RESUMEN
Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed. Vitamin B12 deficiency is the most common cause for megaloblastic anemia, although folate deficiency also can contribute. Nonmegaloblastic anemia entails normal DNA synthesis and typically is caused by chronic liver dysfunction, hypothyroidism, alcohol use disorder, or myelodysplastic disorders. Macrocytosis also can result from release of reticulocytes in the normal physiologic response to acute anemia. Management of macrocytic anemia is specific to the etiology identified through testing and patient evaluation.
Asunto(s)
Alcoholismo , Anemia Macrocítica , Anemia Megaloblástica , Anemia , Humanos , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/terapia , Anemia/etiología , Anemia/terapia , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapia , ADNRESUMEN
In the era of evidence-based medicine, the randomized clinical trial corresponds to the top step in the qualitative scale of the evidence available in the literature, while small series of cases or the description of individual cases occupy the last place. However, the latter represent an important part of clinical practice and have significantly influenced the evolution of medicine, contributing significantly to the advancement of scientific knowledge. Vitamin B12 deficiency shares several common symptoms that affect several tissues and organs with health aliments, so its diagnosis could be unobvious for the broad array of its effects and investigation methods used. In this review, we focused our attention on some case reports related to the vitamin B12 deficiency associated to anemia, neurologic disorders, and hyperhomocysteinemia. B12 deficiency reversal is simply achieved by prompt therapy, even though it is not the same for several disorders.
Asunto(s)
Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/diagnóstico , Adulto , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiología , Anemia Megaloblástica/terapia , Manejo de la Enfermedad , Susceptibilidad a Enfermedades , Humanos , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/terapia , Evaluación de Resultado en la Atención de Salud , Trombosis/diagnóstico , Trombosis/etiología , Trombosis/terapia , Deficiencia de Vitamina B 12/terapiaRESUMEN
Cada vez más los pacientes diagnosticados con anemia son referidos al gastroenterólogo para su evaluación. La necesidad de realizar un adecuado planteo clínico y una correcta interpretación de las pruebas de diagnóstico ha motivado la revisión de este tema. Varios trastornos gastroenterológicos, con frecuencia, conducen a anemia como resultado de pérdidas sanguíneas, inflamación, malabsorción o a consecuencia de las terapias farmacológicas. En algunas patologías como la cirrosis, EII o neoplasias las causas son a menudo multifactoriales. Esta revisión, pretende proporcionar un enfoque útil para la práctica clínica. Para ello se ha revisado la información actualizada acerca de la patogénesis, diagnóstico y tratamiento de la anemia vinculada a patologías digestivas y se han confeccionados cuadros y algoritmos para facilitar su comprensión.
More and more patients diagnosed with anemia are referred to the gastroenterologist for evaluation. The need to carry out an adequate clinical approach and a correct interpretation of diagnostic tests has motivated this review. Several digestive diseases frequently lead to anemia because of blood loss, inflammation, malabsorption, or drug therapies. In some of them such as cirrhosis, IBD or neoplasms, the etiology is multifactorial. This review is intended to provide a useful approach to clinical practice. To this aim, updated information on the pathogenesis, diagnosis, and treatment of anemia related to digestive diseases has been reviewed, and tables and algorithms have been built to favor its understanding.
Cada vez mais pacientes diagnosticados com anemia são encaminhados ao gastroenterologista para avaliação. A necessidade de realizar uma abordagem clínica adequada e uma interpretação correta dos testes de diagnóstico motivou a revisão deste tema. Vários distúrbios gastroenterológicos freqüentemente levam à anemia como resultado de perda de sangue, inflamação, má absorção ou pelas próprias terapias farmacológicas. Em algumas patologias como cirrose, DII ou neoplasias, as causas costumam ser multifatoriais. Esta revisão visa fornecer uma abordagem útil à prática clínica. Para esse fim, foram revisadas informações atualizadas sobre a patogênese, o diagnóstico e o tratamento da anemia associada à patologia digestiva e foram elaboradas tabelas e algoritmos para facilitar seu entendimento.
