RESUMEN
INTRODUCTION: Corpus-restricted atrophic gastritis is a chronic inflammatory disorder leading to possible development of type 1 neuroendocrine tumors (T1gNET), intraepithelial neoplasia (IEN), and gastric cancer (GC). We aimed to assess occurrence and predictors of gastric neoplastic lesions in patients with corpus-restricted atrophic gastritis at long-term follow-up. METHODS: A prospective single-center cohort of patients with corpus-restricted atrophic gastritis adhering to endoscopic-histological surveillance was considered. Follow-up gastroscopies were scheduled according to the management of epithelial precancerous conditions and lesions of the stomach guidelines. In case of new/worsening of known symptoms, gastroscopy was anticipated. Cox regression analyses and Kaplan-Meier survival curves were obtained. RESULTS: Two hundred seventy-five patients with corpus-restricted atrophic gastritis (72.0% female, median age 61 [23-84] years) were included. At a median follow-up of 5 (1-17) years, the annual incidence rate person-year was 0.5%, 0.6%, 2.8%, and 3.9% for GC/high-grade IEN, low-grade IEN, T1gNET, and all gastric neoplastic lesions, respectively. All patients showed at baseline operative link for gastritis assessment (OLGA)-2, except 2 low-grade (LG) IEN patients and 1 T1gNET patient with OLGA-1. Age older than 60 years (hazard ratio [HR] 4.7), intestinal metaplasia without pseudopyloric metaplasia (HR 4.3), and pernicious anemia (HR 4.3) were associated with higher risk for GC/HG-IEN or LG-IEN development and shorter mean survival time for progression (13.4, 13.2, and 11.1, respectively, vs 14.7 years, P = 0.01). Pernicious anemia was an independent risk factor for T1gNET (HR 2.2) and associated with a shorter mean survival time for progression (11.7 vs 13.6 years, P = 0.04) as well as severe corpus atrophy (12.8 vs 13.6 years, P = 0.03). DISCUSSION: Patients with corpus-restricted atrophic gastritis are at increased risk for GC and T1gNET despite low-risk OLGA scores, and those aged older than 60 years with corpus intestinal metaplasia or pernicious anemia seem to display a high-risk scenario.
Asunto(s)
Anemia Perniciosa , Gastritis Atrófica , Gastritis , Infecciones por Helicobacter , Lesiones Precancerosas , Neoplasias Gástricas , Humanos , Femenino , Anciano , Persona de Mediana Edad , Masculino , Gastritis Atrófica/complicaciones , Gastritis Atrófica/epidemiología , Gastritis Atrófica/patología , Incidencia , Estudios de Cohortes , Anemia Perniciosa/epidemiología , Anemia Perniciosa/complicaciones , Anemia Perniciosa/patología , Estudios Prospectivos , Gastritis/complicaciones , Factores de Riesgo , Neoplasias Gástricas/patología , Lesiones Precancerosas/epidemiología , Lesiones Precancerosas/patología , Metaplasia/patología , Infecciones por Helicobacter/complicaciones , Mucosa Gástrica/patologíaAsunto(s)
Anemia Megaloblástica/diagnóstico , Eritrocitos/patología , Anemia Megaloblástica/tratamiento farmacológico , Anemia Megaloblástica/patología , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/tratamiento farmacológico , Anemia Perniciosa/patología , Índices de Eritrocitos , Eritrocitos/citología , Eritrocitos/efectos de los fármacos , Hematínicos/uso terapéutico , Humanos , Hidroxocobalamina/uso terapéutico , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies. CASE PRESENTATION: A Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and a mild elevation of indirect bilirubin. The hemoglobin level normalized each time after intramuscular vitamin B12 injection. Gene test verified a c.776delA frame shift mutation in exon 6 combined with c.585C > A nonsense early termination mutation in exon 5 of GIF which result in the dysfunction of gastric intrinsic factor protein. The hereditary intrinsic factor deficiency in literature was further reviewed and the ancestry of different mutation sites were discussed. CONCLUSIONS: A novel compound heterozygous mutation of GIF in a Chinese patient of hereditary intrinsic factor deficiency was reported. It was the first identified mutation of GIF in East-Asia and may indicate a new ancestry.
