Síndrome tirogástrico autoinmune en mujer joven

RESUMEN El síndrome tirogástrico autoinmune es la asociación entre dos patologías de origen autoinmune: la anemia perniciosa y la tiroiditis autoinmune, generalmente de presentación en adultos mayores. Se presenta caso de una mujer de 34 años que acude por derrame pericárdico asociado a una pancitopenia por déficit de vitamina B12 debida a una gastritis atrófica de origen autoinmunitaria. Se diagnostica una tiroiditis autoinmune. Recibe tratamiento con complejo B y levotiroxina, con mejoría del derrame. Es importante que ante patologías autoinmunitarias se realice la búsqueda sistemática de otras enfermedades de la misma estirpe para el mejor manejo clínico.

ABSTRACT Autoimmune thyrogastric syndrome is the association between two pathologies of autoimmune origin: pernicious anemia and autoimmune thyroiditis, which usually presents in older adults. We present the case of a 34-year-old woman who consult about pericardial effusion associated with pancytopenia caused by vitamin B12 deficiency due to autoimmune atrophic gastritis. Autoimmune thyroiditis is diagnosed. She receives treatment with complex B and levothyroxine, with improvement of the effusion. It is important that in the case of autoimmune pathologies, a systematic search for other diseases of the same lineage is carried out for the best clinical management.

Refractory iron deficiency anemia as an early manifestation of autoimmune gastritis in a teenager / Anemia ferropénica refractaria como presentación temprana de gastritis autoinmune en un adolescente

Abstract Autoimmune gastritis is an underdiagnosed disease in the pediatric population due to the absence of specific signs and symptoms and late clinical manifestations. Iron deficiency anemia has recently been identified as an early hematological manifestation, allowing an early diagnostic approach. We present the case of a Colombian teenager, with no history of autoimmunity, with refractory iron deficiency. He underwent extension studies; biopsies and serology compatible with autoimmune gastritis were documented, requiring parenteral iron in its evolution. This pathology is underdiagnosed in our context since early diagnosis requires a high index of suspicion to prevent associated complications.

Resumen La gastritis autoinmune es una enfermedad subdiagnosticada en la población pediátrica. Lo anterior se debe a la ausencia de signos y síntomas específicos y manifestaciones clínicas tardías. Recientemente se ha identificado la anemia ferropénica como una manifestación hematológica precoz, lo que permite un enfoque diagnóstico temprano. Se presenta el caso de un adolescente colombiano, sin antecedentes de autoinmunidad, con ferropenia refractaria, en el que se realizaron estudios de extensión y se documentaron biopsias y serología compatible con gastritis autoinmune, con requerimiento de hierro parenteral en su evolución. Esta patología es subdiagnosticada en nuestro medio, ya que el diagnóstico temprano requiere un alto índice de sospecha, lo que permite la prevención de las complicaciones asociadas.

Paciente con anemia perniciosa y cambios comportamentales / A patient with behavioral alterations due to pernicious anemia

La anemia perniciosa es una patología hematológica caracterizada por anemia con volumen corpuscular medio alto, secundaria a la incapacidad del organismo para absorber la vitamina B12 por deficiencia de factor intrínseco. Se puede deber a la destrucción de las células parietales o la presencia de anticuerpos contra este factor, disminuyendo los valores séricos de cianocobalamina y alterando la síntesis de ADN y ARN. Dado que compromete las 3 líneas celulares, pueden tener variedad de síntomas clínicos. Las principales manifestaciones se dan en los sistemas nervioso central, periférico y gastrointestinal. El diagnóstico se basa en el hallazgo de cifras bajas cianocobalamina, anormalidades de la mucosa gástrica por atrofia, la cual debe confirmarse con biopsia. Se describe el caso de una paciente de 68 años de edad con cambios de comportamiento en sus funciones cognitivas, hemograma con evidencia de pancitopenia con anemia, volumen corpuscular medio elevado, así como niveles bajos de vitamina B12 y una endoscopia que mostraba gastritis eritematosa crónica atrófica. Se inicia suplencia con vitamina B12 con posterior recuperación completa de sus funciones cognitivas y cambios comportamentales.

