Diagnosis and management of hereditary haemochromatosis

Hereditary haemochromatosis is an autosomal recessive genetic disease in which increased intestinal absorption of iron causes accumulation in tissues, primarily the liver, sometimes leading to organ damage. Liver deposits may result in cirrhosis and even death. A systematic review has shown that about 0.4% of people of northern European descent have the genetic mutation that increases the risk of developing haemochromatosis,1 but the clinical penetrance of the mutation is much lower than the genetic prevalence. Symptoms and signs are initially non-specific, so the disease is often diagnosed at a late stage when substantial organ damage has already occurred. The challenge is to avoid both overdiagnosis and underdiagnosis. Since the discovery of the genetic mutation, new knowledge has come to light on the pathophysiology and course of the disease. This has led to new recommendations on diagnosis and treatment. In addition, new treatments are under evaluation. We review evidence from experimental and observational studies, systematic reviews, and guidelines to summarise for the general reader the clinical presentation, diagnosis, including early screening options, and management of hereditary haemochromatosis.