Familie mit ausgeprägter Hyperferritinämie als Folge einer Hämochromatose Typ 4 (Ferroportin-Krankheit)

Zusammenfassung

Eiseneinlagerungen mit Signalminderung in der T2-Wichtung der Kernspintomografie von Leber, Milz, Nebennieren und Hypophyse führten in Verbindung mit einem extrem hohen Ferritin von 9859 ng/mL und einer positiven Familienanamnese einer Hyperferritinämie zur Diagnose der seltenen Hämochromatose Typ 4 (synonym: Ferroportin-Krankheit) bei einem 62-jährigen Patienten. Die autosomal-dominate Erkrankung ließ sich durch die Untersuchung des SLC40A1-Genes sichern. Histologisch lag bereits eine Leberzirrhose vor. Diese war weder bei zwei etwa gleich alten Cousinen (Ferritin um 4750 ng/mL, Transferrinsättigung normal) noch bei der 82-jährigen Mutter (Ferritin 7860 ng/dL, Transferrinsättigung 58 %) nachweisbar. Der Hämochromatose Typ 4 mit weltweit weniger als 200 beschriebenen Fällen liegt eine Störung im Hepcidin-Ferroportinstoffwechsel zugrunde, das den Eisenexport aus der Zelle reguliert. Ein hepatozelluläres Karzinom kann auch ohne zirrhotischen Umbau vorkommen. Daher ist eine Überwachung dieser Patienten erforderlich. Therapie sind Aderlässe, alternativ Chelatpräparate (Deferoxamin, Deferasirox), falls sich eine Anämie entwickelt.

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.

Schlüsselwörter

Hämochromatose Typ 4 - Hyperferritinämie - Kernspintomografie - SLC40A1-Gen - Mutation

Key words

haemochromatosis type 4 - hyperferritinaemia - magnetic resonance imaging - SLC40A1 gene - mutation

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