Pernicious anemia is a hematologic condition characterized by anemia with an increased mean corpuscular volume, secondary to impaired vitamin B12 absorption due to lack of intrinsic factor. It may be associated with the destruction of parietal gastric cells or the presence of anti-intrinsic factor antibodies which generates decreased serum levels of cyanocobalamin and impair DNA and RNA synthesis. Given it involves the three cell lines it may have a varied symptomatology. Main manifestations are seen in the central and peripheral nervous system and gastrointestinal system. Diagnosis is based on finding low cyanocobalamin serum levels, associated with gastric mucosa anomalies due to atrophic gastritis, which must be confirmed by a biopsy. A case is described in a 68 year old female patient with behavioral alterations and cognitive impairment. Hemogram showed pancytopenia and anemia, increased mean corpuscular volume, as well as decreased serum vitamin B12 level and an endoscopy evidenced chronic erythematous atrophic gastritis. She received vitamin B12 therapy with full cognitive recovery and reversal of behavioral alterations.

Gastritis autoinmune: diagnóstico y manejo de una entidad subdiagnosticada / Autoimmune gastritis: diagnosis and management of an underdiagnosed disease

Autoimmune gastritis (AIG) or chronic atrophic gastritis type A, is a chronic inflammatory disease that affects the body and fundus mucosa of the stomach. It is an underdiagnosed entity, whose clinical presentation has a broad spectrum, which may include asymptomatic patients; hematological manifestations such as iron deficiency anemia, vitamin B12 deficiency anemia (so called pernicious); non-specific digestive symptoms like dyspepsia; neurological and psychiatric manifestations. AIG is associated with other autoimmune diseases, mainly hypothyroidism ("Tyrogastric Syndrome") and type 1 diabetes. It is characterized by the development of anti-parietal cell and anti-intrinsic factor antibodies, decrease in pepsinogen I (PGI) level with low PGI/PGII ratio (< 3), and high level of gastrin. Endoscopic findings are not sufficient for the diagnosis of gastric atrophy. The use of the Sydney pathological report protocol and the OLGA/OLGIM system to evaluate the severity of gastritis have improved their diagnosis and the possibility to establish the risk of developing gastric neoplasms. The importance of its diagnosis and surveillance is based on the development of type 1 neuroendocrine gastric neoplasms, in addition to an increased risk of the incidence of gastric adenocarcinoma. Currently, an individualized endoscopic surveillance seems reasonable, with a minimum interval of 3 years.

La gastritis autoinmune (GAI) o gastritis crónica atrófica tipo A, es una enfermedad inflamatoria crónica que afecta la mucosa del cuerpo y fondo del estómago. La GAI es una entidad subdiagnosticada, cuya presentación clínica es de amplio espectro, puede incluir pacientes asintomáticos; manifestaciones hematológicas, tales como anemia ferropriva, anemia por déficit de vitamina B12 (anemia perniciosa); digestivas inespecíficas tipo dispepsia; neurológicas y psiquiátricas. La GAI está asociada a otras enfermedades autoinmunes, principalmente hipotiroidismo ("síndrome tirogástrico") y diabetes tipo 1. Se caracteriza por el desarrollo de anticuerpos anti células parietales y anti factor intrínseco, bajo nivel de pepsinógeno I (PGI) con una baja relación PGI/PGII (< 3), e hipergastrinemia. Los hallazgos endoscópicos no son suficientes para el diagnóstico de atrofia gástrica. El uso de protocolo de Sydney de reporte patológico y sistema OLGA/OLGIM para evaluar la severidad de gastritis han mejorado su diagnóstico y objetivado su riesgo de desarrollar neoplasias gástricas. La importancia de su diagnóstico y seguimiento está basada en el desarrollo de neoplasias gástricas neuroendocrinas tipo 1, además de un riesgo incrementado de la incidencia de adenocarcinoma gástrico, entre otros. Actualmente, parece razonable un seguimiento endoscópico individualizado, siendo un intervalo mínimo de 3 años.

