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BACKGROUND: Some conventional vaccines have been recognized as a cause of secondary immune thrombocytopenia (ITP). According to recent publications, mRNA vaccines are probably associated with an increased risk of ITP. CASE PRESENTATION: Our patient developed severe ITP one week after the second dose of COVID-19 mRNA vaccine. Medical management was not effective, requiring splenectomy to obtain sustained remission. CONCLUSION: Considering the temporality and immunological hypothesis, we consider the vaccine to be the trigger of this ITP. To our knowledge, our case is, to date, the most severe case of ITP reported following SARS-CoV-2 vaccination and could help for the therapeutic management of similar patients.
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Anemia is a major public health problem that affects approximately 25% of the world's population. Its prevalence is increased in certain populations: it affects 40% of pregnant women, 42% of children under 5 years old and it increases with age from 50 years old. Anemia can be an emergency in case of hemorrhage or acute hemolysis, but it is most often chronic. Anemia can be constitutional or acquired. In the second case, iron or vitamin deficiencies are the most frequent causes. Anemia can also be a diagnostic pointing to hypothyroidism, inflammatory disease, or cancer. In this article, we provide an update on diagnostic and management strategies for anemia and discuss new scientific developments.
Véritable problème de santé publique, l'anémie touche environ 25% de la population mondiale. Sa prévalence est accrue dans certains groupes: elle concerne 40% des femmes enceintes, 42% des enfants de moins de 5 ans et augmente avec l'âge dès 50 ans. L'anémie peut être une urgence en cas d'hémorragie ou d'hémolyse aiguë mais elle est le plus souvent chronique. Les anémies peuvent être constitutionnelles ou acquises. Dans le 2e cas, les carences martiales ou vitaminiques sont les causes les plus fréquentes. L'anémie peut aussi être un diagnostic orientant vers une hypothyroïdie, une maladie inflammatoire ou un cancer. Dans cet article, nous abordons les nouveautés scientifiques relatives à l'anémie et faisons le point sur les stratégies pour la diagnostiquer et la prendre en charge.
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Anemia Ferropriva , Anemia , Anemia/diagnóstico , Anemia/etiologia , Anemia/terapia , Anemia Ferropriva/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Ferro , Pessoa de Meia-Idade , Gravidez , PrevalênciaRESUMO
VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia.
Le syndrome VEXAS (Vacuoles, E1 Enzyme, X-Linked, Auto- Inflammatory, Somatic Syndrome) a été récemment découvert chez des patients développant tardivement à l'âge adulte un syndrome inflammatoire associé à de la fièvre, des cytopénies, une moelle osseuse dysplasique, une inflammation neutrophilique cutanée et pulmonaire, des arthrites, des chondrites ou des vasculites. Il est le résultat d'une mutation somatique inactivatrice affectant le codon méthionine 41 du gène UBA1 qui encode une enzyme E1 activant l'ubiquitine. Les corticostéroïdes systémiques permettent généralement de diminuer les symptômes alors que les autres immunosuppresseurs ont un effet limité à long terme. L'azacitidine est l'un des traitements ayant démontré une efficacité, cependant de nouvelles études sont souhaitables. Nous décrivons ici 2 cas dont l'un est associé à un pyoderma gangrenosum et une cryoglobulinémie.
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Síndromes Mielodisplásicas , Dermatopatias Genéticas , Vasculite , Adulto , Humanos , Inflamação , Mutação , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/genética , Pioderma Gangrenoso , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/tratamento farmacológico , Dermatopatias Genéticas/genética , Enzimas Ativadoras de Ubiquitina/genéticaRESUMO
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited genetic disorder caused by red cell enzymatic defects and is associated with haemolytic crisis when patients are exposed to oxidative agents (fava beans, drugs, infections). Hydroxychloroquine is suspected to trigger haemolytic crisis in G6PD-deficient patients, and off-label administration of this drug to patients infected with the novel coronavirus (SARS-CoV-2) could cause concern. We report here the first case of severe haemolytic crisis in a patient with G6PD deficiency, initiated by severe COVID-19 infection and hydroxychloroquine use. With worldwide spread of COVID-19, especially in regions with a high prevalence of G6PD deficiency, our case should alert physicians to this possible correlation.
