title: A rare case of hemochromatosis and Wilson's disease coexisting in the same patient.
abstract: 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 ceruloplasmin 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.
authors.affiliation: Department of Internal Medicine, Creighton University Medical Center, Omaha, NE 68198, USA. jamilabuzetun@creighton.edu
authors.forename: Jamil Y
authors.initials: JY
authors.lastname: Abuzetun
authors.forename: Ribhi
authors.initials: R
authors.lastname: Hazin
authors.forename: Manar
authors.initials: M
authors.lastname: Suker
authors.forename: Joann
authors.initials: J
authors.lastname: Porter
mesh_terms: D000328:Adult; D006432:Hemochromatosis / Q000150:complications* / Q000235:genetics; D000071020:Hemochromatosis Protein; D006527:Hepatolenticular Degeneration / Q000150:complications*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins