HYPERFERRITINAMIA: What the clinician must know (Atena Editora)

Abstract

Ferritin is the main intracellular iron storage protein in all organisms. A small proportion of this protein circulates freely in the blood, constituting an indirect marker of iron deposits in the body. Serum ferritin concentrations > 300 μg/L in men and > 200 μg/L in women determine a state of hyperferritinemia, commonly found in routine laboratory tests in asymptomatic individuals. The key to diagnosis is determining its cause and whether it is related to iron overload. Hereditary hemochromatosis (HH) is the most common cause of iron overload, and is often considered the cause of hyperferritinemia, however, between 58% and 70% of cases do not have iron overload. Among the main causes of hyperferritinemia are: alcoholism, inflammatory syndrome, cytolysis and metabolic syndrome. If hyperferritinemia is accompanied by transferrin saturation >50%, a diagnosis of HH must be considered. The etiological diagnosis of hyperferritinemia is made through a careful clinical evaluation, including a detailed history of alcohol consumption, as well as metabolic risk factors (obesity, type 2 diabetes mellitus, dyslipidemia and hypertension). In addition to the clinical history, it is essential to perform ferrokinetic studies (serum ferritin and transferrin saturation). If there is still doubt about the association with iron overload, Nuclear Magnetic Resonance (NMR) must be used, as it is a non-invasive method and allows indirect quantification of the iron content in different organs. If major diagnoses are excluded, it is imperative to investigate rarer causes. It must be remembered that 40% of patients with hyperferritinemia have several causes simultaneously. The treatment for reducing excess iron in patients with hyperferritinemia associated with iron overload is phlebotomy. Other therapeutic modalities such as the use of iron binders and erythrocytapheresis may be considered in patients who cannot tolerate phlebotomy.