Strategies for early diagnosis of haemochromatosis

Genetic haemochromatosis is one of the most frequent inborn errors of metabolism. Only patients with early non-cirrhotic haemochromatosis treated by phlebotomies have a normal life expectancy. The present review analyses strategies for early diagnosis of haemochromatosis by using the Medline database and own data from a large cohort of patients with haemochromatosis. The still widely used approach to look for haemochromatosis in the presence of clinical complications such as liver disease will detect haemochromatosis in a considerable percentage of patients with Celtic origin. However, up to one half of these patients will already have an irreversible complication such as liver cirrhosis, diabetes mellitus or cardiomyopathy. In contrast, screening approaches of non-selected asymptomatic subjects using either determination of transferrin saturation and serum ferritin (phenotypic screening) or using genetic testing will detect haemochromatosis in most subjects in a precirrhotic stage without irreversible complications. Both phenotypic and genetic screening are highly cost-effective for detection of iron-loaded individuals in the general population. The current clinical approach to look for haemochromatosis in the presence of clinical disease is unacceptable. Only a more general type of screening in asymptomatic subjects including genetic testing will increase the rate of early diagnosis and will further improve the clinical outcome.