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High Iron Levels (hyperferritinaemia)

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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 for Primary Care from the Ingest Podcast on Hyperferritinaemia

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].
  • Understanding the physiological regulation of iron is crucial for interpreting ferritin results in context.

    • Causes of Hyperferritinaemia

    • Raised ferritin can result from:
    • Hereditary haemochromatosis (genetic iron overload)
    • Chronic inflammatory states (e.g., infection, autoimmune disease)
    • Liver disease (e.g., alcoholic liver disease, hepatitis)
    • Malignancy
    • Metabolic syndrome
    • It is important to consider these differential diagnoses when encountering an elevated ferritin[2].

      • 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].
      • Early recognition is key, as treatment can prevent complications.

        • How to Test

        • Initial investigations should include:
        • Repeat ferritin measurement to confirm persistence
        • Transferrin saturation (TSAT): TSAT >45% is suggestive of iron overload
        • Liver function tests and assessment for other causes of raised ferritin[2]
        • If hereditary haemochromatosis is suspected, genetic testing (HFE gene) should be considered.

          • 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].
          • Referral is also warranted if there are signs of organ involvement (e.g., abnormal LFTs, diabetes, cardiac symptoms).

            • Management Principles

            • For hereditary haemochromatosis, mainstay of treatment is venesection (therapeutic phlebotomy) to reduce iron stores.
            • Primary care plays a role in monitoring, supporting adherence, and managing comorbidities.
            • For other causes, management is directed at the underlying condition.

              • Practical Tips for Primary Care

              • Do not ignore isolated raised ferritin-always interpret in clinical context.
              • Exclude common secondary causes (infection, inflammation, liver disease) before pursuing rare diagnoses.
              • Family screening may be appropriate in hereditary haemochromatosis cases[2].
              • Use local guidelines and specialist advice where available.
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