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.
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.
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.
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.
Treatment of giant cell arteritis is based on prolonged corticosteroid therapy but adverse side effects are common especially in the elderly.
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.
Tocilizumab is a promising treatment of giant cell arteritis but controlled trials are needed to confirm its efficacy.
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.
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.
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.
Les statines ou inhibiteurs de la 3-hydroxy-3-méthyl-glutaryl-coenzyme A réductase (HMGCR) font partie des traitements les plus prescrits en France. Ils sont par ailleurs bien connus pour être à ...l’origine d’intolérances musculaires de sévérité variable. Récemment, ils ont été impliqués dans la survenue de myopathies inflammatoires acquises liées à la présence d’anticorps anti-HMGCR. Cette nouvelle myopathie toxique reste mal connue par des cliniciens.
Nous rapportons l’observation d’une patiente de 61 ans, traitée depuis de nombreuses années par une statine, qui présentait une myopathie invalidante des quatre membres d’évolution rapidement défavorable malgré l’arrêt du traitement. L’histoire clinique, les investigations paracliniques et notamment le dosage des anticorps anti-HMGCR permettaient de retenir le diagnostic de myopathie nécrosante auto-immune à anticorps anti-HMGCR et d’initier un traitement immunosuppresseur efficace.
Un traitement par une statine peut démasquer ou être à l’origine d’une authentique myopathie nécrosante auto-immune en rapport avec la présence d’anticorps anti-HMGCR. Un traitement immunosuppresseur est nécessaire et rendu licite par la démonstration du caractère auto-immun de l’affection depuis l’identification des anticorps anti-HMGCR qui peuvent désormais être dosés en routine.
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.
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.
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.
La maladie de Horton est une vascularite traitée et généralement contrôlée par la corticothérapie seule, mais souvent au prix d’effets secondaires chez une population âgée avec nécessité d’un ...traitement prolongé pour prévenir les rechutes.
Nous rapportons trois observations de maladie de Horton traitées par tocilizumab, anticorps anti-récepteurs à l’interleukine-6 (IL-6), soit du fait d’une corticorésistance, soit du fait d’une intolérance aux corticoïdes. L’évolution clinique et biologique a été favorable dans les jours qui ont suivi la mise en route du traitement permettant une épargne cortisonique rapide.
Le tocilizumab semble un candidat très prometteur dans la prise en charge de la maladie de Horton, mais cette place devra être précisée par des études contrôlées.
Treatment of giant cell arteritis is based on prolonged corticosteroid therapy but adverse side effects are common especially in the elderly.
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.
Tocilizumab is a promising treatment of giant cell arteritis but controlled trials are needed to confirm its efficacy.
L’alpha thalassémie-syndrome myélodysplasique (ATSMD) est une complication possible associée à l’instabilité génétique des hémopathies clonales telles que les syndromes myélodysplasiques (SMD). Cette ...pathologie est caractérisée par la production d’une hémoglobine dite H constituée d’un tétramère de chaînes bêta du fait de l’incapacité à synthétiser des globines alpha.
Un patient de 86 ans avec une anémie chronique et microcytaire non carentielle, aggravait soudainement son anémie avec une anisocytose et une poïkilocytose marquées. L’examen cytologique de la moelle osseuse et le caryotype étaient en faveur d’un SMD avec dysplasie multilignée de bon pronostic. La coloration du sang périphérique au Bleu de Crésyl montrait des hématies « en balle de golf ». L’électrophorèse de l’hémoglobine montrait une hémoglobine H. Le diagnostic d’ATSMD était porté du fait d’une mutation non-sens du gène ATRX mise en évidence au séquençage de nouvelle génération.
L’association SMD, anémie microcytaire avec anisocytose et poïkilocytose doit faire évoquer le diagnostic de ATSMD, qui complique moins de 10 % des SMD.
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.
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.
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.
Des yeux de couleurs différentes Hinschberger, O.; Martzolff, L.; Mostoufizadeh, T. ...
La revue de medecine interne,
06/2012, Letnik:
33, Številka:
6
Journal Article
PDF
