La prise en charge des poussées de sclérose en plaques en 2016

National audienceIntroduction Jusqu’à présent, il était habituel de traiter les poussées de sclérose en plaques (SEP) par fortes doses de méthylprednisolone administrées en perfusion à l’hôpital ou à domicile. La question de l’efficacité et de la tolérance des corticoïdes par voie orale est restée débattue pendant les deux dernières décennies. Objectifs L’étude Corticothérapie orale dans le traitement des poussées de SEP (COPOUSEP) a été pensée pour tester l’hypothèse de non-infériorité de la voie orale par rapport à la voie intraveineuse, tenant compte des avantages de la voie orale (simplification de la procédure, amélioration du confort des patients et économies évidentes). Le design de l’essai prenait en compte les limites des études antérieures. Résultats COPOUSEP est le premier essai randomisé, en double insu, de non-infériorité, incluant 200 patients en poussée depuis moins de 15 jours, à confirmer que la méthylprednisolone 1 gramme par jour pendant 3 jours n’est pas moins efficace par voie orale que par voie intraveineuse sur la récupération à 1 et 6 mois ainsi que sur les récidives dans les 6 mois, la tolérance étant similaire en dehors d’une insomnie plus fréquente par voie orale. Discussion La simplification du traitement des poussées de SEP, grâce au recours à la voie orale, pourrait conduire à « banaliser » le diagnostic de poussée, mais elle doit être validée par un neurologue ainsi que l’indication des corticoïdes. Afin d’encadrer cette pratique par une éducation thérapeutique, le réseau SEP-Bretagne a rédigé des documents d’information destinés aux patients et aux professionnels impliqués, (neurologues et médecins généralistes) ciblant le rôle de chacun. Conclusion Le traitement des poussées de SEP (lorsqu’elles le justifient) peut désormais reposer sur l’administration d’un gramme de méthylprednisolone par jour pendant 3 jours par voie orale, mais doit être encadré par les neurologues et coordonné avec les médecins généralistes

Developing tools to evaluate quality of care management for patients living with multiple sclerosis: An original French initiative

International audienceINTRODUCTION: Assessing the quality of care management for patients with a chronic disease such as multiple sclerosis (MS) is a major challenge for healthcare systems around the world. It needs to be carried out using tools that are recognized by professionals and patients alike, and should concern practices, systems, and scientific data. No such tools are currently available in Europe. The purpose of the present study was to develop indicators to contribute to assess the quality of care management for patients with MS in France. METHODS: An expert panel comprising 25 professionals from well known teams across France selected the indicators on the basis of consensus. In accordance with the Rand/UCLA Appropriateness Method, each expert had to agree with the recommendations, and there had to be agreement among the experts. RESULTS: The expert panel selected 48 indicators representing seven domains of care management for patients with MS: physical and rehabilitation medicine, disease progression, access to care, magnetic resonance imaging (MRI) management, relapse management, management of disease-modifying treatments, and management of the symptoms of disability progression. Some of these quality indicators (notably pertaining to MRI management) had not previously been identified in the literature. CONCLUSION: These indicators may allow professionals to comprehensively assess and compare their practices and cooperation, thereby contributing to improve the quality of care management for patients with MS in France

Formes cavitaires de sclérose en plaques : étude multicentrique sur vingt patients [Cavitary lesions in multiple sclerosis: multicenter study on twenty patients].

International audienceCavitary white matter changes are mainly described in leukodystrophies and especially in vanishing white matter disease. Large cavitary lesions are not typical for multiple sclerosis (MS).We studied MS patients with large cavitary brain lesions. Patient characteristics, disease onset/duration/subtype, expanded disability status scale (EDSS), mini mental state (MMS), vanishing white matter disease genetic analysis, and MRI characteristics of the cavitary lesions were analyzed.Twenty patients were analyzed (6 men and 14 women). Mean age at disease onset was 37.6 (range 17-58). Mean disease duration was 10 years (range 2-20). Five patients had initial relapsing-remitting MS and nine patients had primary-progressive MS. Mean EDSS was 5.5 (range 2-8). Mean MMS was 20/30. Vanishing white matter disease genetic analysis was performed and negative in seven patients. Inferior corpus callosum lesions were seen in all patients with available sagittal FLAIR sequences. Cavitary lesions were strictly supratentorial, and located inside the diffuse leukoencephalopathy, with often a posterior predominance.MS patients with large cavitary lesions seem to represent a MS subgroup, predominantly women, with relatively late disease onset, predominantly primary-progressive type, relatively high EDSS scores, and severe cognitive dysfunction

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients

Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patients with acquired diseases were excluded. Magnetic resonance imaging analysis identified three groups (vascular, cavitary and non-vascular/non-cavitary) in which distinct genetic and/or biochemical testing were realized. One hundred and fifty-four patients (male/female = 60/94) with adult-onset leukoencephalopathies were identified. Mean age of onset was 38.6 years. In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, n = 32) and COL4A1 mutation, n = 7]. In the cavitary group, 13/17 (76%) patients had a diagnosis of EIF2B-related disorder. In the third group (n = 82), a systematic biological screening allowed a diagnosis in 23 patients (28%) and oriented direct genetic screening identified 21 additional diseases (25.6%). Adult-onset genetic leukoencephalopathies are a rare but probably underestimated entity. Our study confirms the use of a magnetic resonance imaging-based classification with a final diagnosis rate of 64% (98/154) cases