A case of primary haemochromatosis

Abstract

Introduction: The purpose of this case presentation is to alert the family doctor for the existence of hemochromatosis in clinical practice. Usually hemochromatosis presents nonspecifically, including fatigue and arthralgia, two of the most frequent reasons of consultation in General Practice. This article presents the integration of this semiology with the personal and familial history and physical examination and how it was essential for a rational diagnostic approach. Case description: 65 year old female, recurs for worsening of his chronicle complaints of fatigue and poliarthralgia. The heath patient problems are: hepatic steatosis and cardiac arrhythmia; family history of liver cancer, cardiomiopathy, diabetes, arthropathy and infertility. Among the laboratorial results was the finding of macrocytosis, ferritin - 419 ng/ml and tansferrin saturation index - 42%. Although the value was not considered suspect, it was inserted in the clinical picture. The genetic test revealed mutations on the hemochromatosis gene (HFE). The patient started periodic phlebotomy. Comment: Primary hemochromatosis (HP) is the most common heredo-familiar disease of recessive autossomic transmission of the world, but has a diverse variability of clinical presentation. One should consider it when coexists chronic fatigue, sexual dysfunction/infertility, arthropathy, hepatic, cardiac disease, diabetes or if these conditions are identified on a genogram. The consequences of hereditary hemochromatosis are preventable and some are reversible with treatment, so the importance of early acknowledgement. Ferritin and transferrin levels are useful to sort suspicious patients for hereditary hemochromatosis. Diagnostic criteria are not clearly established, but they include genetic factors together with symptoms and signs. We should screen siblings of patients with primary hemochromatosis, but not the general population.