Objective: We describe an intriguing case of Wilson’s disease presenting with acute (fulminant) liver failure.

Background: Wilson’s disease usually presents between the age of 5 and 35 years [1]. Late-onset neurological and hepatic presentations are well described but acute (fulminant) liver failure over the age of 40 years is very rare [2]. A few cases have been reported including a 64-year old who did not survive [3] and a 44-year old who survived following transplantation [4].

Method: Case report.

Results: A 62-year-old right-handed construction worker presented with progressive exercise intolerance, leg swelling, diarrhoea and Raynaud’s phenomenon over four weeks before developing jaundice and then rapidly deteriorating with encephalopathy. His neurological examination on admission was normal but he later reported developing dysarthria and tremor in the upper limbs in the days before his deterioration. He had no significant past medical history and was extremely physically fit, regularly competing in marathons. There was no family history or preceding illnesses. He drank up to two units per week and did not take any medication but had started taking whey protein supplements several times per week around a decade earlier. He was successfully treated with super-urgent orthotopic liver transplantation however the post-operative course was complicated by an invasive aspergillosis infection in the brain and lungs. The neurological features have resolved except for a very subtle balance impairment.

Conclusion: We discuss the implications of this case for the diagnosis and management of late-onset Wilson’s disease and the importance of considering this diagnosis at any age. We review the literature on late-onset presentations of Wilson’s disease, including the evolution of neurological features in acute liver failure, and speculate whether whey protein supplements may have contributed to this presentation.

References: 1. Boga S, Ala A, Schilsky ML. Hepatic features of Wilson disease. Handb Clin Neurol 2017;142:91-99. 2. Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W. Late-onset Wilson’s disease. Gastroenterology. 2007 Apr;132(4):1294-8. 3. Amano T, Matsubara T, Nishida T, Shimakoshi H, Shimoda A, Sugimoto A, Takahashi K, Mukai K, Yamamoto M, Hayashi S, Nakajima S, Fukui K, Inada M. Clinically diagnosed late-onset fulminant Wilson’s disease without cirrhosis: A case report. World J Gastroenterol. 2018 Jan 14;24(2):290-296. 4. Kerber A, Sarrazin C, Allers C, Markus B, Engels K, Caspary W, Zeuzem S. 44-year-old patient with fulminant liver failure. Internist (Berl). 2003 Oct;44(10):1301-7.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/super-urgent-liver-transplantation-for-a-62-year-old-with-wilsons-disease-presenting-with-acute-liver-failure/