Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria
The patient, a 31-year old male with photosensitivity since childhood, had a family history on his mother's side of photosensitivity of unknown cause. Two years earlier, he had been diagnosed with porphyria and liver cirrhosis by skin and liver biopsy. Fatigue and abdominal distention continued for 10 months despite medical treatment. Due to a lack of improvement of liver cirrhosis-related symptoms, he was enrolled on the waiting list for deceased-donor LT. While on the waiting list, however, he experienced two episodes of hepatic encephalopathy. A genetic study, using polymerase chain reaction followed by sequencing, confirmed the diagnosis of EPP and the presence of a FECH gene mutation (18q21.3). His symptoms and laboratory profiles aggravated rapidly: total bilirubin 25.4 mg/dL, albumin 2.2 g/dL, creatinine 2.5 mg/dL, and prothrombin time 2.71 INR. He finally fell into acute-on-chronic liver failure with hepatorenal syndrome, with a model for end-stage liver disease (MELD) score of 39. We then searched for a living donor for LT, but his younger brother had the same genetic mutation, making the latter ineligible for donation. The patient was given priority allocation for deceased donor organs. His condition worsened as he became semicomatose and his total bilirubin concentration increased to 45.6 mg/dL. Continuous renal replacement therapy was promptly started. After a wait of 3 days, he underwent urgent deceased-donor LT.\nJust after laparotomy, his entire viscera were protected from light in the operating room; this was because exposure to intense light is a risk factor for bowel perforation in patients with EPP. We therefore used low-powered light emitting diode (LED) light sources and a wavelength-adjusted filter film. The patient underwent classical standard transplantation using active venovenous bypass. A rubber T-tube was inserted to the biliary anastomosis.\nThe patient's native liver weighed 1427 g; the parenchyma was colored dark and brownish green and had multiple cirrhotic nodes (). Microscopically, we observed regenerating submassive hepatic necrosis with accumulation of dark-brown pigments and severe cholestasis (). Polarizing microscopy showed that these pigments had yellow and red birefringence in a Maltese cross pattern (). All of these findings supported the diagnosis of EPP.,,,\nPosttransplant recovery was slow but the patient improved progressively. He recovered consciousness, but tracheostomy was performed on posttransplant day 18 due to weak respiratory muscle power. After weaning from the ventilator, the tracheostomy cannula was removed on day 42. He was kept on continuous renal replacement therapy and conventional hemodialysis for 2 months until his renal function recovered. Total porphyrin concentrations in his blood and urine were measured serially, disappearing on qualitative analysis after recovery from LT. His immunosuppressive regimen included cyclosporine (target trough concentration, 120-150 ng/mL for the first 3 months) mycophenolate (target trough concentration, 1-3 ng/mL for the first 3 months) and methylprednisolone. The safety of all drugs was checked using the drug database for acute porphyria (), to avoid the use of porphyrogenic agents.\nHe was hospitalized for 3 months after transplantation due to the requirement for rehabilitative treatment, enabling him to stand and walk. At present, 24 months after LT, the patient is doing well, with no complications.