title: [Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)].
abstract: 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.
authors.affiliation: Klinik für Gastroenterologie und interventionelle Endoskopie, Akademisches Lehrkrankenhaus Universität Regensburg, Krankenhaus Barmherzige Brüder, Regensburg.
authors.forename: K
authors.initials: K
authors.lastname: Muehlenberg
authors.affiliation: Klinik für Gastroenterologie und interventionelle Endoskopie, Akademisches Lehrkrankenhaus Universität Regensburg, Krankenhaus Barmherzige Brüder, Regensburg.
authors.forename: N
authors.initials: N
authors.lastname: Faltermeier
authors.affiliation: Institut für Laboratoriumsmedizin und Molekulargenetik, Singen.
authors.forename: P
authors.initials: P
authors.lastname: Lohse
authors.affiliation: Ruhr-Universität Bochum, Institut für Pathologie, Bochum.
authors.forename: A
authors.initials: A
authors.lastname: Tannapfel
authors.affiliation: Klinik für Gastroenterologie und interventionelle Endoskopie, Akademisches Lehrkrankenhaus Universität Regensburg, Krankenhaus Barmherzige Brüder, Regensburg.
authors.forename: O
authors.initials: O
authors.lastname: Pech
mesh_terms: D000369:Aged, 80 and over; D002386:Cataract / Q000151:congenital* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006432:Hemochromatosis / Q000151:congenital* / Q000473:pathology*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged