Non-invasive diagnosis and follow-up of hyperferritinaemia

Increased serum ferritin is a very frequent cause of referral for which thorough evaluation is required to avoid unnecessary exploration and inaccurate diagnosis. Clinicians must thus know factors and tools that are relevant in this setting. Several biochemical and radiological tools drastically improved the diagnosis work-up of increased serum ferritin. Because serum ferritin value can be altered by many cofounding factors, scrutiny in the initial clinical evaluation is crucial. Alcohol consumption, and the metabolic syndrome are the most frequent causes of secondary increased ferritin. Serum transferrin saturation level is a pivotal test, and if increased prompt testing for HFE C282Y patients in Caucasian population. In most cases further tests are require to establish whether increased ferritin is associated or not to iron overload. Magnetic resonance imaging is the reference method allowing to accurately establish liver iron content which indirectly reflect body iron load. Second line genetic testing for rare forms of iron overload or increased serum ferritin are available in reference center and should be discussed if diagnosis is equivocal or remain uncertain after careful evaluation. Definite genetic diagnosis is worthwhile as it allows family screening and refining long term management of the patient. Liver biopsy remains seldom useful to assess liver fibrosis, mostly in patients with severe iron overload.