[Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)]. / Familie mit ausgeprägter Hyperferritinämie als Folge einer Hämochromatose Typ 4 (Ferroportin-Krankheit).

Iron overload in MR-imaging with decreased signal intensity in T2 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 hyperferritinaemia 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 SLC40A1-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 7860  ng/dL, transferrin saturation 58 %). Hemochromatosis type 4 with worldwide less than 200 described cases is caused by a disorder of the hepcidin ferroportin metabolism, which regulates the iron export from the cells. A hepatocellular carcinoma may occur even without cirrhosis. Therefore, surveillance of these patients is necessary. Treatment options are therapeutic phlebotomies and alternatively iron-chelating drugs (Deferoxamin, Deferasirox) if the patient develops anaemia.