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Betacoronavirus , Infecções por Coronavirus/tratamento farmacológico , Deficiência de Glucosefosfato Desidrogenase/complicações , Hemólise/efeitos dos fármacos , Hidroxicloroquina/efeitos adversos , Pneumonia Viral/tratamento farmacológico , Idoso , COVID-19 , Comorbidade , Infecções por Coronavirus/complicações , Infecções por Coronavirus/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Hidroxicloroquina/uso terapêutico , Masculino , Pandemias , Pneumonia Viral/epidemiologia , SARS-CoV-2 , Tratamento Farmacológico da COVID-19RESUMO
BACKGROUND: Biological diagnosis of hemoglobin disorders is a complex process relying on the combination of several analytical techniques to identify Hb variants in a particular sample. Currently, hematology laboratories usually use high-performance liquid chromatography (HPLC), capillary electrophoresis and gel-based methods to characterize Hb variants. Co-elution and co-migration may represent major issues for precise identification of Hb variants, even for the most common ones such as Hb S and C. METHODS: We adapted a top-down selected reaction monitoring (SRM) electron transfer dissociation (ETD) mass spectrometry (MS) method to fit with a clinical laboratory environment. An automated analytical process with semi-automated data analysis compatible with a clinical practice was developed. A comparative study between a reference HPLC method and the MS assay was performed on 152 patient samples. RESULTS: The developed workflow allowed to identify with high specificity and selectivity the most common Hb variants (Hb S and Hb C). Concordance of the MS-based approach with HPLC was 71/71 (100%) for Hb S and 11/11 (100%) for Hb C. CONCLUSIONS: This top-down SRM ETD method can be used in a clinical environment to detect Hb S and Hb C.
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Multiple myeloma (MM) is the third most common hematological cancer. MM is a proliferation of plasma cells Its incidence increases from 1 per 100 000 at 40 years to 40 per 100â 000 at 80 years. Today, there are many treatment strategies for MM that go from simple care to self-transplantation. Choosing the most appropriate treatment can be challenging in geriatric patients. This population is heterogeneous and therapeutic decisions shouldn't be based on an age limit. Therefore, geriatric assessment is essential to help the clinician choose the best therapeutic strategy and assess the patient's specific needs.
Le myélome multiple (MM) est le troisième cancer hématologique le plus fréquent. Le MM est une prolifération de plasmocytes. Son incidence passe de moins de 1 pour 100 000 à 40 ans, à 40 pour 100â 000 à 80 ans. Aujourd'hui, il existe de nombreuses lignes de traitement pour le MM, qui vont de simples soins d'accompagnement à l'autogreffe. La décision quant à la meilleure thérapie peut s'avérer délicate au sein de la population gériatrique. En effet, cette population est hétérogène et il est risqué de baser la décision thérapeutique sur une limite d'âge. L'évaluation gériatrique est donc fondamentale, car elle permet de catégoriser le patient afin d'aider le clinicien à choisir la meilleure stratégie thérapeutique et d'évaluer les besoins spécifiques du patient.
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Avaliação Geriátrica , Mieloma Múltiplo/terapia , Idoso , Idoso de 80 Anos ou mais , Tomada de Decisão Clínica , HumanosRESUMO
The acute chest syndrome is a frequent complication in patients with sickle cell disease. It results from the occlusion of pulmonary capillaries and complex pathophysiological mechanisms. The diagnosis of an acute chest syndrome includes bilateral infiltrates on x-ray, along with fever or respiratory symptoms. The appropriate medical treatment includes hydration, analgesics, oxygen, broad-spectrum antibiotics that cover atypical bacteria and transfusions or exchange transfusion.
Le syndrome thoracique aigu est une complication grave et la première cause de mortalité de la drépanocytose. Elle résulte d'une occlusion des capillaires pulmonaires, suivie de phénomènes physiopathologiques complexes. Le diagnostic est posé en présence d'un infiltrat pulmonaire bilatéral radiologique, accompagné de symptômes cliniques tels qu'un état fébrile ou des symptômes respiratoires. Les traitements comprennent une hydratation, une oxygénothérapie, une antalgie, une antibiothérapie à large spectre incluant une couverture des germes atypiques et des thérapies transfusionnelles en cas d'évolution non favorable (transfusions ou échanges transfusionnels).
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Síndrome Torácica Aguda , Anemia Falciforme , Síndrome Torácica Aguda/etiologia , Doença Aguda , Anemia Falciforme/complicações , Transfusão de Sangue , Febre/etiologia , Humanos , Pulmão/irrigação sanguíneaRESUMO
The reactive hemophagocytic syndrome comes from an overstimulation of the immune system which causes a cytokine storm. This is a life-threatening condition caracterised by a febrile cytopenia, hepatosplenomegaly and multi-organ failure. The diagnosis is not easy and the HScore can be useful, looking at hyperferritinemia, hypertriglyceridemia, and hypofibrinogenemia. The evidence of hemophagocytosis in the bone marrow is not necessary nor sufficient to make the diagnosis but is part of the workup. The underlying cause has to be actively sought, typically an infectious, malignant or autoimmune disorder. This syndrome should be supported in conjunction with the hematologist, and initiation of a treatment is a medical emergency.
