Francesco (not his real name) is a young patient from Tuscany, affected with progressive familial intrahepatic cholestasis (PFIC) type 1 since birth. For almost four years his intestines were so sick that he could eat only potatoes and milk. He underwent an extremely innovative procedure combining liver transplantation and total internal bile diversion. This was done recently at ISMETT (Istituto Mediterraneo per i Trapianti e Terapie ad alta specializzazione), in Palermo.   This is the first time this technique has been used in Italy, and only the second time in the world. The same procedure had been previously performed in Japan by a surgical team that included Professor Jean de Ville de Goyet, who became Chief of ISMETT’s Department for the Treatment and Study of Pediatric Abdominal Diseases and Abdominal Transplantation a few months ago.

Francesco suffers from an extremely rare pathology affecting one in 100,000 children: a congenital defect in the formation of bile. In patients with this pathology, the bile production by the liver cells is altered because of a genetic defect that results in some components being retained in the cells. The abnormal retention of biliary components in the liver causes structural damage and, with time, also functional impairment. In this particular type of PFIC, the intestine is also affected by the condition. Because of the disease the child underwent a liver transplant at two years of age. The procedure was very long and seemed successful, but shortly after transplantation the disease reappeared, and even more aggressively.  Often, in fact, isolated transplantation is not the decisive solution for children affected with PFIC type 1, and other cases with chronic and extremely severe dysentery have been reported.

At that point, Francesco could eat almost nothing. Anything he ingested resulted in heavy dysentery. So, for over two years, Francesco could only eat potatoes and spent his spare time with his tablet, looking for recipes to make this single food in various ways, and a little tastier.  Francesco knows at least 100 different ways to cook potatoes: pasta and potatoes, baked potatoes, curry potatoes, potatoes with rosemary, or onion, or tomatoes. “In the last few months his conditions had been getting worse”, says Francesco’s mother.  “He could eat very little. His abdomen was increasingly swollen and there was no sign of improvement.” His body could not grow in those years, and at the age of four and a half (when the decision for the new operation was made) he still weighed only 10 kg. But improvements did become visible soon after the surgery. “As soon as he woke up,” his mother continued, “Francesco asked for a piece of lasagna for his next lunch.”  Which he actually ate a few days after the surgery. “I couldn’t believe it. Seeing him eating something different than potatoes was deeply touching. I would like to thank ISMETT and Dr. de Ville de Goyet for all they did for us. He allowed our son, as well as me and my husband, to return to life.”

Francesco underwent a new liver transplant on March 7. This time the procedure was combined with another surgery. It was performed directly to connect the bile duct to the intestine: it was then chosen to merge it directly with the colon.  “Normally, children suffering from this type of disease can benefit from an external bile diversion, through a stoma in the abdomen,” explained Dr. de Ville de Goyet, chief of the team that performed the surgical procedure. “In other words, an opening is created to connect the bowel with an external ‘bag’ to allow discharge. In the last few years the diversion of the bile into the colon has been proposed, but this type of procedure is performed on non-transplanted children. In Francesco’s case, given his young age, we chose to do two critical procedures simultaneously: operate on the bile duct during transplantation in order to allow the bile to discharge directly into the colon, thus avoiding a permanent stoma on his abdomen. This combined procedure will allow Francesco to be free of chronic dysentery, and return to a normal life, without the need for an external drainage. I am sure that this procedure will improve his quality of life.”

The child was discharged from ISMETT less than one month after the double surgery. He came back to visit the pediatric nursing team just after Easter to celebrate his recent 5th birthday with the team, and eat a cake in the shape of a potato.  He will stay in Palermo another few weeks for periodic follow ups, and then return to his family and friends waiting for him in Tuscany.