[A young diabetic with small-nodule liver cirrhosis, high transferrin saturation and negative HFE test].

Abstract

HISTORY:

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.

FINDINGS:

Using the mini-laparascopic technique we diagnosed a smallnodular liver cirrhosis with an iron overload.

DIAGNOSIS AND TREATMENT:

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: M Eisold, S Gehrke, W Stremmel, R Gugler
• Journal: Deutsche medizinische Wochenschrift (1946) (Dtsch Med Wochenschr) Vol. 130 Issue 24 Pg. 1494-6 (Jun 17 2005) ISSN: 0012-0472 [Print] Germany
• Vernacular Title: Junge Patientin mit Diabetes mellitus, kleinknotiger Leberzirrhose, hoher Transferrin-Sättigung und negativem HFE-Test.
• PMID: 15942838 (Publication Type: Journal Article)

Chemical References

• DNA-Binding Proteins
• FOXQ1 protein, human
• Forkhead Transcription Factors
• GPI-Linked Proteins
• HFE protein, human
• HJV protein, human
• Hemochromatosis Protein
• Histocompatibility Antigens Class I
• Membrane Proteins
• Trans-Activators
• Transferrin
• Iron

Topics

• Adult
• Biopsy
• Chromosomes, Human, Pair 1
• Chromosomes, Human, Pair 6
• DNA Mutational Analysis
• DNA-Binding Proteins
• Diabetes Mellitus, Type 1 (diagnosis, genetics)
• Female
• Forkhead Transcription Factors
• GPI-Linked Proteins
• Hemochromatosis (classification, diagnosis, genetics)
• Hemochromatosis Protein
• Histocompatibility Antigens Class I (genetics)
• Humans
• Hyperpigmentation (diagnosis, genetics)
• Iron (metabolism)
• Laparoscopy
• Liver (pathology)
• Liver Cirrhosis (diagnosis, genetics)
• Magnetic Resonance Imaging
• Membrane Proteins (genetics)
• Trans-Activators
• Transferrin (metabolism)
• Ultrasonography