Z Gastroenterol 2024; 62(05): e494
DOI: 10.1055/s-0044-1786922
Abstracts │ ÖGGH
POSTER
Hepatologie

The natural history of ferroportin disease – Results of the international, multicenter EASL non-HFE registry

Authors

  • B. Schaefer

    1   Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology and Endocrinology, Innsbruck, Austria

  • M. Troppmair

    1   Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology and Endocrinology, Innsbruck, Austria

  • S. Scarlini

    2   Internal Medicine Unit and Centre for Hemochromatosis and Hereditary Liver Diseases, ERN-EuroBloodNet and ERN-RARE-LIVER, Azienda Ospedaliero-Universitaria di Modena-Policlinico, Modena, Italy

  • A. Ricci

    3   Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy

  • S. Pelucchi

    4   School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy

  • G. Porto

    5   Clinical Hematology, CHUP-Centro Hospitalar Universitário do Porto, Porto, Portugal

  • F. Busti

    6   Department of Medicine, Section of Internal Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy

  • M. Sanchez

    7   Iron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Spain

  • H. Weissensteiner

    8   Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

  • S. Schönherr

    8   Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

  • L. Forer

    8   Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

  • F. Kronenberg

    8   Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

  • L. Pammer

    1   Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology and Endocrinology, Innsbruck, Austria

  • C. Kremser

    9   Medical University of Innsbruck, Department of Radiology, Anichstrasse 35, Innsbruck, Austria

  • B. Henninger

    9   Medical University of Innsbruck, Department of Radiology, Anichstrasse 35, Innsbruck, Austria

  • P. Santos

    10   Department of Pharmacology - Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

  • A. Peng

    11   Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science and Nutritional Engineering, Beijing, China

  • F. Wang

    12   School of Public Health, Zhejiang University School of Medicine, Hangzhou, China

  • M. De Gobbi

    13   University of Torino, Department of Clinical and Biological Sciences, AOU San Luigi Gonzaga, Orbassano, Turin, Austria

  • U. Sule

    14   Hacettepe University, Division of Pediatric Hematology, Ankara, Turkey

  • Y. Noriyuki

    15   Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan

  • H. Drakesmith

    16   Medical Research Council Human Immunology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom

  • H. Tilg

    1   Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology and Endocrinology, Innsbruck, Austria

  • E. Bardou-Jacquet

    17   Department of Liver Diseases CHU de Rennes, Rennes 1 University, Pontchaillou Hospital, Rennes, France

  • D. Girelli

    6   Department of Medicine, Section of Internal Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy

  • A. Piperno

    18   Centre for Rare Disease-Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network-EuroBloodNet, Monza, Italy

  • A. Pietrangelo

    19   Internal Medicine Unit and Centre for Hemochromatosis and Hereditary Liver Diseases University of Modena and Reggio Emilia, Modena, Italy

  • E. Corradini

    20   Internal Medicine Unit and Centre for Hemochromatosis and Hereditary Liver Disease, University of Modena and Reggio Emilia, Modena, Italy

  • H. Zoller

    1   Medical University of Innsbruck, Department of Internal Medicine I, Gastroenterology, Hepatology and Endocrinology, Innsbruck, Austria
Further Information
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Background and Aims:  Ferroportin (FPN) disease and non-HFE-related hemochromatosis (former type 4B) are phenotypically distinct diseases caused by mutations in SLC40A1 . Transferrin saturation and splenic/macrophage iron overload distinguish FPN disease from hemochromatosis. Prognosis and management of patients with SLC40A1 mutations has been inferred from HFE hemochromatosis, despite differences in phenotypic presentation. We aim to define the clinical characteristics and management of patients with SLC40A1 mutations in comparison to HFE hemochromatosis.

Methods:  The EASL non-HFE registry study collected structured clinical data from 95 patients with SLC40A1 mutations and was expanded by 339 published cases from a systematic literature search. Data were compared with an age and sex matched cohort of patients diagnosed with HFE C282Y homozygous hemochromatosis.

Results:  Individuals with FPN disease had significantly lower serum iron, ferritin, and transferrin saturation when compared with hemochromatosis patients. Thirty-three percent of patients presented with a non- HFE related hemochromatosis phenotype. Median hepatic and splenic iron concentration was higher in individuals with SLC40A1 mutations as compared to the HFE hemochromatosis group (p<0.001). Mean survival after diagnosis was 32.6 years in individuals with SLC40A1 mutations as compared to 24.4 years in HFE hemochromatosis patients (p=0.509). In the SLC40A1 group, 74% of patients received phlebotomies (median: 0.7/month) which was not associated with survival.

Conclusion:  Higher ferritin and hepatic iron concentrations indicate more severe iron overload in patients with SLC40A1 mutations compared to hemochromatosis patients, but both groups show comparable survival. Phlebotomy treatment was not associated with a survival benefit.


Publication History

Article published online:
05 June 2024

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