Asunto(s)
Humanos , Anemia Ferropénica/etiología , Enfermedades Gastrointestinales/complicaciones , Anemia Megaloblástica/etiología , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/terapia , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapiaAsunto(s)
Anemia Megaloblástica , Células Sanguíneas , Transfusión Sanguínea , Homocigoto , Síndromes de Malabsorción , Proteínas de la Membrana , Mutación , Proteinuria , Deficiencia de Vitamina B 12 , Vitamina B 12/administración & dosificación , Anemia Megaloblástica/sangre , Anemia Megaloblástica/genética , Anemia Megaloblástica/patología , Anemia Megaloblástica/terapia , Células Sanguíneas/metabolismo , Células Sanguíneas/patología , Preescolar , Femenino , Hemoglobinas/metabolismo , Humanos , Síndromes de Malabsorción/sangre , Síndromes de Malabsorción/genética , Síndromes de Malabsorción/patología , Síndromes de Malabsorción/terapia , Proteínas de la Membrana/genética , Proteinuria/sangre , Proteinuria/genética , Proteinuria/patología , Proteinuria/terapia , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/genética , Deficiencia de Vitamina B 12/patología , Deficiencia de Vitamina B 12/terapiaRESUMEN
Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.
Asunto(s)
Anemia Megaloblástica , Médula Ósea/patología , Deficiencia de Ácido Fólico , Ácido Fólico , Deficiencia de Vitamina B 12 , Vitamina B 12 , Anemia Megaloblástica/sangre , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiología , Anemia Megaloblástica/terapia , Diagnóstico Diferencial , Diagnóstico Precoz , Intervención Médica Temprana/métodos , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/etiología , Ácido Fólico/administración & dosificación , Ácido Fólico/sangre , Deficiencia de Ácido Fólico/complicaciones , Deficiencia de Ácido Fólico/diagnóstico , Humanos , Lactante , Masculino , Pancitopenia/diagnóstico , Pancitopenia/etiología , Atención Prenatal/normas , Resultado del Tratamiento , Vitamina B 12/administración & dosificación , Vitamina B 12/sangre , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/diagnóstico , Vitaminas/administración & dosificaciónRESUMEN
BACKGROUND: Vitamin B12 (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation. The clinical manifestation of vitamin B12 deficiency include neurological disorders, megaloblastic anemia and failure to thrive. Routine and commonly used laboratory tests such as cell blood count (CBC) or serum vitamin B12 level are sufficient for appropriate diagnosis. Typical therapy is based on intramuscular cobalamin injections. Early diagnosis and early onset of treatment are crucial factors for long-term prognosis of patients as the duration of deficiency may be correlated with the development of long lasting changes in the nervous system. The purpose of this article is to present influence of maternal vitamin B12 deficiency as a cause of infant psychomotor retardation. CASE PRESENTATION: We report the case of a 7 months old girl whose parents sought medical advice due to pathological somnolence and developmental regression of their daughter with onset approximately 2 months prior to the visit. Following several diagnostic tests it was determined that the infant's symptoms were due to vitamin B12 deficiency which was secondary to the mother's latent Addison-Biermer disease. Apart from neurological symptoms the infant also showed megaloblastic anemia which is typical to cobalamin deficiencies. Intramuscular vitamin B12 supplementation resulted in instant improvement of the patient's general condition and blood morphology. Unfortunately, psychological examination indicated long-term psychomotor retardation due to delayed diagnosis of B12 deficiency. CONCLUSIONS: Vitamin B12 levels should be considered during differential diagnosis of neurological symptoms in exclusively breast-fed infants especially if they co-exist with megaloblastic anemia and psychomotor retardation.
