Wilson disease on occasion can lead to liver failure and hepatic encephalopathy, which may require urgent liver transplantation. This point is succinctly illustrated in a case study presented by Huang and colleagues in the American Journal of Case Reports.
A 17-year-old female presenting with acute abdominal pain, diarrhea, and malaise was diagnosed with acute liver failure and admitted. She did not have a history of liver disease, but her older brother was previously suspected of having Wilson disease.
Read more about Wilson disease etiology
With this in mind, a physical examination demonstrated general jaundice and a distended abdomen with obvious signs of ascites. Kaiser-Fleischer rings were noted. She appeared alert and conscious. Laboratory investigations demonstrated leukocytosis (22,800/µL), thrombocytopenia (2.3 x 104/µL), prolonged prothrombin time (23%), high total bilirubin (59.1 mg/dL), high uric copper (10,603 µg/day), and low ceruloplasmin (15 mg/dL). A diagnosis of Wilson disease was hence established.
A computed tomography (CT) scare demonstrated splenomegaly and ascites, but no signs of cirrhosis. She had class C Child-Pugh status (11 points) and a MELD score of 35 points. Despite a normal neurological/neuropsychiatric examination, she was diagnosed with grade 2 encephalopathy. She also had anuria.
Liver Transplantation and Subsequent Complications
On day 3 of admission, she was transferred to the intensive care unit and received continuous hemodiafiltration and plasma exchange. Her physicians decided that she was a good candidate for liver transplantation, which was performed with her 44-year-old mother as a living donor. The main complication from the surgery was inferior right hepatic vein compression due to twisted venous anastomosis between the inferior vena cava and the liver graft, which was remedied in an emergency operation.
“Following the reoperation, however, the patient’s liver function was not fully recovered,” Huang et al wrote.
After ruling out accelerated rejection by liver biopsy, interventional radiology with stenting was performed in both the right hepatic vein and the inferior right hepatic vein. This improved her hepatic and renal function, allowing hemodialysis to be withdrawn on day 46 postop. She was discharged on day 114; a repeat CT scan approximately 3 months later showed satisfactory liver growth and the absence of perfusion injury. She now has good liver and renal function.
Liver Failure in Wilson Disease
“Indications for liver transplantation in patients with Wilson disease are those with [acute liver failure], as defined by the rapid development of severe hepatic insufficiency with coagulopathy and with hepatic encephalopathy, with progression of liver dysfunction to liver failure despite drug therapy, and those with acute on chronic liver failure due to [Wilson disease],” Chanpong and Dhawan wrote in the Saudi Journal of Gastroenterology.
In the case of this patient, she had a most unusual presentation in that she presented with liver failure without a history of liver disease; in addition, she had significant jaundice and ascites, meaning that an intervention could have come sooner if she had brought forward those concerns upon first presentation.
Fortunately, the diagnostic process for Wilson disease is relatively simple, and laboratory investigations clearly established the diagnosis. Hence, the patient’s physicians were able to quickly piece together that she was suffering from liver failure and hepatic encephalopathy secondary to Wilson disease, and to perform an immediate assessment on the risk versus benefit ratio of carrying out a liver transplantation.
Had the patient presented with acute liver failure without hepatic encephalopathy, she could feasibly be treated with chelation agents alone; however, this was not the case, the authors noted. Her Child-Pugh and MELD scores were probably severe enough to push her physicians towards a decision of liver transplantation, they added.
“She suffered from [acute liver failure], [acute renal failure], and grade 2 hepatic encephalopathy. This situation, termed fulminant Wilson’s disease, would certainly have been life-threatening without proper intervention,” Huang et al wrote on their decision to recommend liver transplantation.
It was fortunate that the patient had a mother who was “strongly motivated” to offer part of her liver to save her daughter’s life, which meant that the surgery could proceed at first opportunity, the authors noted. Barring the initial complications mentioned, the surgery was overall a success, they added. Posttransplantation, liver function typically improves in the majority of patients between 2 to 6 months; this was the case in this patient as well.
Read more about Wilson disease treatment
The question of whether the patient’s diagnosis of Wilson disease could have been made much sooner deserves exploration. Huang et al recommend that any case of unexplained liver disease be evaluated for Wilson disease, with or without the presence of neurological/psychiatric symptoms.
The case study as presented is silent about any prior clinical visits regarding symptoms associated with liver disease/Wilson disease, but based on her clean medical history we can assume that no substantial investigations were initiated prior to her presentation at the emergency department.
It is largely the herculean efforts of her present physicians that saved her life; they were quick to do the necessary to arrive at a timely diagnosis of Wilson disease, carried out a liver transplantation in a matter of days, and expertly dealt with surgical complications afterwards. The fact that the patient’s liver and renal function returned to normal is testament to the soundness of her physician’s decision-making process and excellence in administering care.
References
Huang Y, Takatsuki M, Soyama A, et al. Living donor liver transplantation for Wilson’s Disease associated with fulminant hepatic failure: a case report. Am J Case Rep. Published online March 17, 2018. doi:10.12659/ajcr.907494
Chanpong A, Dhawan A. Wilson disease in children and young adults — state of the art. Saudi J Gastroenterol. Published online January 12, 2022. doi:10.4103/sjg.sjg_501_21