Asunto(s)
Anemia Perniciosa/congénito , Mutación del Sistema de Lectura , Factor Intrinseco/deficiencia , Factor Intrinseco/genética , Deficiencia de Vitamina B 12/genética , Vitamina B 12/metabolismo , Adolescente , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/genética , Anemia Perniciosa/patología , Secuencia de Bases , Bilirrubina/sangre , China , Exones , Mucosa Gástrica/metabolismo , Mucosa Gástrica/patología , Expresión Génica , Hemoglobinas/metabolismo , Humanos , Masculino , Linaje , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/patologíaAsunto(s)
Anemia Perniciosa/patología , Deficiencia de Vitamina B 12/complicaciones , Vitamina B 12/administración & dosificación , Adulto , Anemia Perniciosa/tratamiento farmacológico , Anemia Perniciosa/etiología , Femenino , Humanos , Pronóstico , Complejo Vitamínico B/administración & dosificaciónRESUMEN
CONTEXT.: Autoimmune gastritis (AG) is a corpus-restricted chronic atrophic gastritis associated with intrinsic factor deficiency, either with or without pernicious anemia. Autoimmune gastritis is a microscopic disease because patients present with no or vague symptoms, and clinicians rarely find endoscopic changes. Autoimmune gastritis only becomes a clinical disease when pathologists diagnose it in gastric biopsies performed for a variety of clinical indications. Unfamiliarity with this disease can result in misdiagnosis of patients, and thus inadequate patient management. OBJECTIVE.: To review the pathogenesis, clinical features, diagnostic criteria, differential diagnoses, sequelae, and surveillance recommendations for AG. DATA SOURCES.: The sources of the study include a review of the pertinent literature for AG. CONCLUSIONS.: Autoimmune gastritis is an important disease characterized by a loss of oxyntic mucosa and presence of metaplastic epithelium and enterochromaffin-like cell hyperplasia. Awareness and proper diagnosis are critical to prevent mismanagement of patients.
Asunto(s)
Anemia Perniciosa/congénito , Enfermedades Autoinmunes/diagnóstico , Gastritis Atrófica/diagnóstico , Hiperplasia/diagnóstico , Factor Intrinseco/deficiencia , Metaplasia/diagnóstico , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/patología , Enfermedades Autoinmunes/patología , Biopsia , Enfermedad Crónica , Diagnóstico Diferencial , Errores Diagnósticos , Epitelio/patología , Gastritis Atrófica/patología , Humanos , Hiperplasia/patología , Metaplasia/patología , Estómago/patologíaRESUMEN
Pernicious anemia (PA), the commonest cause of cobalamin deficiency (CD) in the world, is an autoimmune disease of multifactorial origin and is characterized by chronic atrophic gastritis (CAG) and defective absorption of cobalamin from the terminal ileum due to interference by the intrinsic factor (IF) antibodies. PA-related CD is a lengthy process, which if untreated, can lead to irreversible hematological and neurological sequelae. Although safe and effective therapy is available and the management of PA is straightforward, the diagnosis of PA can be extremely difficult to obtain due to myriad and diverse clinical presentations, frequently coexisting diseases, and limitations of currently available diagnostic tests. Diagnostic dilemmas may occur when PA patients present with normal or spuriously high serum cobalamin levels, dysplastic features of ring sideroblasts in the bone marrow (BM), hemolysis, and concomitant diseases such as iron deficiency or thalassemia. Herein, the author discusses an overview of diagnostic difficulties, with regards to morphological mimics, coexisting diseases, limitations of currently available tests, and how to diagnose PA in the era of imperfect laboratory tests.