Pancitopenia em pacientes com anemia perniciosa. Estudo descritivo de 33 casos. / Pancytopenia in patients with pernicious anemia. Descriptive study of 33 cases.

Objetivo: Discriminar as variáveis de sexo e idade nos pacientes com anemia perniciosa; estudar seu perfil hematimétrico; verificar a prevalência de outras doenças autoimunes e anemia perniciosa; analisar a incidência da pancitopenia e sua relação com alterações laboratoriais comum na doença; e avaliar a frequência dos autoanticorpos anticélulas parietais e antifator intrínseco. Métodos: Estudo transversal descritivo, de base clínica e laboratorial, de 33 prontuários de pacientes com anemia perniciosa, diagnosticados em um ambulatório de hospital terciário de atenção à saúde, no período de junho de 2009 a junho de 2014. Para analisar a relação da presença e da ausência de pancitopenia com os níveis da enzima lactato desidrogenase e vitamina B12, foi utilizado o teste qui quadrado. O programa utilizado foi o software Epi Info, versão 7. Resultados: Na amostra, 63,6% eram mulheres, e a idade média geral foi de 47,3 anos. Doenças autoimunes estavam associadas em 30,3% dos pacientes. A pancitopenia esteve presente em 39,4% dos pacientes. Houve significância estatística na relação da pancitopenia com os níveis de enzima lactato desidrogenase (p<0,05). A prevalência do antifator intrínseco foi de 69,7% e dos autoanticorpos anticélulas parietais foi de 72,7%. Conclusão: A pancitopenia mostrou-se um achado significante na população com anemia perniciosa, assim como níveis elevado de LDH, acrescentando a anemia perniciosa como um diagnóstico diferencial de tais alterações laboratoriais.(AU)

Objective: To discriminate the gender and age variables in patients with pernicious anemia; to study erythrocyte profile; to check the prevalence of other autoimmune diseases and pernicious anemia; to analyze the incidence of pancytopenia and its relationship with common laboratory abnormalities in the disease; to evaluate the frequency of anti-gastric parietal cell antibodies, and anti-intrinsic factor antibodies. Methods: Descriptive, cross-sectional study of clinical and laboratorybased medical records of 33 patients with pernicious anemia diagnosed in an outpatient's department of a tertiary healthcare center, in the period between June 2009 and June 2014. To analyze the relationship between the presence and absence of pancytopenia with levels of lactate dehydrogenase enzyme and levels of Vitamin B12 we used the chi-squared test. The software used was Epininfo version 7. Results: The sample showed 63.6% women and 36.4% men with a mean age of 47.3 years. Autoimmune diseases were associated in 30.3% of the patients. Pancytopenia was present in 39.4% of patients. There was statistically significant relationship of pancytopenia with lactate dehydrogenase enzyme levels (p <0.05). The frequency of anti-intrinsic factor antibodies was 69.7%, and the antigastric parietal cell antibodies was 72.7%. Conclusion: Pancytopenia proved to be a significant finding among the population with pernicious anemia and high levels of LDH, which includes pernicious anemia as a differential diagnosis of such laboratory alterations.(AU)

Anemia perniciosa en una paciente con artritis reumatoide y vitíligo / Pernicious anemia in a female patient with rheumatoid arthritis and vitiligo

Resumen: Comunicamos el caso de una mujer en la cuarta década de la vida con antecedentes personales de artritis reumatoide y vitíligo, quien acudió a consulta por síndrome anémico. En su abordaje diagnóstico encontramos concentraciones bajas de vitamina B12 y anticuerpos contra factor intrínseco positivos con lo que llegamos al diagnóstico de anemia perniciosa. Este caso apoya la definición del término de síndrome de poliautoinmunidad en el que existe asociación entre diferentes enfermedades autoinmunitarias sin relación comprobada previamente.