Le syndrome hémophagocytaire réactionnel est la conséquence d'une activation incontrôlée du système immunitaire, responsable d'une tempête cytokinique. La présentation clinique est celle d'une cytopénie fébrile avec hépato-splénomégalie et atteinte multiviscérale pouvant rapidement engager le pronostic vital. Le diagnostic est difficile et peut être facilité par le HScore, comprenant la recherche d'une hyperferritinémie, d'une hypertriglycéridémie et d'une hypofibrinogénémie. La mise en évidence d'hémophagocytose médullaire n'est ni nécessaire ni suffisante pour poser le diagnostic mais peut le conforter. L'étiologie sous-jacente, généralement infectieuse, néoplasique et/ou auto-immune est à rechercher. Ce syndrome doit être pris en charge conjointement avec l'hématologue, et l'initiation d'un traitement est une urgence médicale.
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Linfo-Histiocitose Hemofagocítica , Trombocitopenia , Doenças Transmissíveis , Febre , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Síndrome , Trombocitopenia/etiologiaRESUMO
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis. The prevalence of this rare disease is 1/5,000 to 1/10,000 and its expression varies widely, even in the same family. The management must be multidisciplinary and based on prevention and treatment of bleeding complications as well as screening and treatment of arteriovenous malformations.
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Malformações Arteriovenosas/terapia , Hemorragia/terapia , Telangiectasia Hemorrágica Hereditária/terapia , Malformações Arteriovenosas/etiologia , Hemorragia/etiologia , Humanos , Comunicação Interdisciplinar , Prevalência , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/fisiopatologiaRESUMO
Hemoglobin disorder diagnosis is a complex procedure combining several analytical steps. Due to the lack of specificity of the currently used protein analysis methods, the identification of uncommon hemoglobin variants (proteoforms) can become a hard task to accomplish. The aim of this work was to develop a mass spectrometry-based approach to quickly identify mutated protein sequences within globin chain variants. To reach this goal, a top-down electron transfer dissociation mass spectrometry method was developed for hemoglobin ß chain analysis. A diagnostic product ion list was established with a color code strategy allowing to quickly and specifically localize a mutation in the hemoglobin ß chain sequence. The method was applied to the analysis of rare hemoglobin ß chain variants and an (A)γ-ß fusion protein. The results showed that the developed data analysis process allows fast and reliable interpretation of top-down electron transfer dissociation mass spectra by nonexpert users in the clinical area.
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Hemoglobinas/análise , Espectrometria de Massas/métodos , Sequência de Aminoácidos , Hemoglobina Fetal/análise , Hemoglobina Fetal/genética , Fusão Gênica , Variação Genética , Hemoglobinas/genética , Hemoglobinas Anormais/análise , Hemoglobinas Anormais/genética , Humanos , Dados de Sequência Molecular , Mutação , Espectrometria de Massas em Tandem/métodos , Fluxo de Trabalho , Globinas beta/análise , Globinas beta/genéticaAssuntos
Neoplasias das Glândulas Suprarrenais , Glândulas Suprarrenais , Antirretrovirais/administração & dosagem , Soropositividade para HIV/tratamento farmacológico , Linfoma de Efusão Primária , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/patologia , Glândulas Suprarrenais/diagnóstico por imagem , Glândulas Suprarrenais/patologia , Adulto , Antirretrovirais/efeitos adversos , Humanos , Linfoma de Efusão Primária/diagnóstico por imagem , Linfoma de Efusão Primária/patologia , MasculinoRESUMO
BACKGROUND: Tumor lysis syndrome (TLS) is a potentially life-threatening condition resulting from the rapid destruction of malignant cells, leading to electrolyte imbalances and severe complications, such as acute kidney injury, arrhythmias, and seizures. TLS can be managed through hyperhydration, urate-lowering treatments, and a steroid prophase strategy. AIMS: This study aims to explore the impact of fractionated rituximab, an anti-CD20 antibody, on the occurrence and severity of TLS during the initial cycle in patients with aggressive B-cell non-Hodgkin lymphoma (B-NHL). METHODS: Data was retrospectively collected from 94 of 186 patients. RESULTS: Among the 94 patients included in the analysis, the median age was 70. Histologies were diffuse large B-cell lymphoma (75%), Burkitt lymphoma (13%) and high-grade B-cell lymphoma (8%). The majority were at an advanced stage (93%) with a high IPI score (75%). Most patients received anthracycline-containing regimens (72%) and prophylactic allopurinol (83%) and/or rasburicase (26%). Steroid prophase was administered to 82% of patients. The study identified one clinical TLS case and six laboratory TLS cases. Significant TLS factors included BL histology, elevated baseline LDH (⟩500 U/l), and rasburicase usage. Infusion reactions were rare (3%). Median progression-free survival was 2.6 years, and 2-year overall survival was 33%, irrespective of TLS occurrence. CONCLUSION: In this real-life study, clinical TLS occurrence was low (1%). TLS appeared more frequent in BL but did not impact overall survival. Fractionated initial rituximab dosing in addition to preventive strategies is a feasible approach in preventing clinical TLS, warranting further prospective investigation.
