上昇したフェリチンは遺伝性ヘモクロマトーシスか否か？

A raised serum ferritin (>300 µg/l in men or >200 µg/l in women) is a common finding during routine investigations in primary care. It is often non-specific since it is both an iron-storage protein and acute-phase reactant. As such, a raised ferritin level should be interpreted primarily as a context-dependent signal of disease activity rather than a direct measure of iron burden. Common causes of hyperferritinaemia include liver pathologies, metabolic syndrome and autoimmune conditions and infection. Hereditary haemochromatosis (HH) is also a cause of elevated ferritin levels but less common compared to the aforementioned causes. Appropriate investigations in someone with abnormally high ferritin levels include transferrin saturation (TSAT) and markers of infection, inflammation and liver function to rule out non-iron-overload causes. HH may be considered if the TSAT is persistently ≥50% for males and ≥40% for females in those with ferritin above the reference range. Any patient with confirmed HH should be offered iron-reduction therapy usually with therapeutic phlebotomy. Haemochromatosis UK and NHS Blood & Transplant have pathways for HH patients to donate venesected blood. Physicians should be aware of such pathways and consider referrals for eligible patients after shared decision-making.