Abstract: We report the case of a woman in the fourth decade of life with previous medical history of rheumatoid arthritis and vitiligo who presented with anemic syndrome. In the diagnostic workup we found low levels of vitamin B12 and positive intrinsic factor antibodies that corroborate the diagnosis of pernicious anemia. This clinical case supports the definition of polyautoimmune syndrome in which there is a link between different autoimmune diseases without a previous known relation.

Demencia reversible por déficit de vitamina B12 en un adulto mayor / Reversible dementia caused by vitamin B12 deficiency in an older adult

Se presenta el caso de un paciente adulto mayor con antecedente de haber presentado úlcera gástrica hace 40 años, cuyos familiares observaron desde hace dos meses cambios en el comportamiento, los cuales incluyeron progresivamente desorientación, agitación psicomotriz, negativismo, delirio de persecución, lo que motivó ser traído al servicio de emergencia. Así mismo presentó palidez marcada y equimosis múltiple, por lo cual fue admitido posteriormente en nuestro servicio y diagnosticado de demencia reversible por anemia perniciosa. También se le detectó pancitopenia y cambios neurológicos. El paciente respondió favorablemente a la administración de vitamina B12.

This is the case of an elderly patient with a 40-year history of stomach ulcer, whose relatives perceived behavioral changes for the last two months. Those changes progressively included disorientation, psychomotor agitation, negativism and delirium of persecution, which caused him to be brought to the emergency room. He also showed marked pallor and multiple ecchymosis, due to which he was hospitalized in our service and diagnosed with reversible dementia caused by pernicious anemia. Pancytopenia and neurological changes were also found. The patient responded favorably to the administration of vitamin B12.

La anemia como manifestación de la infección por Helicobacter pylori / Anemia as a manifestation of helicobacter pylori infection

Helicobacter pylori es el agente causal de infección más frecuente de la especie humana, con una marcada desventaja entre los países desarrollados y los países en vía de desarrollo, donde es mucho más frecuente. Si bien la infección por Helicobacter pylori cursa asintomática en la mayoría de los individuos infectados también es claro que está íntimamente relacionada con enfermedades malignas del estómago como el cáncer gástrico y el linfoma MALT; y enfermedades benignas como la gastritis crónica y la úlcera péptica duodenal y gástrica. A partir del momento en que se conoció que la mucosa gástrica podía ser colonizada por una bacteria, en la literatura médica mundial indexada (PubMed) se han informado alrededor de una centena de manifestaciones extragástricas que involucran a especialidadesmédicas tan disímiles como la cardiología, la dermatología, la endocrinología, la ginecoobstetricia, la hematología, la neumología, la neurología, la odontología, la oftalmología, la otorrinolaringología, la pediatría, la siquiatría y vascular periférico, algunas de ellas con mayor o menor acervo probatorio de la relación entre la infección por Helicobacter pylori y el desarrollo de la enfermedad. Esta revisión de la literatura médica mundial se centra en el análisis de la relación de la infección por Helicobacter pylori con las deficiencias de hierro y de vitamina B12, con o sin anemia. Se presentan para ambas formas de anemia, una visión general del problema, las evidencias de la asociación de cada una de ellas con la infección por Helicobacter pylori, la fisiopatología y el manejo en la era poshelicobacter.

Helicobacter pylori is the most common causative agent of human infection, with a marked disadvantage between developed and developing countries. Although Helicobacter pylori infection is asymptomatic in majority of individuals infected, it is also clear their close relation with malignant diseases of the stomach as gastric cancer and gastric MALT lymphoma; and benign diseases such as chronic gastritis and duodenal and gastric peptic ulcer. Since the moment that was known that the gastric mucosa can be colonized by bacteria, it has been informed about a hundred extragastric events in the indexed world medical literature (PubMed), that involves medical specialties as diverse as cardiology,dermatology, endocrinology, obstetrics and gynecology, hematology, pulmonology, neurology, dentistry, ophthalmology, otolaryngology, pediatrics, psychiatry, and peripheral vascular. Some of these with varying proofs of relation between Helicobacter pylori infection and disease development. This review was focuses on the analysis of the relationship between Helicobacter pylori infection with the iron and vitamin B12 deficiencies, with or without anemia. The information is presented for both forms of anemia, the problem overview, evidence of the association with Helicobacter pylori infection, the pathophysiology and management in poshelicobacter era.

