure where all three anastomoses were performed intracorporeally.
Result:
The postoperative course was uneventful. The patient resumed oral intake by the third postoperative day and was discharged on the fifth postoperative day. On 1-year follow-up, the child had significant symptomatic improvement with resolution of pruritus, ALP of 294 U/L and a minimal surgical scar. There are no postoperative complications, such as cholangitis or choleretic diarrhea. Postoperative monitoring is essential for choleretic diarrhea, as its reported incidence is as high as 15.4%. Mostly, it is auto-limited; some have reported use of cholestyramine for its control. 6
Conclusion:
Laparoscopic partial internal biliary diversion via cholecystojejunocolic anastomosis is an effective surgical option for managing intractable pruritus in PFIC patients. It offers the advantage of avoiding external stomas, reduced risks of dehydration and electrolyte imbalance, while ensuring better cosmetic outcomes and a faster postoperative recovery. However, choleretic diarrhea is a real concern and needs to be monitored. This approach can significantly improve the quality of life in affected children and may delay the progression to liver transplantation.1–5
Patient consent:
Authors have received and archived patient consent for video recording/publication in advance of video recording of the procedure.
Authors’ Contributions:
M.A.M.: Full access to all of the data in the study, and responsibility for the integrity of the data and the accuracy of the data analysis. K.U.: Drafting of the article. M.A.M.: Critical revision of the article for important intellectual content and supervision.
Source of work or study:
Original work of authors.
Author Disclosure Statement:
No competing financial interests exist.
Runtime of video:
7 mins 50 secs.
Keywords