Identificação de grupos alélicos em pacientes com sarcoidose e descrição de seus aspectos epidemiológicos

Abstract

Sarcoidosis is a multisystem disease of unknown etiology characterized by large numbers of activated macrophages and T lymphocytes, especially CD4+. The clinical presentation is highly variable. Patients with sarcoidosis may present with any number of systemic or organ site-specific manifestations that may be acute or chronic in nature. All organs can be affected; however, granulomas and radiographic changes occur more frequently in the lungs. The pathophysiology of sarcoidosis is thought to involve antigen recognition and processing by antigen-presenting cells. The phenotypic expression of sarcoidosis can be related to different clinical presentation and worse prognostic observed in some ethnics groups. It was analyzed data from 100 patients with sarcoidosis who were being followed at Pulmonology out clinic at Piquet Carneiro Clinic – State University of Rio de Janeiro. There was a predominance of female patients (60%). The median of age among the female patients was 46.1 years old and 41.5 years old among male. The lung was the most common site affected by the disease, representing 85% of the cases. It was followed by the lymph nodes (60%) and skin (30%). The diagnosis was achieved by pulmonary biopsy from bronchoscopy in 50% of the cases and by open surgery in 4%. In 15% of the patients the diagnosis was done by lymph node biopsy, being 3% from mediastinoscopy and other 3% by venous angle. In the remaining patients, the biopsy was performed in peripheral lymph nodes. The HLA analysis was realized in 60 patients. There were identified the followed alleles of HLA: B*08, DRB1*03, DRB1*11, DQB1*02 e DQB1*06. The results were compared to collected data from HLA database of HLA Laboratory of State University of Rio de Janeiro. The HLA B*08 was found in 20% of the patients with sarcoidosis and in 6.4% of the controls. Although the literature reports that the presence of this allele could be related to acute and better prognosis disease, this was not observed in this cohort. It was not possible to demonstrate the presence of other allele which was more expressed than the control in these patients.