Asunto(s)
Lactancia Materna , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/etiología , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/psicología , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiología , Anemia Megaloblástica/terapia , Femenino , Humanos , Lactante , Trastornos Psicomotores/terapiaAsunto(s)
Anemia Megaloblástica/etiología , Deficiencia de Vitamina B 12/complicaciones , Administración Oral , Adulto , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/tratamiento farmacológico , Anemia Megaloblástica/terapia , Femenino , Humanos , India , Vitamina B 12/administración & dosificación , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/terapiaRESUMEN
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.
Asunto(s)
Anemia Megaloblástica/diagnóstico , Diabetes Mellitus/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Proteínas de Transporte de Membrana/genética , Deficiencia de Tiamina/congénito , Tiamina/uso terapéutico , Anemia Megaloblástica/fisiopatología , Anemia Megaloblástica/terapia , Diabetes Mellitus/fisiopatología , Diabetes Mellitus/terapia , Diagnóstico Diferencial , Suplementos Dietéticos , Pérdida Auditiva Sensorineural/fisiopatología , Pérdida Auditiva Sensorineural/terapia , Humanos , Mutación , Deficiencia de Tiamina/diagnóstico , Deficiencia de Tiamina/fisiopatología , Deficiencia de Tiamina/terapiaRESUMEN
We report a case of a 17-year-old female patient who presented with sudden, painless, nonprogressive diminished vision in both eyes (best corrected visual acuity in right eye - 6/60 and left eye - 6/36). An ophthalmological evaluation revealed bilateral pale tarsal conjunctiva and bilateral macular hemorrhage. Hematological evaluation revealed the presence of megalocytic anemia (with hemoglobin - 4.9 g%). General examination showed severe pallor. On systemic examination, no abnormality was detected, confirmed by ultrasonography abdomen. Other causes of severe anemia have been ruled out. Intraocular pressure in both eyes was 12 mmHg. This case documents the rare occurrence of bilateral subinternal limiting membrane macular hemorrhage with megaloblastic anemia without thrombocytopenia and other retinal features of anemic retinopathy.
Asunto(s)
Anemia Megaloblástica/complicaciones , Hemorragia Retiniana/etiología , Adolescente , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapia , Transfusión Sanguínea , Terapia Combinada , Femenino , Ácido Fólico/uso terapéutico , Humanos , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/terapia , Trastornos de la Visión/tratamiento farmacológico , Trastornos de la Visión/etiología , Agudeza Visual/efectos de los fármacos , Vitamina B 12/uso terapéuticoRESUMEN
OBJECTIVES: India has the highest prevalence of severe acute malnutrition (SAM). Severe anemia is one of the comorbidities responsible for increased mortality in severely malnourished children, yet it has not received the attention it should. The aim of the present study was to determine the prevalence and type of anemia and to evaluate the possible etiologies for severe anemia, in these children. METHODS: A cross-sectional study of patients with SAM in a tertiary care hospital in northern India over a period of 12 mo from Sept. 1, 2010 to Aug. 31, 2011 was conducted. We observed the prevalence of severe anemia (hemoglobin < 7 g/dL), morphologic type of anemia, number of patients requiring blood transfusion, hematologic profile of mothers, nature of feeding, duration of exclusive breastfeeding, and the demographic profile of these patients. RESULTS: Included in the study were 131 cases of SAM. The age group varied between 6 and to 59 mo. Of patients with SAM, 67.3% had severe anemia; 13.8% had moderate anemia. Of these patients, 25% required packed red blood cell transfusion. The most common type of anemia was microcytic (38.6%) followed by megaloblastic (30.5%). CONCLUSIONS: A high incidence of severe anemia in SAM with a large proportion (25%) requiring blood transfusion is a pointer toward nutritional anemia being a very common comorbidity of SAM requiring hospital admission. Because megaloblastic anemia closely followed microcytic anemia, supplementation with vitamin B12 in addition to iron and folic acid would be recommended.