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Rituximab , Síndrome de Lise Tumoral , Humanos , Síndrome de Lise Tumoral/etiologia , Síndrome de Lise Tumoral/prevenção & controle , Rituximab/administração & dosagem , Rituximab/efeitos adversos , Rituximab/uso terapêutico , Masculino , Feminino , Idoso , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Adulto , Antineoplásicos Imunológicos/efeitos adversos , Antineoplásicos Imunológicos/uso terapêutico , Antineoplásicos Imunológicos/administração & dosagem , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/mortalidade , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/patologia , Linfoma de Células B/mortalidadeRESUMO
Langerhans cell histiocytosis (LCH) may present as unifocal disease of the suprasellar region, with symptoms and signs of hypopituitarism, arginine vasopressin deficiency (AVP-D), and weight gain. Transcranial biopsy is necessary to define diagnosis and guide treatment decisions, but it is associated with significant morbidity. We describe a patient with Hashimoto thyroiditis and a single hypothalamic mass in whom LCH diagnosis was made by thyroid fine-needle aspiration cytology (FNAC) performed despite nonspecific findings in thyroid imaging, on the basis of a slightly elevated [18F]-fluorodeoxyglucose (FDG) avidity on PET/CT and volume increase during follow-up.
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Histiocitose de Células de Langerhans , Glândula Tireoide , Humanos , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/diagnóstico por imagem , Biópsia por Agulha Fina , Glândula Tireoide/patologia , Glândula Tireoide/diagnóstico por imagem , Feminino , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/patologia , Fluordesoxiglucose F18 , Adulto , Masculino , CitologiaRESUMO
Precise and accurate quantification of proteins is essential in clinical laboratories. Here, we present a mass spectrometry (MS)-based method for the quantification of intact proteins in an ion trap mass spectrometer. The developed method is based on the isolation and detection of precursor ions for the quantification of the corresponding signals. The method was applied for the quantification of hemoglobin (Hb) A2, a marker used for the diagnosis of a ß-thalassemia trait. The α and δ globin chains, corresponding to total Hb and HbA2, respectively, were isolated in the ion trap at specific charge states and ejected without activation. Areas of the corresponding isolated precursor ions were used to calculate the δ to α ratio. Three series of quantifications were performed on 7 different days. The standard curve fitted linearly (R(2) = 0.9982) and allowed quantification of HbA2 over a concentration range from 3% to 18% of total Hb. Analytical imprecision ranged from 3.5% to 5.3%, which is enough to determine if the HbA2 level is below 3.5% or above 3.7%. In conclusion, our method reaches precision requirements that would be acceptable for the quantitative measurement of diagnostic proteins, such as HbA2, in clinical laboratories.