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Anemia Perniciosa/diagnóstico , Anemia Perniciosa/sangre , Anemia Perniciosa/complicaciones , Anemia Perniciosa/patología , Autoanticuerpos/sangre , Biomarcadores/sangre , Pruebas Hematológicas , HumanosAsunto(s)
Anemia Megaloblástica/complicaciones , Anemia Perniciosa/patología , Eliptocitosis Hereditaria/patología , Eritrocitos Anormales/patología , Enfermedades Hematológicas/patología , Síndromes de Malabsorción/complicaciones , Proteinuria/complicaciones , Deficiencia de Vitamina B 12/patología , Anemia Perniciosa/etiología , Niño , Eliptocitosis Hereditaria/etiología , Femenino , Enfermedades Hematológicas/etiología , Humanos , Pronóstico , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/etiologíaRESUMEN
B12 deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B12 deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B12 absorption, best exemplified by the autoimmune disease pernicious anemia. There are many other causes of B12 deficiency, which range from severe to mild. Mild deficiency usually results from failure to render food B12 bioavailable or from dietary inadequacy. Although rarely resulting in megaloblastic anemia, mild deficiency may be associated with neurocognitive and other consequences. B12 deficiency is best diagnosed using a combination of tests because none alone is completely reliable. The features of B12 deficiency are variable and may be atypical. Timely diagnosis is important, and treatment is gratifying. Failure to diagnose B12 deficiency can have dire consequences, usually neurological. This review is written from the perspective of a practicing hematologist.
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Anemia Megaloblástica/etiología , Anemia Perniciosa/etiología , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/metabolismo , Vitamina B 12/metabolismo , Anemia Megaloblástica/metabolismo , Anemia Megaloblástica/patología , Anemia Perniciosa/metabolismo , Anemia Perniciosa/patología , Animales , Ácido Fólico/metabolismo , Humanos , Absorción Intestinal , Vitamina B 12/sangre , Deficiencia de Vitamina B 12/patología , Deficiencia de Vitamina B 12/terapiaRESUMEN
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic hemolytic anemia that requires emergent treatment with plasma exchange and is one of the most important conditions for which apheresis service professionals are consulted. Careful interpretation of initial laboratory values and the peripheral blood smear is a critical first step to determining the need for plasma exchange because other conditions can show deceptively similar red cell morphology, and ADAMTS13 levels are often not rapidly available. CASE REPORT: We report a case of a patient who was initially diagnosed with TTP and treated with plasma exchange based on preliminary laboratory data and a peripheral blood smear that contained bizarre microcytic red blood cells presumed to be schistocytes. The peripheral blood smear was later interpreted by the hematopathologist to be inconsistent with TTP, and further workup led to a diagnosis of severe vitamin B12 deficiency secondary to pernicious anemia. RESULTS AND CONCLUSION: This case highlights the diagnostic complexity of thrombotic microangiopathies and the importance of a critical evaluation of the blood smear and presenting laboratory data when there is a concern for TTP.
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Anemia Perniciosa/diagnóstico , Anemia Perniciosa/patología , Púrpura Trombocitopénica Trombótica/diagnóstico , Púrpura Trombocitopénica Trombótica/patología , Vitamina B 12/administración & dosificación , Vitamina B 12/uso terapéutico , Adulto , Anemia Perniciosa/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Deficiencia de Vitamina B 12/tratamiento farmacológicoAsunto(s)
Anemia Perniciosa/patología , Carcinoma de Células en Anillo de Sello/patología , Linitis Plástica/patología , Neoplasias Gástricas/patología , Anciano de 80 o más Años , Anemia Perniciosa/complicaciones , Anemia Perniciosa/cirugía , Carcinoma de Células en Anillo de Sello/complicaciones , Carcinoma de Células en Anillo de Sello/cirugía , Femenino , Humanos , Linitis Plástica/complicaciones , Linitis Plástica/cirugía , Pronóstico , Neoplasias Gástricas/complicaciones , Neoplasias Gástricas/cirugía , Tomografía Computarizada por Rayos XAsunto(s)
