Date of Award
Open Access Thesis
Medical Doctor (MD)
Kisha A. Mitchell
Wilson's disease is a rare autosomal recessive disorder of copper metabolism that often proves a difficult diagnosis for the both the clinician and pathologist largely because of its low incidence and variable presentations. There have been few studies detailing the histopathological features of hepatic specimens in patients with Wilson's disease and fewer correlating these features with clinical presentation. When left untreated, the disease is ultimately fatal, thus good diagnostic criteria that take into account the histopathological features of the disease is important. The aim of this study was to evaluate the histopathological features of hepatectomy and biopsy specimens in patients with Wilson's disease and correlate these features with the clinical parameters of these patients. Twelve biopsy and hepatectomy specimens from patients with Wilson's disease were reviewed and placed into three categories: (A) Near normal/mild, (B) Chronic hepatitis and (C) Acute injury on chronic hepatitis/decompensated cirrhosis. The clinical presentations were reviewed and any correlation between clinical parameters and anatomic features reported. Histopathological features consistent with previous findings in the early stages of Wilson's disease were found in group A with clinical findings in this category of mild elevation of transaminases. In group B, while typical markers of chronic hepatitis were found, glycogenated nuclei, a feature often reported as prominent in specimens with Wilson's disease hepatitis was absent. There was one patient with relevant laboratory data in this group, which was notable for mild elevations of transaminases. In group C, features of acute on chronic injury were found. Regarding clinical parameters, transaminases and bilirubin levels were increased, and alkaline phosphatase:total bilirubin ratio was consistent with previously reported findings of fulminant hepatic failure in Wilson's disease. Urinary copper levels increased with increasing levels of histopathological injury. Staining for copper proved to be an unreliable method of diagnosis. This characterization of the histopathological and clinical features of Wilson's disease further elucidates the challenge of Wilson's disease but also serves to provide some guidance to both clinician and pathologist as to how recognizing the variable presentations of the disease may help in establishing a diagnosis.
Johncilla, Melanie, "A Review Of Experience And Update On The Pathology Of Wilson's Disease: Correlations Between Histopathological And Clinico-Pathological Features" (2011). Yale Medicine Thesis Digital Library. 1568.