RESUMO
BACKGROUND: Auto-immune thrombotic thrombocytopenic purpura (TTP) is a morbid multi-organ disorder. Cardiac involvement not recognized in initial disease descriptions is a major cause of morbidity. Therapeutic plasma exchange (TPE) requires exposure to multiple plasma donors with risk of transfusion-transmitted infection (TTI). Pathogen inactivation (PI) with amotosalen-UVA, the INTERCEPT Blood System for Plasma (IBSP) is licensed to reduce TTI risk. METHODS: An open-label, retrospective study evaluated the efficacy of quarantine plasma (QP) and IBSP in TTP and defined treatment emergent cardiac abnormalities. Medical record review of sequential patient cohorts treated with QP and IBSP characterized efficacy by remission at 30 and 60 days (d) of treatment, time to remission, and volume (L/kg) of plasma required. Safety outcomes focused on cardiac adverse events (AE), relapse rates, and mortality. RESULTS: Thirty-one patients (18 IBSP and 13 QP) met study criteria for auto-immune TTP. The proportions (%) of patients in remission at 30 d (IBSP = 61·1, QP = 46·2, P = 0·570) and 60 d (IBSP = 77·8, QP = 76·9, P = 1·00) were not different. Median days to remission were less for IBSP (15·0 vs. 24·0, P = 0·003). Relapse rates (%) 60 d after remission were not different between cohorts (IBSP = 7·1, QP = 40·0, P = 0·150). ECG abnormalities before and during TPE were frequent; however, cardiac AE and mortality were not different between treatment cohorts. CONCLUSIONS: Cardiac and a spectrum of ECG findings are common in TTP. In this study, IBSP and QP had similar therapeutic profiles for TPE.
RESUMO
BACKGROUND: Alpha thalassemia-myelodysplastic syndrome (ATMDS) is one of the possible complications related to the genetic instability typical of clonal hemopoietic disorders such as myelodysplastic syndromes (MDS). Hemoglobin H acquisition, which is hemoglobin without alpha chains and with 4 beta chains is the hallmark of this disease. OBSERVATION: An 86-year-old male with chronic, microcytic anemia was referred due to a fall in his hemoglobin level. The blood smear was remarkable for intense anisocytoses and poikilocytosis. Bone marrow analysis was followed by a diagnosis of MDS with a good prognostic score. Peripheral blood coloration with brilliant cresyl blue showed "golf ball-like" erythrocytes. Hemoglobin electrophoresis is notable for the presence of H hemoglobin. The new generation sequencing confirmed the diagnosis of ATMDS showing a non-sense mutation in the gene ATRX. CONCLUSION: The diagnosis of ATMDS should be considered in the presence of the association of MDS, microcytic anemia and marked blood smear abnormalities such as anisocytosis and poikilocytosis. A little less than 10% of all MDS are complicated by ATMDS.
Assuntos
Síndromes Mielodisplásicas , Talassemia alfa , Masculino , Humanos , Idoso de 80 Anos ou mais , Talassemia alfa/complicações , Talassemia alfa/diagnóstico , Proteína Nuclear Ligada ao X/genética , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/genética , MutaçãoAssuntos
Dermacentor , Dermatoses do Couro Cabeludo/diagnóstico , Rickettsiose do Grupo da Febre Maculosa/diagnóstico , Infestações por Carrapato/diagnóstico , Animais , Dermacentor/fisiologia , Feminino , Humanos , Pessoa de Meia-Idade , Pescoço/parasitologia , Pescoço/patologia , Couro Cabeludo/parasitologia , Couro Cabeludo/patologia , Dermatoses do Couro Cabeludo/etiologia , Rickettsiose do Grupo da Febre Maculosa/patologia , Síndrome , Infestações por Carrapato/complicaçõesRESUMO
INTRODUCTION: Treatment of giant cell arteritis is based on prolonged corticosteroid therapy but adverse side effects are common especially in the elderly. CASE REPORTS: We report three patients with giant cell vasculitis treated by tocilizumab, an interleukin-6 receptor antibody, owing to resistance or intolerance to corticosteroid therapy. A favorable outcome was rapidly observed both on clinical and biological data allowing a corticoid therapy sparing. CONCLUSION: Tocilizumab is a promising treatment of giant cell arteritis but controlled trials are needed to confirm its efficacy.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Arterite de Células Gigantes/tratamento farmacológico , Corticosteroides/uso terapêutico , Idoso , Resistência a Medicamentos/efeitos dos fármacos , Feminino , Humanos , Resultado do TratamentoRESUMO
INTRODUCTION: Statins or 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitors (HMGCR) are among the most commonly prescribed treatment in France. They may be responsible for muscular intolerance with variable severity. They have been recently involved in the occurrence of an acquired inflammatory myopathy associated with anti-HMGCR antibodies. This new type of toxic myopathy remains poorly known by clinicians. OBSERVATION: We report a 61-year-old woman treated with a statin for many years who developed a lower and upper limb disabling myopathy with a rapid unfavourable course despite treatment withdrawal. Clinical history and investigations, especially including an assay for anti-HMGCR antibodies led to the diagnosis of autoimmune necrotizing myopathy with anti-HMGCR antibodies. Subsequent initiation of an immunosuppressive treatment by corticosteroids and methotrexate was effective. CONCLUSION: Statins may unmask or cause an autoimmune necrotizing myopathy associated with the presence of anti-HMGCR antibodies. Their identification is now routinely available. An immunosuppressive treatment is necessary and justified by the autoimmune nature of the disease.
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Autoanticorpos/sangue , Doenças Autoimunes/induzido quimicamente , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Doenças Musculares/induzido quimicamente , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/imunologia , Doenças Autoimunes/patologia , Biomarcadores/sangue , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Imunossupressores/uso terapêutico , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Doenças Musculares/tratamento farmacológico , Doenças Musculares/imunologia , Doenças Musculares/patologia , Necrose , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoAssuntos
Aneurisma/diagnóstico , Complicações na Gravidez/diagnóstico , Hemorragia Retiniana/diagnóstico , Vasculite Retiniana/diagnóstico , Retinite/diagnóstico , Adulto , Aneurisma/complicações , Aneurisma/patologia , Aneurisma/cirurgia , Progressão da Doença , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Fotocoagulação , Gravidez , Complicações na Gravidez/patologia , Complicações na Gravidez/cirurgia , Hemorragia Retiniana/complicações , Hemorragia Retiniana/patologia , Hemorragia Retiniana/cirurgia , Vasculite Retiniana/complicações , Vasculite Retiniana/patologia , Vasculite Retiniana/cirurgia , Retinite/complicações , Retinite/patologia , Retinite/cirurgia , SíndromeRESUMO
Tubulopathy can complicate autoimmune diseases. It is usually a distal tubular acidosis, but Fanconi syndrome or Bartter syndrome has been exceptionally reported. We report a case of acquired Gitelman syndrome in a 32-year-old male who also presented diffuse scleroderma autoimmune thyroiditis, and Sjögren's syndrome. Only three cases of Sjögren syndrome associated with Gitelman syndrome have been previously reported in literature. The absence of other cases in the family and absence of mutation SLC12A3 emphasise the relation between autoimmune disease and this tubulopathy.