Anemia Perniciosa/diagnóstico , Anemia Perniciosa/patología , Aberraciones Cromosómicas , Anemia Perniciosa/etiología , Anemia Perniciosa/fisiopatología , Células de la Médula Ósea/patología , Deleción Cromosómica , Cromosomas Humanos Par 3/genética , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Síndromes Mielodisplásicos/diagnóstico , Recurrencia , Inducción de Remisión , Índice de Severidad de la Enfermedad , Síncope/etiología , Vitamina B 12/uso terapéutico , Deficiencia de Vitamina B 12/tratamiento farmacológico , Deficiencia de Vitamina B 12/fisiopatologíaRESUMEN
AIM: To investigate the presence of IgG4+ plasma cells in gastric mucosal biopsy samples from patients with atrophic gastritis (AG) and a history of pernicious anaemia (PA) (AG+PA+). METHODS: Gastric mucosal biopsy specimens from 46 patients with AG+PA+ were investigated. As controls, we evaluated specimens from patients with AG but no history of PA (AG+ PA-) (n=25), normal histology (n=25), mild chronic inactive gastritis (MCIG) (n=25) or Helicobacter pylori gastritis (HP) (n=25). IgG4+ plasma cells were detected by two immunohistochemical methods: (1) using a monoclonal antibody, the average of the three most cellular high-power fields was counted in areas with the highest density of IgG4+ plasma cells; (2) using a dual-chromagen stain for both IgG4 and CD138 (plasma cell marker), the number of IgG4+ cells per 200 CD138+ plasma cells was counted. The latter was used to ensure that the number of IgG4+ cells was not simply related to the degree of inflammation (density of plasma cells). RESULTS: Identical results were obtained with the two staining methods. Increased numbers of IgG4+ plasma cells were present in 37% of patients with AG+PA+, but in none with AG+PA-, MCIG, HP or normal gastric biopsy results (100% specific, p=0.0001). CONCLUSION: IgG4+ plasma cells may play a role in the pathogenesis of PA and may be a useful marker for its diagnosis.
Asunto(s)
Anemia Perniciosa/inmunología , Mucosa Gástrica/inmunología , Inmunoglobulina G/análisis , Células Plasmáticas/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Anemia Perniciosa/etiología , Anemia Perniciosa/patología , Biopsia , Estudios de Casos y Controles , Femenino , Mucosa Gástrica/patología , Gastritis/inmunología , Gastritis/microbiología , Gastritis/patología , Gastritis Atrófica/complicaciones , Gastritis Atrófica/inmunología , Gastritis Atrófica/patología , Infecciones por Helicobacter/complicaciones , Helicobacter pylori , Humanos , Masculino , Persona de Mediana Edad , Sindecano-1/análisisRESUMEN
INTRODUCTION: H. pylori gastritis and autoimmune gastritis are the two main types of chronic atrophic gastritis. Parietal cell antibody (PCA) and intrinsic factor antibody (IFA) are characteristic of autoimmune gastritis, of which IFA is more specific. Patients who are IFA negative are considered under the category of chronic atrophic gastritis. AIM: To differentiate IFA positive from IFA negative chronic atrophic gastritis. METHODS: Fifty consecutive patients of biopsy proven chronic atrophic gastritis were included in this study. All patients underwent haematological and biochemical tests including serum LDH, vitamin B12 and fasting serum gastrin levels. PCA and IFA antibodies were tested in all patients. Multiple gastric biopsies from body and antrum of the stomach were taken and evaluated for presence of intestinal metaplasia, endocrine cell hyperplasia, carcinoid and H. pylori infection. Patients were grouped as group A (IFA positive) and group B (IFA negative). The mean laboratory values and histological parameters were compared between the two groups using appropriate statistical methods. RESULTS: Eighteen patients were in group A (mean age 55.5 +/- 13 years, male: female = 16:2) and thirty-two in group B (mean age 49.7 +/- 13 years, male: female = 25:7). There was no statistically significant difference between median values of haemoglobin, MCV, LDH, Vitamin B12 and serum gastrin in both the groups. None of the histological parameters showed any significant difference. CONCLUSION: There was no statistically significant difference in haematological, biochemical and histological parameters in IFA positive and negative gastritis. These may be the spectrum of the same disease, where H. pylori may be responsible for initiating the process.