Ferroportin Disease

First project: the natural history of ferroportin disease.

Background & Aims

We aim to elucidate the clinical presentation and risk of ferroportin disease and other iron overload disorders.

Join the project

Do you have data of patients with ferroportin disease?

Methods

Effortless data collection.

Goals

Prospective and retrospective assessment of disease prognosis and currently used treatment strategies for iron storage diseases.
Hemochromatosis Ferroportin Disease Acoeruloplasminemia

Retrospective assessment aims at determining disease prognosis and collect information on currently used treatment strategies for the different entities. The prospective study design aims at understand the epidemiology of these conditions and at collecting prospective data on disease prognosis and compilcations.

Presentation

What is the clinical presentation of non-HFE associated hepatic iron overload diseases (non HFE hemochromatosis, ferroportin disease and acoeruloplasminemia)?

Risk

What is the risk of developing hepatic and non-hepatic complications (heart disease, arthropathy, diabetes, hypogonadism etc.) in non-HFE associated hepatic iron overload diseases over time?

Diagnosis

How do initial diagnosis, staging and follow up differ in patients with HFE and non HFE associated hemochromatosis?

Treatment

Which treatment strategies are used in non-HFE associated hepatic iron overload diseases and does treatment affect disease course?

Mutations

What is genetic architecture of non-HFE associated hepatic iron overload diseases (i.e. what is the clinical significance of specific mutations)?

Genetic testing

When is genetic testing beyond HFE genotyping recommended and what are the implications of test results for disease management?

Researcher

The projct is suported by an EASL registry grant.

Heinz Zoller

Principal investigator
Heinz Zoller is a Consultant Hepatologist and Associate Professor of Medicine at the University Hospital of Innsbruck. He is coauthor of EASL’s clinical practice guidelines on hemochromatosis and a international recognized export on iron metabolism.

Benedikt Schaefer

Investigator
Benedikt Schaefer is a resident doctor and Phd student at the University Hospital of Innsbruck with a research focus in iron metabolism.

André Viveiros

Investigator

Armin Finkenstedt

Investigator

Florian Kronenberg

Epidemiologist

Lukas Forer

Computer Scientist

Hansi Weissensteiner

Computer Scientist

Sebastian Schönherr

Computer Scientist

Hal Drakesmith

Secretary of the European Iron Club
Hal Drakesmith is an Associate Professor of Immunology at the Beit Memorial Trust for Medical Research Fellow and secretary of the European Iron Club.

Many more…

So far, a consortium of 29 collaborators from 17 different institutions are involved in the project.