Key Takeaways

An elevated ferritin is typically caused by 1) iron overload, 2) inflammation or 3) cell leak.

A fourth – extremely rare – diagnostic bucket is a patient with constitutive expression of L-ferritin (hereditary hyperferritinemia-cataract syndrome [HHCS]).

In HHCS, there is a mutation in the iron regulatory element (IRE) in the L-ferritin gene (FTL), which reduces iron regulatory protein (IRP) binding and impairs the normal suppression of L-ferritin translation at low intracellular iron concentrations. This leads to unregulated expression of L-ferritin and hyperferritinemia.

Cataracts are the only clinical manifestation of HHCS.

Diagnosis of iron deficiency in patients with HHCS may be challenging because ferritin expression and serum levels are impervious to the body’s iron stores. They march to their own tune and are high even in severe iron deficiency.

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