Wilson's disease and hereditary hemochromatosis are two inherited diseases with life-threatening complications. Early recognition and prompt treatment may be instrumental in reducing such complications associated with these disorders. Although both Wilson's disease and hereditary hemochromatosis are genetic in nature, the two conditions have distinct, unrelated genetic etiologies. Two distinct, separate mutations are required for simultaneous existence of the two diseases. As such, the likelihood of the two conditions coexisting is exceedingly rare. Here we report a case of a 23-year-old male with hereditary hemochromatosis with coexistent Wilson's disease. Only two reported cases exist in which this dual diagnosis was present simultaneously. In our patient, laboratory evaluation demonstrated elevated ferritin, transferrin saturation >90%, and subsequent liver biopsy demonstrated diffuse fibrotic changes. Confirmatory genetic analysis revealed the patient to be a compound heterozygous for C282Y and H63D gene mutations. Given the patient's young age and the improbability of hemochromatosis-induced hepatic damage at that age, an alternative diagnosis was sought. Further analysis revealed reduced serum cerulopiasmin along with elevated urinary copper excretion. Subsequent ophthalmologic exam revealed bilateral Kaiser Fleischer rings. In conclusion, Wilson's disease and genetic hemochromatosis both involve inherent flaws in the transportation of heavy metals and their accumulation in hepatocytes. Although both diseases arise from distinctly different genetic mutations, the coincidence of the two disorders can, in rare cases, occur.
|Original language||English (US)|
|Number of pages||4|
|Journal||Journal of the National Medical Association|
|Publication status||Published - Jan 2008|
All Science Journal Classification (ASJC) codes