RESUMO
INTRODUCTION: Copper is increasingly being recognized as a vital mineral required by both animals and humans. It plays a vital role in many metabolic processes such as cellular respiration, iron oxidation, and hemoglobin synthesis. Copper deficiency, which can be hereditary or acquired, can lead to a wide spectrum of disease processes such as ringed sideroblastic anemia, myelodysplasia, and pancytopenia. Timely identification and management of copper deficiency is necessary to prevent irreversible complications. AREAS COVERED: Our study focuses on prevalence, etiology, pathophysiology, complications, and treatment of copper deficiency. EXPERT OPINION: Copper deficiency is frequently underrecognized as the cause of anemia, neutropenia, and bone marrow dysplasia. As it is potentially treatable, it should always be kept in the differentials when patients present with neurological and hematological abnormalities.
Assuntos
Anemia , Doenças Hematológicas , Síndromes Mielodisplásicas , Neutropenia , Pancitopenia , Animais , Humanos , Pancitopenia/diagnóstico , Pancitopenia/etiologia , Cobre/metabolismo , Anemia/etiologia , Doenças Hematológicas/complicações , Neutropenia/etiologia , Neutropenia/complicações , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnósticoRESUMO
Haemophagocytic lymphohistiocytosis (HLH) is one of the rare haematological syndromes more commonly reported in infants/children than adults. This disease is known for its aggressive dysregulated immune response affecting the host rapidly, causing multiorgan dysfunction and thus carries a high mortality. The disease still remains cryptic in this current decade despite all the developments in the ever-evolving field of haematology. Due to its rare occurrence and being more frequent in infants and the paediatric population, the literature lacks enough data to standardise therapies. Such events in adults and the elderly are invariably related to an underlying insult such as infections, other autoimmune or rheumatological diseases or drugs. We describe an interesting case of a middle-aged Caucasian woman who presented with fever, pancytopenia and hepatitis, who was eventually diagnosed with HLH just in time to receive the life-saving specific treatment as per available guidelines.