RESUMO
Diminished activity of 5,10 methylenetetrahydrofolate reductase (MTHFR), a regulatory enzyme of homocysteine metabolism, may predispose to coronary artery disease (CAD). In a case-control study we determined the prevalence of two common MTHFR polymorphisms, C677T and A1298C, in 161 male patients under the age of 50 years with angiographically documented CAD and compared it to that in 211 healthy controls. Genotyping was also performed in a random population sample, consisting of 149 men and 121 women at an average age of 40 years. The studied group had classic risk factors of atherosclerosis but did not differ in fasting plasma homocysteine, folic acid, and vitamin B12 levels in either the control group or population sample. The frequency of the 1298C allele was significantly higher in CAD (0.304) than in controls (0.199) or the population sample (0.235). Allele 1298C showed a significant association with early-onset CAD both in homozygotes and in heterozygous carriers. These findings were further supported by comparisons with the population sample. Homozygosity for allele 677T showed a tendency to associate with CAD. Allele 1298C of MTHFR is associated with early-onset CAD (carriers- RR = 1.71, 95% CI: 1.13-2.59; homozygotes- RR = 3.09, 95% CI: 1.36-7.02), even when blood homocysteine levels are not elevated.
Assuntos
Doença das Coronárias/enzimologia , Doença das Coronárias/genética , Homocisteína/sangue , Oxirredutases atuantes sobre Doadores de Grupo CH-NH , Adolescente , Adulto , Idade de Início , Alelos , Estudos de Casos e Controles , Doença das Coronárias/sangue , Doença das Coronárias/epidemiologia , Feminino , Ácido Fólico/sangue , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Homozigoto , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Pessoa de Meia-Idade , Infarto do Miocárdio/enzimologia , Infarto do Miocárdio/epidemiologia , Infarto do Miocárdio/genética , Polimorfismo Genético , Prevalência , Fatores de RiscoRESUMO
We report the case of a catastrophic antiphospholipid syndrome (CAPS), which developed without a known cause in a 38-year old man. Primary antiphospholipid syndrome was diagnosed one year earlier. Clinical manifestations of CAPS were dominated by diffuse intraalveolar haemorrhage leading to acute respiratory failure and renal failure. Syndrome of multiorgan failure developed despite the treatment with plasmapheresis, high doses of glycocorticosteroids, an intravenous gammaglobulins. The patient died 6 weeks after the admission.