Search

Résumé La découverte d’une hyperferritinémie est le plus souvent fortuite. La démarche diagnostique a pour but de rechercher l’étiologie responsable et de vérifier s’il existe ou non une surcharge hépatique en fer. Trois étapes sont proposées. Les éléments cliniques et quelques examens biologiques simples sont suffisants dans un premier temps pour déceler une des quatre causes les plus fréquentes : alcoolisme, syndrome inflammatoire, cytolyse, syndrome métabolique. Aucune de ces causes ne s’accompagne d’une surcharge hépatique en fer importante. S’il existe un coefficient de saturation élevé (> 50 %), une hémochromatose héréditaire sera évoquée en priorité. Dans un deuxième temps, des pathologies plus rares seront recherchées. Parmi celles-ci, seules les pathologies hématologiques chroniques, acquises ou congénitales, sont à risque de surcharge hépatique en fer. Dans un troisième temps, si un doute persiste dans la recherche étiologique, que la ferritinémie est très élevée ou continue à s’élever, il est indispensable de vérifier qu’il n’existe pas une surcharge hépatique en fer. Pour cela, l’IRM avec étude de la charge en fer est l’examen principal qui guidera l’attitude thérapeutique. La découverte d’une cause ne doit pas faire oublier que plusieurs causes sont associées dans plus de 40 % des cas. The discovery of a hyperferritinemia is most of the time fortuitous. The diagnostic approach aims at looking for the responsible etiology and at verifying if an iron hepatic overload is present or not. Three diagnostic steps are proposed. The clinical elements and a few straightforward biological tests are sufficient at first to identify one of the four main causes: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with a significant iron hepatic overload. If the transferring saturation coefficient is raised (> 50%) a hereditary hemochromatosis should be discussed. Secondly, less common disorders will be discussed. Among these, only the chronic hematological disorders either acquired or congenital are at risk of iron hepatic overload. Thirdly, if a doubt persists in the etiologic research, and the serum ferritin level is very high or continues to rise, it is essential to verify that there is no iron hepatic overload. For that purpose, the MRI with study of the iron overload is the main test, which will guide the therapeutic attitude. Identification of more than a single etiology occurs in more than 40% of the cases. [ABSTRACT FROM AUTHOR]

Abstract: Serum ferritin levels may be increased in many conditions: renal diseases, liver diseases, human immunodeficiency virus infection. The purpose of this study was to assess the aetiological spectrum of high serum ferritin levels in a 1200-bed university hospital, to compare our results with the data already published and to assess a potential association between aetiology and ferritin levels. Patients and methods. – Patients with a serum ferritin level higher than 600 μg/l were retrospectively included between 15 November 2003 and 15 January 2004, and their medical records were reviewed. Results. – Ninety-eight patients (38 women and 60 men; median age: 59,5 years [19–92]) were recruited in departments of hepatology and gastroenterology (22%), haematology (14%) and internal medicine (10%). Diagnosis performed were: non-HIV systemic infections (23,8%), haematological diseases (16,1%), alcoholism (11,2%) and malignancies (9,8%). Dialysed chronic renal failure, liver diseases, haemochromatosis and systemic inflammatory diseases counted for 4.2 to 5.2% of cases. Serum ferritin level lied between 600 and 1000 μg/l for 50 patients, between 1000 and 1500 μg/l for 24, and over 1500 μg/l for 24. There was no significant difference between the three groups as regards the etiological distribution. Discussion. – In our study, chronic renal failure was not a major cause of high ferritin level: this is probably due to the current use of erythropoietin, which has decreased the use of blood transfusions. The two major aetiology of hyperferritinemia were non-HIV infections and malignancies. [Copyright &y& Elsevier]

Abstract: Adult onset Still''s disease is an inflammatory disorder characterized by daily spiking high fevers, arthritis and an evanescent rash. It is a rare disease of unknown aetiology and can be life-threatening. We present a case of adult onset Still''s disease associated with myocarditis requiring the use of invasive ventilation, in which the patient responded well to systemic steroids. [Copyright &y& Elsevier]

Introduction: Gaucher disease type 1 is a rare genetic disease. It can cause thrombocytopenia. Current guidelines do not support bone marrow examination in front of isolated thrombocytopenia if no evidence suggests malignant hemopathy. This strategy aiming at sparing unnecessary investigations makes such rare diseases more difficult to diagnose., Case Report: A 31-year-old woman was diagnosed with immune thrombocytopenia according to current guidelines. She presented later with mild splenomegaly. Bone marrow aspirate smears showed Gaucher cells. Gaucher disease was then confirmed. Looking backward, initial biological clues (hyperferritinemia, hypergammaglobulinemia) should have enabled to consider the diagnosis., Conclusion: Gaucher disease type 1 can be responsible for apparently isolated thrombocytopenia. The disease must be looked for if the thrombocytopenia is associated with unexplained hypergammaglobulinemia or hyperferritinemia. Diagnosing immune thrombocytopenia without bone marrow sample requires to systematically pay attention to any clinical or biological abnormality, not to ignore rare differential diagnoses., (Copyright © 2019 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)