ABSTRACT
As doenças autoinflamatórias sistêmicas são um grupo de doenças raras recentemente descritas, mas que vêm ganhando espaço no cenário clínico. Caracterizam-se por alterações da imunidade inata, portanto sem a presença de linfócito T autorreator ou autoanticorpo, e que respondem ao bloqueio de uma única citocina. Esta revisão tem como objetivo analisar a base imunofisiológica destas doenças e descrever brevemente cada uma delas com suas características clínicas mais importantes.
Systemic autoinflammatory diseases are a group of rare diseases only recently described but rapidly growing in importance in the clinical setting. They are characterized by innate immunity impairment, i.e., absence of autoreactive T lymphocytes or autoantibodies, and respond to individual cytokine blockade. The objective of this review was to analyze the immunophysiological basis of these diseases and to briefly describe each of them along with their most relevant clinical characteristics.
Subject(s)
Humans , Autoantibodies , T-Lymphocytes , Cytokines , Rare Diseases , Immunity, Innate , Familial Mediterranean Fever , Pyoderma Gangrenosum , Acne Vulgaris , Schnitzler Syndrome , Mevalonate Kinase Deficiency , Cryopyrin-Associated Periodic Syndromes , LipodystrophyABSTRACT
As doenças autoinflamatórias são doenças inflamatórias raras cujo cerne imunológico baseia-se na imunidade inata. A maioria das doenças autoinflamatórias tem início na idade pediátrica, mas pouco se sabe sobre as doenças que se iniciam na vida adulta. O diagnóstico é feito por exclusão, e, quando possível, com auxílio de técnicas moleculares. Este artigo tem como objetivo relatar um caso de doença autoinflamatória de início na vida adulta e a partir dele estabelecer fluxograma de auxílio ao diagnóstico.
Autoinflammatory diseases are rare inflammatory conditions whose immunopathology relies essentially on innate immunity. The majority of autoinflammatory diseases have their onset in childhood, but little is known about diseases that initiate in adulthood. Diagnosis is made by exclusion and with the aid of molecular techniques whenever possible. This article describes a case of autoinflammatory disease that started in adulthood, and aims to propose a flowchart to aid in the diagnosis of these conditions.
Subject(s)
Humans , Female , Adult , Familial Mediterranean Fever , Colchicine , Hereditary Autoinflammatory Diseases , Immunity, Innate , Therapeutics , Positron-Emission Tomography , DiagnosisABSTRACT
A 20-year-old man with no previous medical history presented to the Emergency Department (ED) complaining of 3 h of chest pressure. He denied drug abuse or risk factors for coronary artery disease. He had no symptoms of viral infection. Physical examination was unremarkable. The first electrocardiogram (ECG) showed a 4 mm ST-segment elevation in the inferior leads and no PR depression. His troponin and CK-MB levels were abnormal. Urgent coronary angiography showed no lesions. Echocardiography was normal. The patient was investigated with cardiac computed tomography (CT) and late enhancement imaging. Cardiac anatomy and coronary arteries were normal in the first pass images. Later image acquisition showed an inferolateral enhancement. Since cardiac magnetic resonance (CMR) is the gold standard for myocarditis evaluation, the patient was transferred for CMR evaluation which showed edema and late enhancement in the same myocardial territory diagnosed by CT. The patient was discharged with a diagnosis of myocarditis and presented asymptomatic at 1 month follow-up. This is the first report to show the topographic correlation of the ECG ST elevation with the myocarditis diagnosed by CT and CMR. Since CT is more widely available, its use in myocarditis diagnosis might become part of its routine work up.
