Dr Charlie Andrews speaks to Dr Jeremy Shearman about everything related to high iron levels (hyperferritinaemia).  We discuss how iron is regulated within the body, causes of raised iron levels, and then we dive into hereditary haemochromatosis - when to suspect, how to test, who to refer (and to whom!), and how the condition is managed.  

Useful links to accompany this episode include:

Welcome > Haemochromatosis: genetic iron overload disease (exeter.ac.uk)

Haemochromatosis - British Liver Trust

Key Learnings

Understanding Iron Regulation and Ferritin

• Ferritin is an acute-phase reactant and a marker of total body iron stores, but can be elevated in a range of conditions beyond iron overload, including inflammation, liver disease, and malignancy[2].

Causes of Hyperferritinaemia

• Raised ferritin can result from:

Hereditary Haemochromatosis: When to Suspect

• Primary care clinicians should suspect hereditary haemochromatosis in patients with persistently raised ferritin and transferrin saturation, especially with suggestive symptoms (e.g., fatigue, arthralgia, diabetes, liver dysfunction) or family history[2].

How to Test

• Initial investigations should include:

Who to Refer (and to Whom)

• Refer patients with confirmed iron overload (high ferritin and TSAT) or positive HFE mutation to hepatology or a relevant specialist for further assessment and management[2].

Management Principles

• For hereditary haemochromatosis, mainstay of treatment is venesection (therapeutic phlebotomy) to reduce iron stores.

Practical Tips for Primary Care

• Do not ignore isolated raised ferritin-always interpret in clinical context.

Summary Table: Approach to Hyperferritinaemia in Primary Care

These learnings equip primary care clinicians to approach hyperferritinaemia systematically, ensuring timely diagnosis, appropriate investigation, and effective referral and management[2][5].

Sources