Asunto(s)
Anemia/complicaciones , Trastornos de la Nutrición del Niño/complicaciones , Hemoglobinas/metabolismo , Desnutrición Proteico-Calórica/complicaciones , Anemia/sangre , Anemia/epidemiología , Anemia/terapia , Anemia Megaloblástica/complicaciones , Anemia Megaloblástica/epidemiología , Anemia Megaloblástica/terapia , Transfusión Sanguínea , Trastornos de la Nutrición del Niño/sangre , Trastornos de la Nutrición del Niño/epidemiología , Preescolar , Estudios Transversales , Humanos , Incidencia , India/epidemiología , Lactante , Masculino , Desnutrición Proteico-Calórica/sangre , Índice de Severidad de la EnfermedadRESUMEN
Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome - a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful in establishing a prompt diagnosis and initiating optimal management in children and adolescents with the disease.
Asunto(s)
Anemia Megaloblástica/diagnóstico , Diabetes Mellitus Tipo 1/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Adolescente , Anemia Megaloblástica/terapia , Niño , Diabetes Mellitus Tipo 1/terapia , Diagnóstico Precoz , Pérdida Auditiva Sensorineural/terapia , Humanos , Lactante , Recién Nacido , SíndromeRESUMEN
Anemia is a common complication in malarial infection. Direct destruction and ineffective erythropoesis does not adequately explain the cause of anemia in malaria. We present a case with refractory megaloblastic anemia with asymptomatic falciparum malaria. We hypothesize that promoter variants in the inducible nitric oxide synthase gene might be the cause of severe refractory megaloblastic anemia and pancytopenia in our patient. Malaria should always be kept in mind as a cause of anemia especially in endemic areas even if the child is asymptomatic or there is no demonstrable parasite on routine smear examination.
Asunto(s)
Anemia Megaloblástica/parasitología , Malaria Falciparum/complicaciones , Pancitopenia/parasitología , Plasmodium falciparum , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/genética , Anemia Megaloblástica/terapia , Antimaláricos/uso terapéutico , Artemisininas/uso terapéutico , Artesunato , Niño , Quimioterapia Combinada , Transfusión de Eritrocitos , Resultado Fatal , Ácido Fólico/uso terapéutico , Humanos , Malaria Falciparum/diagnóstico , Malaria Falciparum/terapia , Masculino , Óxido Nítrico Sintasa de Tipo II/genética , Pancitopenia/diagnóstico , Pancitopenia/genética , Pancitopenia/terapia , Plasmodium falciparum/aislamiento & purificación , Transfusión de Plaquetas , Vitamina B 12/uso terapéutico , Complejo Vitamínico B/uso terapéuticoRESUMEN
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.
Asunto(s)
Trombocitopenia/complicaciones , Anemia Megaloblástica/complicaciones , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/patología , Anemia Megaloblástica/terapia , Transfusión de Componentes Sanguíneos , Médula Ósea/patología , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/patología , Diabetes Mellitus/terapia , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/patología , Pérdida Auditiva Sensorineural/terapia , Humanos , Lactante , Complejo Cetoglutarato Deshidrogenasa/deficiencia , Masculino , Tiamina/uso terapéutico , Deficiencia de Tiamina/congénitoRESUMEN
Megaloblastic anemia (MA), in most instances in developing countries, results from deficiency of vitamin B(12) or folic acid. Over the last two to three decades, incidence of MA seems to be increasing. Of the two micronutrients, folic acid deficiency contributed to MA in a large majority of cases. Now deficiency of B(12) is far more common. In addition to anemia, occurrence of neutropenia and/or thrombocytopenia is increasingly being reported. Among cases presenting with pancytopenia, MA stands out as an important (commonest cause in some series) cause. This article focuses on these and certain other aspects of MA. Possible causes of increasing incidence of MA are discussed. Observations on other clinical features like neurocognitive dysfunction, associated hyperhomocysteinemeia and occurrence of tremors and thrombocytosis during treatment are highlighted.
