Liver histology and histochemistry in Wilson disease

Madakshira, Manoj Gopal; Das, Ashim; Umairv, Mohammed; Dutta, Usha

doi:10.4322/acr.2018.026

Cited by 8 publications

(8 citation statements)

References 6 publications

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“…MDB are cytoplasmic hyaline inclusions within hepatocytes with a predominantly filamentous ultrastructure that were first described in 1911 in association with ALD. They are characteristically associated with ALD and NASH, but are also found in a variety of other liver diseases including chronic cholestasis (especially due to primary biliary cholangitis), certain types of drug induced liver injury (e.g., amiodarone toxicity), alpha 1 antitrypsin deficiency, idiopathic copper toxicosis, and hepatic focal nodular hyperplasia (80,81). MDB are also seen in up to 50% of WD patients (82).…”

Section: Alcohol-associated Liver Diseasementioning

confidence: 99%

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Schroeder¹,

Matsukuma²,

Medici³

2021

Ann Transl Med

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Objective: The goal of the present work is to provide an overview of the differential diagnosis of Wilson disease.Background: Wilson disease is a rare condition due to copper accumulation primarily in the liver and brain. Although there is no definitive cure, current anti-copper treatments are associated with better outcomes if initiated early and if the diagnosis is made promptly. However, diagnostic delays are frequent and often Wilson disease represents a diagnostic challenge. The diagnosis ultimately relies on a combination of clinical, laboratory and genetic findings, and it is crucial that clinicians list Wilson disease in their differential diagnosis, especially in patients presenting with a hepatocellular pattern of liver injury. Some biochemical and liver histological features of Wilson disease overlap with those of more common conditions including nonalcoholic fatty liver disease, alcohol-associated liver disease, and autoimmune hepatitis. In particular, hepatic steatosis, hepatocyte glycogenated nuclei, ballooning degeneration, and Mallory-Denk bodies are often identified in Wilson disease as well as more common liver diseases. In addition, the natural history of liver damage in Wilson disease and the risk of developing liver cancer are largely understudied. Methods:We conducted an enlarged review of published papers on Wilson disease focusing on its diagnosis and distinctive clinical and liver pathology features in relation to common non-cholestatic liver diseases with the final goal in aiding clinicians in the diagnostic process of this rare but treatable condition.Conclusions: Aside from markedly altered copper metabolism, Wilson disease has essentially no pathognomonic features that can distinguish it from more common liver diseases. Clinicians should be aware of this challenge and consider Wilson disease in patients presenting with a hepatocellular pattern of liver injury.

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Section: Alcohol-associated Liver Diseasementioning

confidence: 99%

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Schroeder¹,

Matsukuma²,

Medici³

2021

Ann Transl Med

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“…Two such records incorporate a proportion of alanine aminotransferase (ALT) by aspartate aminotransferase (AST), and a proportion of alkaline phosphatase (ALP) by total bilirubin (TB). An ALT/AST proportion of more than 2.2 contains a sensitivity of 94% and a specificity of 86%; the ALP/TB proportion of less than 4 encompasses a sensitivity of 94% and a specificity of 96% [4]. In Wilson disease, the 24-hour urine copper excretion is usually >100 μg (1.6 μmol) and almost always exceeds 40 μg (0.6 μmol).…”

Section: Laboratory Findingsmentioning

confidence: 99%

“…Histopathology of Wilson Disease DOI: http://dx.doi.org/10.5772/intechopen.95105 histological features similar to those of chronic hepatitis of any etiology including viral or autoimmune hepatitis, with the arrival of the portal and periportal inflammation composed of lymphocytes and plasma cells, which results in the destruction of the limiting plate, and parenchymal necrosis followed by bridging fibrosis [4]. Because of low-titer autoantibodies (mainly antinuclear antibodies) are commonly found in patients with WD, differential diagnosis with autoimmune hepatitis (AIH) can be more complicated.…”

Section: Steatosis and Anisonucleosis In A Hepatectomy Specimen (Hande)mentioning

confidence: 99%

“…In 1948, Cumings described the copper abnormalities in WD and in 1952, Scheinberg and Gitlin showed that the ceruloplasmin levels were low in most of WD patients. In 1956, Walshe introduced the penicillamine as a chelating agent, the first effective treatment for the condition [3,4]. This discovery of successful chelation therapy makes WD one of the most satisfying genetic diseases to be diagnosed and treated.…”

Section: Introductionmentioning

confidence: 99%

“…The mitochondrial changes are the most distinctive and pathogenetically significant and include heterogeneity of size and shape, increased matrix density, separation of inner from outer membranes, enlarged intercristal spaces and various types of inclusions. Importantly, ultrastructural mitochondrial changes in WD cannot be considered pathognomonic; although exceedingly rare with cholestatic liver disease, such changes are found with mtDNA depletion disorders [4,8].…”

Section: Introductionmentioning

confidence: 99%

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Histopathology of Wilson Disease

Soylu¹

2021

Liver Pathology

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Wilson Disease (WD) is a genetic metabolic disease of copper metabolism. The implicated gene is ATP7B, encodes a P-type ATPase which transports copper. The resultant defective metabolism of copper results in copper accumulation in multiple tissues especially liver, eye and central nervous system. WD occurs worldwide, usually between 5 and 35 years; a wider age range is also reported. Clinical presentations are diverse and include combinations of hepatic, neurological, ophthalmic and psychiatric manifestations. Other organs or tissues may also be affected. Biochemical abnormalities such as serum ceruloplasmin and 24-h urinary copper excretion are important for the diagnosis but are not always abnormal in WD. The liver histopathology has several different patterns from mild nonspecific changes to acute fulminant hepatitis and cirrhosis. Copper histochemistry is helpful in diagnosis. Genetic testing is another diagnostic tool. It is important to diagnose WD because it is fatal when overlooked, curable when diagnosed. The diagnosis should be keep in mind at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms.

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