Z Gastroenterol 2019; 57(05): e130
DOI: 10.1055/s-0039-1691853
VORTRÄGE
Georg Thieme Verlag KG Stuttgart · New York

The Natural History of Ferroportin Disease – First Results of the International, Multicenter non-HFE Registry

B Schaefer
1   Medizinische Universität Innsbruck, Innere Medizin I, Gastroenterologie, Hepatologie, Endokrinologie und Stoffwechsel, Innsbruck, Austria
,
A Viveiros
1   Medizinische Universität Innsbruck, Innere Medizin I, Gastroenterologie, Hepatologie, Endokrinologie und Stoffwechsel, Innsbruck, Austria
,
E Corradini
2   University Hospital of Modena, Modena, Italy
,
F Massimo
2   University Hospital of Modena, Modena, Italy
,
S Scarlini
2   University Hospital of Modena, Modena, Italy
,
R Rametta
3   Universita Degli Studi Di Milano, Milano, Italy
,
S Pelucchi
4   University of Milano-Bicocca, S. GerardoHospital, Milano, Italy
,
F Busti
5   University of Verona, Verona, Italy
,
H Weissensteiner
6   Medizinische Universität Innsbruck, Genetische Epidemiologie, Innsbruck, Austria
,
S Schönherr
6   Medizinische Universität Innsbruck, Genetische Epidemiologie, Innsbruck, Austria
,
L Forer
6   Medizinische Universität Innsbruck, Genetische Epidemiologie, Innsbruck, Austria
,
E Bardou-Jaquet
7   CHU de Rennes – Université de Rennes, Rennes, France
,
J Ryan
8   Oxford University, Oxford, United Kingdom
,
O Loreal
7   CHU de Rennes – Université de Rennes, Rennes, France
,
H Drakesmith
9   Oxford University, Innsbruck, United Kingdom
,
G Weiss
10   Medizinische Universität Innsbruck, Innere Medizin II, Innsbruck, Austria
,
I Theurl
10   Medizinische Universität Innsbruck, Innere Medizin II, Innsbruck, Austria
,
F Kronenberg
6   Medizinische Universität Innsbruck, Genetische Epidemiologie, Innsbruck, Austria
,
D Girelli
5   University of Verona, Verona, Italy
,
A Piperno
4   University of Milano-Bicocca, S. GerardoHospital, Milano, Italy
,
A Pietrangelo
2   University Hospital of Modena, Modena, Italy
,
L Valenti
3   Universita Degli Studi Di Milano, Milano, Italy
,
G Porto
11   University of Porto and Center for Predictive and Preventive Genetics, Innsbruck, Austria
,
H Tilg
1   Medizinische Universität Innsbruck, Innere Medizin I, Gastroenterologie, Hepatologie, Endokrinologie und Stoffwechsel, Innsbruck, Austria
,
H Zoller
1   Medizinische Universität Innsbruck, Innere Medizin I, Gastroenterologie, Hepatologie, Endokrinologie und Stoffwechsel, Innsbruck, Austria
› Author Affiliations
Further Information

Publication History

Publication Date:
16 May 2019 (online)

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Background:

Ferroportin disease is an iron storage disorder caused by mutations in SLC40A1, the gene encoding the only cellular iron exporter. Despite being recognized as the commonest non-HFE hemochromatosis variant, little is known about clinical manifestations and complications as well as the natural history of ferroportin disease. The aim of the present study was to define the clinical and biochemical characteristics and management of patients with SLC40A1 mutations in comparison to HFE HH.

Method:

The EASL non-HFE registry study collect structured information on the clinical presentation, biochemistry, radiology, genetics and histology of patients with FPN disease. Data were compared with an age and sex matched cohort of patients diagnosed with HFE HH.

Results:

As of January 2019, 77 patients (41 female) with genetically confirmed FPN disease have been registered, representing the largest cohort of patients with disease-associated SLC40A1 mutations. Seventeen different mutations were reported. Eleven percent of patients presented with a HH type 4 phenotype. Demographic and biochemical parameters are shown in the Table. Patients with FPN disease had significantly lower serum iron, ferritin, and transferrin saturation when compared with HFE HH patients. Hepatic iron concentration determined by MRI was 135.5 (± 82.8)µmol/g in the FPN disease group as compared 123.2 (± 107)µmol/g in the HFE HH group (p = 0.405). Five-year survival rate was 95.6% in HFE HH patients as compared to 100% in individuals with SLC40A1 mutations. In the FPN group 45% of patients received regular phlebotomies (mean treatment duration 9.2 years, 0.85 phlebotomies/month).

Conclusion:

Although serum ferritin indicates more severe iron overload in patients with SLC40A1 mutations than in HFE associated HH, both groups show comparable hepatic iron concentration. In contrast, lower serum iron and transferrin saturation are associated with better outcome in FPN disease, despite low rate of iron reduction therapy in patients with SLC40A1 mutations.