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Biomarcadores/análise , Hemoglobina A2/análise , Espectrometria de Massas/métodos , Humanos , Talassemia beta/diagnósticoRESUMO
AIMS OF THE STUDY: Thrombopoietin receptor agonists (TPO-RAs) are approved for immune thrombocytopenia (ITP), but their impact on health-related quality of life (HRQoL) remains poorly investigated in clinical practice. This observational study aimed to gain insight into real-world patient-reported experiences of the burden of ITP and TPO-RAs. METHOD: An online questionnaire of closed questions was used to collect views of patients with primary ITP from Switzerland, Austria, and Belgium, between September 2018 and April 2020. RESULTS: Of 46 patients who completed the questionnaire (total cohort), 41% were receiving TPO-RAs. A numerically higher proportion of patients reported being free from symptoms at the time of the questionnaire (54%) than at diagnosis (24%), irrespective of treatment type. Bleeding, the most frequently reported symptom at diagnosis (59%), was reduced at the time of the questionnaire (7%). Conversely, fatigue was reported by approximately 40% of patients at both diagnosis and the time of the questionnaire. Having a normal life and their disease under control was reported by 83% and 76%, respectively, but 41% were worried/anxious about their condition. Nearly 50% reported that ITP impaired their engagement in hobbies/sport or energy levels and 63% reported no impact on employment. When stratified by TPO-RA use, bleeding was better controlled in those receiving TPO-RAs than not (0% vs 11%). A numerically lower proportion receiving TPO-RAs than not reported worry/anxiety about their condition (16% vs 59%) and shifting from full-time to part-time employment (11% vs 22%). Similar proportions were satisfied with their therapy whether they were receiving TPO-RAs or not (89% vs 85%). CONCLUSIONS: Many factors affect HRQoL in patients with ITP. Of patients receiving TPO-RAs, none experienced bleeding at the time of the questionnaire; they also showed a more positive perspective for some outcomes than those not using TPO-RAs. However, fatigue was not reduced by any treatment.
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Púrpura Trombocitopênica Idiopática , Trombocitopenia , Áustria , Bélgica , Humanos , Medidas de Resultados Relatados pelo Paciente , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Qualidade de Vida , Receptores Fc/uso terapêutico , Receptores de Trombopoetina/agonistas , Proteínas Recombinantes de Fusão/uso terapêutico , Inquéritos e Questionários , Suíça , Trombocitopenia/tratamento farmacológico , Trombopoetina/uso terapêuticoRESUMO
Thrombocytopenia defined as a platelet count < 150 G/l is found in about 10% of pregnancies. The differential diagnosis is similar to that of non-pregnant women but some specific causes related to pregnancy need to be considered. Even if the so-called gestational thrombocytopenia is the most common etiology, a careful history and simple laboratory tests are needed in order not to miss a serious condition that may require specific and sometimes urgent treatment. However in most cases detailed investigations are not required during pregnancy and a pragmatic attitude can be proposed, including monitoring of platelet count in the mother and platelet count in the newborn.
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Complicações Hematológicas na Gravidez/diagnóstico , Complicações Hematológicas na Gravidez/terapia , Trombocitopenia/diagnóstico , Trombocitopenia/terapia , Algoritmos , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Contagem de Plaquetas , Gravidez , Complicações Hematológicas na Gravidez/etiologia , Trombocitopenia/etiologia , Resultado do TratamentoRESUMO
The diagnosis of pure iron-deficient anemia or anemia of chronic disease is easy. However, in mixed situations, conventional laboratory tests for iron status are influenced by the inflammatory response and their diagnostic accuracy may be undermined. New tests are available but grey zones and diagnostic uncertainties sometimes remain. The objective of this article is to give an overview of the current diagnostic tools for the evaluation of the iron metabolism and to provide a practical diagnostic algorithm for the evaluation of iron-deficient anemia.
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Anemia Ferropriva/diagnóstico , Algoritmos , Humanos , Ferro/metabolismoRESUMO
BACKGROUND: Anemia is a recognized risk factor for perioperative related morbidity and mortality and is frequently reported in liver surgeries with an estimated incidence of 32%. We aim to assess the impact of intravenous iron administration in the immediate postoperative period on anemia and iron status as well as to determine the kinetics of hepcidin after liver surgery. METHODS: The HepciFer trial, a randomized controlled trial, included 50 patients undergoing liver surgery. In accordance with the randomization process, patients received either ferric carboxymaltose (15 mg/kg, maximum 1 g) or placebo 4 hours after surgery. RESULTS: The mean hemoglobin level, 7 days after surgery, did not differ significantly between the intervention and control group (11.1 ± 1.8 g/dL and 10.4 ± 1.6 g/dL, respectively) with a mean difference of +0.7 g/dL ([95% confidence interval, -0.3 to +1.7], P = .173). Within patients receiving intravenous iron supplementation, none presented biological signs of functional iron deficiency. Hepcidin levels remained significantly higher during the observation period in the intervention group. Inflammatory biomarkers, red blood cells transfusion rate and hospital duration of stay were similar between groups. CONCLUSION: Intravenous ferric carboxymaltose administration did not result in a significant increase of hemoglobin levels 7 days after surgery. However, this study suggests that intravenous iron supplementation in the immediate postoperative settings prevents functional iron deficiency. Intravenous iron supplementation overcame the hepcidin-mediated blockade of iron absorption and should be considered as the preferred route of administration in the postoperative period.