INTRODUÇÃO: A fibromialgia é uma síndrome reumática caracterizada por dor difusa e crônica associada a fadiga, insônia, ansiedade, depressão, perda de memória e tontura. Embora os mecanismos fisiológicos que controlam a fibromialgia não tenham sido estabelecidos, fatores neuroendócrinos, genéticos ou moleculares podem estar envolvidos. OBJETIVO: O objetivo do presente estudo foi caracterizar os polimorfismos dos genes do receptor de serotonina (5-HT2A) e da catecolO-metiltransferase (COMT) em pacientes brasileiros com fibromialgia, a fim de avaliar sua participação na etiologia da doença. MATERIAL E MÉTODOS: O DNA genômico extraído de 102 amostras de sangue (51 pacientes, 51 controles) foi usado para a caracterização molecular dos polimorfismos dos genes 5-HT2A e COMT, por meio de PCR-RFLP. RESULTADOS: A análise molecular dos polimorfismos do gene 5-HT2A demonstrou frequências de 25,49% C/C, 49,02% T/C e 25,49% T/T, nos pacientes com fibromialgia, e 17,65% C/C, 62,74% T/C e 19,61% T/T, no grupo controle, não apresentando diferença significativa entre o grupo de pacientes e o grupo controle. Os polimorfismos do gene da COMT em pacientes com fibromialgia apresentaram uma frequência de 17,65% e 45,10% para os genótipos H/H e L/H, respectivamente. No grupo controle, as frequências foram de 29,42%, para H/H, e 60,78%, para L/H, sem diferença significativa entre ambos os grupos. Entretanto, houve diferença significativa na frequência do genótipo L/L em pacientes (37,25%) e controles (9,8%), o que permitiu a diferenciação entre os dois grupos. CONCLUSÃO: A frequência do genótipo L/L foi maior nos pacientes com fibromialgia. Apesar de a fibromialgia envolver uma situação poligênica e fatores ambientais, o estudo molecular do SNP rs4680 do gene da COMT pode auxiliar a identificação de indivíduos suscetíveis.

INTRODUCTION: Fibromyalgia is a rheumatic syndrome characterized by diffuse and chronic pain associated with fatigue, sleep disorders, anxiety, depression, memory loss, and dizziness. Although the physiological mechanisms that control fibromyalgia have not been precisely established, neuroendocrine, genetic or molecular factors may be involved in fibromyalgia. OBJECTIVE: The aim of the present study was to characterize serotonin receptor (5-HT2A) and catecholO-methyltransferase (COMT) gene polymorphisms in Brazilian patients with fibromyalgia and to evaluate the participation of these polymorphisms in the etiology of the disease. MATERIAL AND METHODS: Genomic DNA extracted from 102 blood samples (51 patients, 51 controls) was used for molecular characterization of the 5-HT2A and COMT gene polymorphisms by PCR-RFLP. RESULTS: Analysis of the 5-HT2A polymorphism revealed a frequency of 25.49% C/C, 49.02% T/C and 25.49% T/T in patients, and of 17.65% C/C, 62.74% T/C and 19.61% T/T in the control group, with no differences between the two groups.Analysis of the COMT polymorphism in patients showed a frequency of 17.65% and 45.10% for genotypes H/H and L/H, respectively. In the control group the frequency was 29.42% for H/H and 60.78% for L/H, also with no differences between the two groups. However, there was a significant difference in the frequency of the L/L genotype between patients (37.25%) and controls (9.8%), which permitted differentiation between the two groups. CONCLUSION: The L/L genotype was more frequent among fibromyalgia patients. Though considering a polygenic situation and environmental factors, the molecular study of the rs4680 SNP of the COMT gene may be helpful to the identification of susceptible individuals.

OBJETIVO: Traçar um perfil clínico e laboratorial da síndrome do antifosfolípide (SAF), comparando a primária (SAFP) com aquela secundária (SAFS) ao lúpus eritematoso sistêmico (LES). MÉTODOS: Avaliamos 27 pacientes com SAFP e 32 com SAFS ao LES, acompanhados no Ambulatório de Colagenoses do HC/FMRP/ USP, quanto à ocorrência de trombose arterial, venosa, perda gestacional, livedo reticular, fenômeno de Raynaud, anemia hemolítica auto-imune, plaquetopenia, linfopenia, anticorpos anticardiolipina, anticoagulante lúpico, antinucleares, anti-Sm e VDRL. Os anticorpos anticardiolipina e anti-Sm foram pesquisados por ELISA, os antinucleares por imunofluorescência indireta e o anticoagulante lúpico pelo tempo de protrombina diluída, tempo de coagulação do caulin ou tempo do veneno de víbora de Russell diluído. Para análise estatística utilizamos o teste exato de Fisher bicaudal. RESULTADOS: Observamos aumento da freqüência de trombose arterial na SAFP (59,3% vs 25,0%, p=0,009) e de trombose venosa na SAFS (53,1% vs 33,3%, p>0,05), enquanto não houve diferenças entre as freqüências de perda gestacional (50,0% vs 56,7%), fenômeno de Raynaud (18,5% vs 18,8%), livedo reticular (18,5% vs12,5%), anticoagulante lúpico (33,3% vs 37,5%) e anticardiolipina IgG (79,2% vs 72,4%) e IgM (58,4% vs 65,5%). Ademais, observamos aumento significante de linfopenia (71,2% vs 7,4%, p<0,0001), de anticorpos antinucleares (100% vs 7,4%, p<0,0001) e de VDRLpositivo (47,1% vs 5,0%, p=0,005) na SAFS ao LES quando comparada com a SAFP. CONCLUSÕES: As manifestações clínicas e laboratoriais são semelhantes na SAFP e na SAFS ao LES, sendo a trombose arterial mais comum na SAFP, enquanto a presença de linfopenia, anticorpos antinucleares e VDRL positivo está associada com a SAFS ao LES.

OBJECTIVE: To study clinical and laboratory features of primary antiphospholipid syndrome (PAPS) and that of secondary (SAPS) to systemic lupus erythematosus (SLE). METHODS: Twenty-seven PAPS and 32 SAPS patients were investigated in relation to the presence of arterial/venous thrombosis, fetal loss, reticular livedo, Raynaud phenomenon, autoimmune hemolytic anemia, thrombocytopenia, lymphopenia, anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, anti-Sm and VDRL. Autoantibodies were investigated by ELISA (anticardiolipin and anti-Sm), indirect immunofluorescency (antinuclear antibodies) and by dilute prothrombin test, coagulation Kaolin test and dilute Russell viper venom test (lupus anticoagulant). RESULTS: Arterial thrombosis frequency was increased in PAPS (59.3% vs 25.0%, p=0.009) and venous thrombosis in SAPS (53.1% vs 33.3%; p>0.05), while there was no differences between frequencies of fetal loss (50.0% vs 56.7%), Raynaud phenomenon (18.5% vs 18.8%), reticular livedo (18.5% vs 12.5%), lupus anticoagulant (33.3% vs 37.5%), IgG anticardiolipin antibodies (79.2% vs 72,4%) and IgM anticardiolipin antibodies (58.4% vs 65.5%) in the two groups evaluated. Moreover, an increased frequency of lymphopenia (71.2% vs 7.4%; p<0.0001), antinuclear antibodies (100% vs 7.4%; p<0.0001) and positive VDRL (47.1% vs 5.0%, p=0.005) was observed in SAPS. CONCLUSIONS: Clinical and laboratory features were similar on PAPS and SAPS, although arterial thrombosis was associated to PAPS, and lymphopenia, antinuclear antibodies and VDRL were associated to SAPS.