Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series

Background Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of genetic autosomal recessive diseases that cause severe cholestasis, which progresses to cirrhosis and liver failure, in infancy or early childhood. We herein report the clinical outcomes of surgical management in patients with four types of PFIC. Case presentation Six patients diagnosed with PFIC who underwent surgical treatment between 1998 and 2020 at our institution were retrospectively assessed. Living-donor liver transplantation (LDLT) was performed in 5 patients with PFIC. The median age at LDLT was 4.8 (range: 1.9–11.4) years. One patient each with familial intrahepatic cholestasis 1 (FIC1) deficiency and bile salt export pump (BSEP) deficiency died after LDLT, and the four remaining patients, one each with deficiency of FIC1, BSEP, multidrug resistance protein 3 (MDR3), and tight junction protein 2 (TJP2), survived. One FIC1 deficiency recipient underwent LDLT secondary to deterioration of liver function, following infectious enteritis. Although he underwent LDLT accompanied by total external biliary diversion, the patient died because of PFIC-related complications. The other patient with FIC1 deficiency had intractable pruritus and underwent partial internal biliary diversion (PIBD) at 9.8 years of age, pruritus largely resolved after PIBD. One BSEP deficiency recipient, who had severe graft damage, experienced recurrence of cholestasis due to the development of antibodies against BSEP after LDLT, and eventually died due to graft failure. The other patient with BSEP deficiency recovered well after LDLT and there was no evidence of posttransplant recurrence of cholestasis. In contrast, recipients with MDR3 or TJP2 deficiency showed good courses and outcomes after LDLT. Conclusions Although LDLT was considered an effective treatment for PFIC, the clinical courses and outcomes after LDLT were still inadequate in patients with FIC1 and BSEP deficiency. LDLT accompanied by total biliary diversion may not be as effective for patients with FIC1 deficiency.

Reversal of portal gastropathy with partial internal biliary diversion in a case of progressive familial intrahepatic cholestasis

Progressive intrahepatic cholestasis is a rare, genetic disorder causing bile acid secretion or transport defects. It can result in intrahepatic cholestasis that can progress to end-stage liver disease. Diagnosis is made using a combination of clinical and biochemical approaches. Genetic testing is currently the gold standard for investigation. We report a case of an 18-month-old male child with cholestatic pattern of jaundice from 16 months of life, which was associated with features suggestive of portal gastropathy. Detailed workup led to the diagnosis of progressive intrahepatic cholestasis (type 2). Early diagnosis prevented the need for liver transplant, and the child underwent surgical treatment with partial internal biliary diversion. Portal gastropathy and disease progression dramatically changed with corrective surgery. The patient was symptom-free at 10-week follow-up. Detecting this rare genetic disorder early has very good therapeutic implications from the patient's perspective and their morbidity and mortality profile; if untreated, it has a high propensity to progress to end-stage liver disease. The requirement of surgical interventions and liver transplantation is individualized on a case-to-case basis. An early diagnosis and initiation of treatment can prevent the need for a liver transplant as shown in the present case.

Coexistence of common gallstones and sinusoidal obstruction syndrome: Case report and review of the literature

Purpose: The sinusoidal obstruction syndrome (SOS) of the liver is an obliterative vasculitis that involves the terminal branches of the hepatic venules and sinusoids. When it is not treated, it will be a serious risk of mortality. Here, we aim to present our patient who has been associated with recurrent cholangitis attacks due to cholelithiasis and choledocholithiasis and is associated with sinusoidal obstruction syndrome with the literature. Description of the case: A 30 years old male patient had complaints of abdominal pain and nausea for a long time. The patient had a history of choledocholithiasis and cholangitis attacks. Although ERCP was performed and a stent was placed in the biliary tract, his jaundice did not disappear. Liver function tests were high. Tumor markers were negative. Methods: We could not make a definitive diagnosis with imaging methods and biopsy and we planned surgery. We performed segmental liver resection and biliary diversion in the surgery. Histopathological examination of the resected liver tissue was compatible with SOS. Conclusion: Many studies have been done on the etiology of SOS and different causes have been revealed. Accompanied with clinical findings, a definitive diagnosis is made with the exclusion of the presumptions considered. Surgery can be performed for both diagnostic and therapeutic purposes. If patients with elevated liver function tests and bilirubin have long-term abdominal pain, SOS should be bear in mind.

Hepaticogastrostomia guíada por ecoendoscopia en pacientes con estenosis biliares malignas proximales. Serie de casos

Endoscopic retrograde cholangiopancreatography is the method of choice for draining both benign and malignant biliary obstruction. Given the failure or impossibility of this procedure, the options for draining the biliary tree are limited to percutaneous drainage, surgical biliary diversion, or endoscopic ultrasound-guided bile duct drainage. Echo-endoscopic biliary drainage is an effective alternative to endoscopic retrograde cholangiopancreatography failure and in recent years, it has been taking an increasingly important place because it is less invasive and has a lower rate of complications. Our aim is to report a series of cases of patients with proximal malignant biliary strictures, treated by means of an endoscopic ultrasound-guided liver-gastrostomy, as palliative treatment.

Hepaticocystic Duct in an Era of Laparoscopic Cholecystectomy

The biliary tract is notorious for its variable anatomy. A persistent hepaticocystic duct with agenesis of common bile duct is a rare biliary anomaly that creates a diagnostic dilemma and can add to the operative difficulties. It is important to diagnose this anomaly preoperatively since the gallbladder forms an integral part of bilioenteric continuity and an inadvertent cholecystectomy can lead to a surgical catastrophe. If diagnosed, surgeons can plan definitive treatment in the form of biliary diversion. We present a case of a 22-year-old man, who presented to us with obstructive jaundice and cholangitis. The biliary system was decompressed initially with a percutaneous transhepatic biliary drainage and an endoscopic retrograde cholangiogram established the diagnosis of a type IV hepaticocystic duct preoperatively in our case. Since diagnosis was made prior to operative intervention, we were able to perform a cholecystojejunostomy to maintain biliary continuity. The patient was discharged with an uneventful postoperative course. To our knowledge, this is the first report of such a variation being diagnosed preoperatively. We are also presenting a brief review of literature about persistent hepaticocystic ducts and the embryological basis of their origin.