title: [A young diabetic with small-nodule liver cirrhosis, high transferrin saturation and negative HFE test].
abstract: METHODS
  A 28 year young female presented to our hospital for further evaluation with recently diagnosed diabetes mellitus, hyperpigmentation of the skin, hepato- and splenomegaly, thrombocytopenia and an elevated transferrin saturation (96 %), but a negative test for HFE gene mutations such as C282Y and H63D.
  
  
  RESULTS
  Using the mini-laparascopic technique we diagnosed a smallnodular liver cirrhosis with an iron overload.
  
  
  METHODS
  This is the clinical presentation of one subtype of the so called Non-HFE-hemochromatosis, the juvenile hemochromatosis (HFE2). Other causes of primary and secondary iron overload have been ruled out. Different from the HFE-positive hemochromatosis (HFE 1) in which the gene defect is located on chromosome 6, the defect in HFE 2 is located on chromosome 1. The underlying genetic defect has been localized within recently identified HJV gene. Phlebotomy is the treatment of choice, to be performed until the ferritin level is lower than 50 microg/l.
  
  
  CONCLUSIONS
  If liver cirrhosis is present in hemochromatosis, the overall risk of developing heptatocellular carcinoma is 20 times higher than in the normal population. Therefore it is suggested to perform an ultrasound examination of the liver and an AFP-test every 6 months, whereas an MRI-scan should be performed once a year, as a basis for further treatment options.
authors.affiliation: I. Medizinische Klinik, Städtisches Klinikum Karlsruhe.
authors.forename: M
authors.initials: M
authors.lastname: Eisold
authors.forename: S
authors.initials: S
authors.lastname: Gehrke
authors.forename: W
authors.initials: W
authors.lastname: Stremmel
authors.forename: R
authors.initials: R
authors.lastname: Gugler
mesh_terms: D000328:Adult; D001706:Biopsy; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis* / Q000235:genetics; D007501:Iron / Q000378:metabolism; D010535:Laparoscopy; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D015534:Trans-Activators; D014168:Transferrin / Q000378:metabolism*; D014463:Ultrasonography
chemical_list: D004268:DNA-Binding Proteins; C484579:FOXQ1 protein, human; D051858:Forkhead Transcription Factors; D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D015534:Trans-Activators; D014168:Transferrin; D007501:Iron