Haemochromatosis & rare hepatic Iron-Loading Diseases (HILD)

About the Working Group

The Haemochromatosis and Rare Hepatic Iron-Loading Diseases Working Group brings together adult and paediatric hepatologists, researchers, junior professionals and patient representatives with expertise in hereditary haemochromatosis and other rare disorders associated with abnormal iron accumulation.

Haemochromatosis is a group of inherited disorders in which excessive iron absorption leads to progressive iron accumulation in the liver and other organs. If untreated, iron overload can cause liver fibrosis, cirrhosis and complications affecting the heart, pancreas, joints, endocrine system and other organs.

The Working Group also considers rarer hepatic iron-loading diseases, including non-HFE haemochromatosis and other inherited disorders of iron regulation and metabolism.

The group aims to improve diagnosis, disease classification, non-invasive assessment, patient information, registry development, education and collaboration across Europe.

Current Priorities and Projects

HILD registry

The Working Group is developing a registry for haemochromatosis and rare hepatic iron-loading diseases using the ERN RARE-LIVER registry infrastructure. Administrative preparations are underway.

The proposed registry may collect information on:

• Underlying genetic diagnosis
• HFE and non-HFE haemochromatosis
• Age and clinical presentation at diagnosis
• Biochemical markers of iron overload
• MRI-based liver iron concentration
• Liver fibrosis assessment
• Extrahepatic iron accumulation
• Treatment and follow-up
• Clinical outcomes

Further Projects

Non-invasive assessment in HILD: A proposed collaborative project examining how non-invasive tools are used to diagnose, stage and monitor haemochromatosis and rare hepatic iron-loading diseases. The project aims to describe current practice across participating centres, evaluate how these tools influence patient management and help define or promote best practices.

MRI assessment of iron overload: Investigation of how MRI is used to quantify liver iron concentration, assess the severity and distribution of iron overload, support differential diagnosis and monitor patients over time. This may be particularly relevant for severe or non-HFE haemochromatosis and unexplained hyperferritinaemia.

Liver fibrosis assessment: Investigation of the use of vibration-controlled transient elastography in hereditary haemochromatosis and other rare iron-loading diseases. Potential areas include its use at diagnosis and during follow-up, its relationship with iron concentration and clinical outcomes, and whether standardised recommendations can be developed.

Get Involved

Clinicians, researchers, paediatric specialists, geneticists, radiologists, haematologists, patient representatives and patient organisations interested in haemochromatosis and rare hepatic iron-loading diseases are welcome to become involved in the Working Group.

The group works on registry development, patient and clinician information, non-invasive assessment, education and collaboration to improve diagnosis and care across Europe.

For more information or to join the Working Group, please contact the ERN RARE-LIVER Coordination Office.

Working Group interest form:
https://ec.europa.eu/eusurvey/runner/ERN_LIVER_WorkingGroups