Clinically diagnosed late-onset fulminant Wilson’s disease without cirrhosis: A case report

Amano, Takahiro; Matsubara, Tokuhiro; Nishida, Tsutomu; Shimakoshi, Hiromi; Shimoda, Akiyoshi; Sugimoto, Aya; Takahashi, Kei; Mukai, Kaori; Yamamoto, Masashi; Hayashi, Shiro; Nakajima, Sachiko; Fukui, Koji; Inada, Masami

doi:10.3748/wjg.v24.i2.290

Cited by 10 publications

(8 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our case highlights that neurological features, which may be subtle, can precede or develop concurrently with ALF in WD. Tremor was also noted in an aforementioned case report, 15 and we would argue that tremor, drooling or slurred speech emerging prior to the development of encephalopathy are red flags for WD. While performing slit lamp examination may be challenging in critically ill patients, KF rings are seen in up to half of cases presenting with ALF and may be visible at the bedside.…”

Section: Discussionsupporting

confidence: 57%

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

et al. 2020

View full text Add to dashboard Cite

Background & Aims: Acute liver failure as the initial presentation of Wilson's disease is usually associated with onset in childhood, adolescence or early adulthood. Outcomes after transplantation for late-onset presentations, at or after 40 years, are seldom reported in the literature. Methods: We report a case, review the literature and provide unpublished data from the UK Transplant Registry on late-onset acute liver failure in Wilson's disease. Results: We describe the case of a 62-year-old man presenting with acute liver failure who was successfully treated with urgent liver transplantation. We identified 7 cases presenting at age 40 years or over in the literature, for which individual outcomes were reported; 3 were treated with transplantation and 2 survived. We identified a further 8 cases listed for transplantation in the UK between 1995 and 2014; 7 were treated with transplantation and 6 survived. One patient was delisted for unknown reasons. Conclusions: Wilson's disease should be considered in older adults presenting with acute liver failure. We suggest that urgent liver transplantation has good outcomes for late-onset presentations and recommend that urgent transplantation should always be considered in Wilson's disease presenting as acute liver failure.

show abstract

Section: Discussionsupporting

confidence: 57%

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Conversely, late onset WD over 40-year-old are also described in the literature and so far, 94 cases are reported: 20 case reports (21-33), 4 case series (28 patients) (34-37) and 1 large European study of 46 patients (38). These late forms can be limited to a strict hepatic phenotype sometimes with mild and unspecific clinical complaints (21,24,25,28,29,31,32,34,36), to an isolated Kayser-Fleischer ring (KFR) (22) or to a neurological disease with or without clinical evidence of liver involvement (23,26,27,30,33,35,36). For example, Ala et al reported the diagnostic features of two septuagenarian siblings.…”

Section: Atypical Age Of Onsetmentioning

confidence: 99%

Challenges in the diagnosis of Wilson disease

Poujois

2019

Ann. Transl. Med

View full text Add to dashboard Cite

The understanding and management of Wilson disease (WD) have dramatically improved since the first description of the disease by K. Wilson more than a century ago. However, the persistent long delay between the first symptoms and diagnosis emphasizes challenges in diagnosing earlier this copper overload disorder. As a treatable disease, WD should be detected early in the course of the disease by any health professionals at any care level, but the rare prevalence of the disease explains the lack of awareness of referring physicians. The most important challenge is to train physicians to recognize atypical or rare symptoms of WD that will lead to discuss the diagnosis more systematically. Atypia can come from the age of onset, the liver [non-alcoholic steatohepatitis (NASH) presentation], the central or peripheral nervous system (neuropathy, epilepsy, sleep disorders…) or may be due to lesions of other organs (renal manifestations, osteo-articular disorders or endocrine disturbances). Isolated biological anomalies, rare radiological findings or inadequate interpretation of copper test may also lead to misdiagnosis. The second challenge is to confirm the diagnosis faster and more effectively so as not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. Generalization of the exchangeable copper assay and the next generation sequencing (NGS) are two promising ways to overcome this ultimate challenge. By drawing attention to the earliest and rare symptoms and to new biomarkers and diagnostic tools, we hope that this article will increase diagnostic awareness and reduce delays so that patients can start their treatment earlier in the course of the illness and thus have a better disease prognosis.

show abstract

“…6 Copper-associated hepatopathy, which results from excessive hepatic copper accumulation, is common in dogs. This disease can be caused by a genetic defect of a copper transporter gene leading to disturbance in the biliary copper elimination, 7,8 exposure to an increased amount of copper in the diet or a combination of the two. 7,9,10 The mutation of the copper metabolism domain containing 1 (COMMD1) gene has been reported in the Bedlington Terrier.…”

Section: Introductionmentioning

confidence: 99%

Assessment of copper accumulation in archived liver specimens from cats

Yamkate

Gold

Xenoulis

et al. 2020

Journal of Feline Medicine and Surgery

View full text Add to dashboard Cite

Objectives The aim of this study was to assess hepatic copper concentrations and zonal distribution in cat liver specimens. Methods For this study, 121 archived, formalin-fixed, paraffin-embedded liver specimens from cats were used. Tissue sections were stained for copper with rhodanine and scored from 0 (no copper accumulation) to 5 (panlobular copper accumulation). The tissue specimens were then deparaffinized and hepatic copper concentrations were measured using flame atomic absorption spectroscopy. Results Tissue samples were categorized into four groups based on histopathologic findings: (1) no significant histopathologic hepatic changes (n = 66); (2) hepatic steatosis (n = 18); (3) inflammatory or infectious disease (n = 24); and (4) neoplasia (n = 13). Of the 121 specimens, 13 (11%) stained positive for copper, with three having a score ⩾3. Thirty-seven specimens (31%) had copper concentrations above the reference interval ([RI] <180 µg/g dry weight liver). Copper concentrations in cats with hepatic inflammatory or infectious disease were significantly higher than cats with hepatic steatosis ( P = 0.03). Copper-staining score and concentration were positively correlated ( rs = 0.46, P <0.001). Conclusions and relevance Despite the fact that 31% of specimens had copper concentrations above the RI, only 11% showed positive copper staining and only 2.5% had a score ⩾3. Our findings suggest that hepatic copper concentrations greater than the upper limit of the RI are relatively common in cats. Further studies to determine the factors that influence hepatic copper staining in cats and to establish contemporary RIs for hepatic copper in healthy cats are warranted.

show abstract

Clinically diagnosed late-onset fulminant Wilson’s disease without cirrhosis: A case report

Cited by 10 publications

References 12 publications

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

Challenges in the diagnosis of Wilson disease

Assessment of copper accumulation in archived liver specimens from cats

Contact Info

Product

Resources

About