Diagnóstico tardio da imunodeficiência comum variável / Late diagnosis of common variable immunodeficiency

A imunodeficiência comum variável (ICV) é uma doença primária do sistema imunológico associada a infecções recorrentes, principalmente no trato respiratório, fenômenos autoimunes e neoplasias. Sua incidência é relativamente baixa, mas é considerada entre as imunodeficiências primárias sintomáticas a mais comum; mesmo assim o atraso no seu diagnóstico costuma ser muito frequente. Os autores apresentam um caso de um paciente com diagnóstico prévio de anemia perniciosa que apresentava infecções respiratórias de repetição quando o diagnóstico de ICV foi suspeitado

Common variable immunodeficiency (CVID) is a primary disease of the immune system, associated with recurrent infections, mainly in the respiratory tract, autoimmune phenomena and malignancies. Although its incidence is relatively low, it is considered the most common among symptomatic primary immunodeficiencies. Still, the delay in diagnosis is very frequent. The authors present a case of a patient with previous diagnosis of pernicious anemia who presented with recurrent respiratory infections when the diagnosis of CVID was suspected

Niveles de vitamina B12 en pacientes colombianos con gastritis crónica atrófica / Levels of vitamin B12 in colombian patients with chronic atrophic gastritis

Se presenta un grupo de 75 pacientes adultos colombianos, con diagnóstico de gastritis crónica atrófica de acuerdo a los criterios de Sydney, de los cuales el 28% presentó deficiencia de vitamina B12 y al 9% se le diagnóstico anemia perniciosa.Las cifras de hemoglobina, volumen corpuscular medio no se correlacionaron con el déficit de vitamina B12. No se encontró una asociación estadística del déficit de la vitamina B12 con el género, edad mayor de 60 años de los pacientes o con la presencia del Helicobacter pylori (H. pylori).La edad promedio de los pacientes con déficit de vitamina B12 o con anemia perniciosa es menor a la que tradicionalmente se reporta para estas enfermedades.

We present a group of 75 Colombian adults who were diagnosed with chronic atrophic gastritis in accordance with the Sydney criteria. 28% of the group had vitamin B12 deficiencies: 9% were diagnosed with Pernicious anemia. Hemoglobin and mean corpuscular volume were not correlated with vitamin B12 deficiency. We found no statistical association of vitamin B12 deficiency with gender, patients over 60 years of age, or the presence of Helicobacter pylori (H. pylori). The average age of patients with vitamin B12 deficiency or pernicious anemia is less than that traditionally reported for these diseases.

Demência e neuropatia periférica reversíveis com reposição parenteral de vitamina B 12 / Improvement of dementia and peripheral neuropathy with parenteralvitamin B 12

A anemia perniciosa é a anemia por deficiência de vitami­na B 12 secundária a gastrite atrófica. Complicações incluem neuropatia periférica e lesões cerebrais que podem ou não ser reversíveis com a reposição da cobalamina. Apresentamos o caso de uma mulher de 80 anos com parestesias e piora cogni­tiva progressiva que evoluiu com paraparesia crural, deixando de deambular. Apresentava anemia megaloblástica, dosagem diminuída de vitamina B 12 e gastrite atrófica. Após o diagnós­tico de anemia perniciosa e a reposição vitamínica, a paciente evoluiu com melhora significativa. A importância deste relato de caso consiste em alertar os clínicos que o diagnóstico de anemia perniciosa deve ser considerado em idosos com neu­ropatia periférica e demência, pois a intervenção precoce pode evitar sequelas.