Family with Marked Hyperferrltlnemsa as a Result of Hemochromatosis Type 4 (Ferroportin Disease)

摘要

Iron overload in MR-imaging with decreased signal intensity inT2 weighting of liver, spleen, adrenal gland and pituitary gland in combination with an extremely elevated ferritin level of 9859 ng/mL and a positive family history of hyperferritinae-mia led to the diagnosis of the rare hemochromatosis type 4 (synonym: ferroportin disease) in the case of a 62-year-old patient. The autosomal dominant disease was confirmed by analysis of the SLC40Al-gene. Histologically, a liver cirrhosis was detected. This was neither detectable in the case of the two similarly aged cousins (ferritin about 4750 ng/mL, transferrin saturation normal), nor in the case of the 82-year-old mother (ferritin 7860ng/dL, transferrin saturation 58%). Hemochromatosis type 4 with worldwide less than 200 described cases is caused by a disorder of the hep-cidin ferroportin metabolism, which regulates the iron export from the cells.