Wilson's disease other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [3]

Overview

Liver biopsy is performed in suspected cases of Wilson’s disease as it may show many histopathological features. Liver biopsy may show mild steatosis, hepatocellular necrosis, macronodular cirrhosis, and fulminant liver failure features as parenchymal collapse. Genetic testing is also recommended in Wilson’s disease to obtain the family history of the disease and for early detection.

Other diagnostic studies

Liver biopsy

Liver biopsy is performed in suspected cases of Wilson’s disease.
Histological examination of a liver biopsy may show the following:^[1]
- Mild steatosis which is considered an early histological feature
- Glycogenated hepatic nuclei
- Autoimmune hepatitis histologic features
- Fibrosis and cirrhosis (macronodular or micronodular) in advanced cases
- Fulminant liver failure features which include:
  - Hepatocellular degeneration
  - Parenchymal collapse

Genetic testing

Genetic testing is recommended for the diagnosis of Wilson’s disease. Haplotypes pedigree analysis among the family members can be performed to obtain the family history of Wilson’s disease.^[2]
Prenatal genetic testing is also required for early diagnosis of Wilson’s disease.

References

↑ Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). “MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation”. AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.
↑ Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). “MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation”. AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.

Template:WH Template:WS

[pmid167753002-1] Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). “MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation”. AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.

[pmid16775300-2] Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). “MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation”. AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.

[1]

[2]