Asunto(s)
Anemia Megaloblástica/epidemiología , Deficiencia de Ácido Fólico/epidemiología , Deficiencia de Vitamina B 12/epidemiología , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiología , Anemia Megaloblástica/terapia , Niño , Preescolar , Dieta Vegetariana/efectos adversos , Deficiencia de Ácido Fólico/diagnóstico , Deficiencia de Ácido Fólico/etiología , Deficiencia de Ácido Fólico/terapia , Humanos , India/epidemiología , Lactante , Recién Nacido , Pancitopenia/etiología , Pobreza , Prevalencia , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/etiología , Deficiencia de Vitamina B 12/terapiaAsunto(s)
Anemia/diagnóstico , Anemia/terapia , Conocimientos, Actitudes y Práctica en Salud , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/terapia , Anemia Hipocrómica/diagnóstico , Anemia Hipocrómica/terapia , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapia , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/terapia , Recuento de Células Sanguíneas , Plaquetas , Médula Ósea/fisiopatología , Recuento de Eritrocitos , Humanos , Hierro/metabolismoRESUMEN
Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine depletion. The clinical presentation reflects intracellular Cbl defects, with early-onset failure to thrive with gastrointestinal symptoms, pancytopenia, and megaloblastic anemia, sometimes followed by neurological complications. We report the clinical, biological, and molecular findings and the outcome in five TC-deficient patients. The three treated early had an initial favorable outcome, whereas the two treated inadequately had late-onset severe neuro-ophthalmological impairment. Even if the natural course of the disease over time might also result in late-onset symptoms in the aggressively treated patients, these data emphasize that TC deficiency is a severe disorder requiring early detection and probably long-term aggressive therapy. Mutation analysis revealed six unreported mutations in the TCN2 gene. In silico structural analysis showed that these mutations disrupt the Cbl-TC interaction domain and/or the putative transcobalamin-transcobalamin receptor interaction domain.
Asunto(s)
Transcobalaminas/deficiencia , Transcobalaminas/metabolismo , Anemia Megaloblástica/terapia , Transporte Biológico , Análisis Mutacional de ADN , Cartilla de ADN/genética , Femenino , Homocisteína/química , Humanos , Lactante , Recién Nacido , Metionina/metabolismo , Ácido Metilmalónico/metabolismo , Mutación , Reacción en Cadena de la Polimerasa , Estructura Terciaria de ProteínaRESUMEN
OBJECTIVE: The aim of this study was to establish the bioavailability of different folates produced by engineered Lactococcus lactis strains using a rodent depletion-repletion bioassay. METHODS: Rats were fed a folate-deficient diet, which produces a reversible subclinical folate deficiency, supplemented with different L. lactis cultures that were added as the only source of folate. Three bacterial strains that overexpressed the folC, folKE, or folC +KE genes were used. These strains produce folates with different poly glutamyl tail lengths. The growth response of the rats and the concentration of folates in different organs and blood samples were monitored. RESULTS: The folate produced by the engineered strains was able to compensate the folate depletion in the diet and showed similar bioavailability compared with commercial folic acid that is normally used for food fortification. Folate concentrations in organ and blood samples increased significantly in animals that received the folate-producing strains compared with those that did not receive bacterial supplementation. Hematologic studies also showed that administration of the L. lactis strains was able to revert a partial megaloblastic anemia caused by folate deficiency. No significant differences were observed in the bioavailability of folates containing different glutamyl tail lengths. CONCLUSION: To our knowledge, this is the first study that demonstrated that folates produced by engineered lactic acid bacteria represent a bioavailable source of this essential vitamin.
Asunto(s)
Suplementos Dietéticos , Deficiencia de Ácido Fólico/terapia , Ácido Fólico/biosíntesis , Genes Bacterianos , Lactococcus lactis/metabolismo , Probióticos/uso terapéutico , Anemia Megaloblástica/terapia , Animales , Disponibilidad Biológica , Ácido Fólico/genética , Deficiencia de Ácido Fólico/metabolismo , Ingeniería Genética/métodos , Lactococcus lactis/genética , Masculino , Ratas , Ratas WistarRESUMEN
Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus coexists--and the role of thiamine replacement for the treatment of both disorders.