ABSTRACT
Common variable immunodeficiency (CVID) is one of the inborn errors of immunity that have the greatest clinical impact. Rates of morbidity and mortality are higher in patients with CVID who develop liver disease than in those who do not. The main liver disorder in CVID is nodular regenerative hyperplasia (NRH), the cause of which remains unclear and for which there is as yet no treatment. The etiology of liver disease in CVID is determined by analyzing the liver injury and the associated conditions. The objective of this study was to compare CVID patients with and without liver-spleen axis abnormalities in terms of clinical characteristics, as well as to analyze liver and duodenal biopsies from those with portal hypertension (PH), to elucidate the pathophysiology of liver injury. Patients were divided into three groups: Those with liver disease/PH, those with isolated splenomegaly, and those without liver-spleen axis abnormalities. Clinical and biochemical data were collected. Among 141 CVID patients, 46 (32.6%) had liver disease/PH; 27 (19.1%) had isolated splenomegaly; and 68 (48.2%) had no liver-spleen axis abnormalities. Among the liver disease/PH group, patients, even those with mild or no biochemical changes, had clinical manifestations of PH, mainly splenomegaly, thrombocytopenia, and esophageal varices. Duodenal celiac pattern was found to correlate with PH (p < 0.001). We identified NRH in the livers of all patients with PH (n = 11). Lymphocytic infiltration into the duodenal mucosa also correlated with PH. Electron microscopy of liver biopsy specimens showed varying degrees of lymphocytic infiltration and hepatocyte degeneration, which is a probable mechanism of lymphocyte-mediated cytotoxicity against hepatocytes and enterocytes. In comparison with the CVID patients without PH, those with PH were more likely to have lymphadenopathy (p < 0.001), elevated ß2-microglobulin (p < 0.001), low B-lymphocyte counts (p < 0.05), and low natural killer-lymphocyte counts (p < 0.05). In CVID patients, liver disease/PH is common and regular imaging follow-up is necessary. These patients have a distinct immunological phenotype that may predispose to liver and duodenal injury from lymphocyte-mediated cytotoxicity. Further studies could elucidate the cause of this immune-mediated mechanism and its treatment options.
Subject(s)
Common Variable Immunodeficiency , Hypertension, Portal , Intestinal Diseases , Humans , Common Variable Immunodeficiency/complications , Splenomegaly , Hypertension, Portal/etiology , Liver Function Tests , HyperplasiaABSTRACT
JUSTIFICATIVA E OBJETIVOS: Apesar do alto valor preditivo positivo da anemia ferropriva para o câncer colorretal na população acima de 50 anos, há um atraso no diagnóstico da neoplasia, prejudicando o seu prognóstico. O objetivo deste estudo foi identificar a capacidade de investigação de residentes em clínica médica em relação ao câncer colorretal nesses pacientes, em alguns hospitais gerais. MÉTODO: Trata-se de estudo descritivo e analítico. Um questionário ilustrado por um caso clínico, trazendo perguntas sobre o diagnóstico mais importante para este tipo de anemia e da maneira mais precisa para o diagnóstico precoce da sua causa, foi aplicado a 103 médicos residentes em clínica médica. A resposta correta foi suspeitar de câncer colorretal entre as três principais causas para a anemia e investigar com colonoscopia em primeiro lugar em ordem de importância diagnóstica. RESULTADOS: Oitenta profissionais (77,7%) relataram câncer colorretal entre as três principais causas de anemia, com 15 (18,8%) indicando a colonoscopia em primeiro lugar, 25 (31,3%) no segundo, 18 (22,5%) no terceiro, e 14 (17,5%) em quarto na ordem de investigação diagnóstica. Quatro (5,0%) não mencionaram ordem de prioridade para a colonoscopia, e 4 (5%) não indicaram esse exame. Não houve diferença estatisticamente significativa entre as formas de investigação no que diz respeito aos residentes formados pelas duas principais escolas de Medicina em Salvador. CONCLUSÃO: Demonstrou-se que a investigação de câncer colorretal não segue um algoritmo uniforme para a avaliação da anemia ferropriva em pacientes nessa faixa etária, o que tende a retardar o diagnóstico da doença.
BACKGROUND AND OBJECTIVES: Although the high predictive positive value of iron deficiency anemia for colorectal cancer in the population with 50 years or older, there is a delay in the neoplasia diagnosis, damaging prognosis. This study aimed at identifies resident?s ability to investigate colorectal cancer in these patients, at some general hospitals. METHOD: The study was descriptive and analytical. A questionnaire, illustrated by a clinical case, about the most important diagnosis for this type of anemia and the more precise way to the early diagnosis of its cause, was applied to a sample of 103 medical residents in internal medicine. The correct answer was to suspect of colorectal cancer among the three main causes for the anemia and to investigate it with colonoscopy in first line of choice. RESULTS: Eighty professionals (77.7%) reported colorectal cancer among the three main diagnosis, with 15 (18.8%) indicating colonoscopy in first line of choice, 25 (31.3%) in second, 18 (22.5%) in third, and 14 (17.5%) in fourth. Four (5%) didn?t mention the order of choice for colonoscopy, and 4 (5%) didn?t indicated it. No statistical significant difference was shown in the attitudes among the residents graduated by the two main medical schools at Salvador. CONCLUSION: It was shown that investigation of colorectal cancer did not follow a uniform algorithm for the assessment of iron deficiency anemia in patients at this age, what tend to delay diagnosis of the condition.
