We have located links that may give you full text access.
CASE REPORTS
ENGLISH ABSTRACT
JOURNAL ARTICLE
[Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)].
Zeitschrift Für Gastroenterologie 2014 September
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.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app