Haemochromatosis: Diagnosis and Management.
Introduction
Haemochromatosis is a group of disorders characterised by excessive iron accumulation. Hereditary haemochromatosis is usually inherited as an autosomal recessive condition and results from increased intestinal iron absorption. Over time, excess iron may accumulate in organs—most commonly the liver, heart and pancreas—causing fibrosis, organ dysfunction and irreversible complications. Because early disease is often asymptomatic or associated with nonspecific symptoms, diagnosis requires clinical awareness and appropriate interpretation of iron studies. Prompt recognition and treatment can prevent or limit organ damage and substantially improve prognosis. However, haemochromatosis may be overlooked when suspicion is low or over diagnosed when an isolated raised ferritin concentration is assumed to indicate iron overload. This article provides a practical overview of when to suspect haemochromatosis and how to investigate, diagnose and manage it.