FRI0269 “if it's not multiple sclerosis, look for a connective tissue disease”: atypical demyelinating disorders referred to a tertiary rheumatology centre
Authors: A Fanouriakis, K Voumvourakis, M Papathanasiou, T Doskas, T Karageorgas, D Tseronis, D Kassara, A Erden, P Katsimbri, D Boumpas
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> Central nervous system (CNS) demyelination is the hallmark of multiple sclerosis (MS), but may rarely occur in connective tissue diseases (CTD), mainly systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS). <h3>Objectives</h3> To examine whether patients with demyelinating syndrome and atypical features for MS may exhibit an underlying connective tissue disease. <h3>Methods</h3> Patients referred to the Rheumatology and Clinical Immunology Unit of "Attikon" University Hospital for a demyelinating disorder characterized as "atypical for MS" following neurologic evaluation, were included in the study. All cases were discussed with a neurologist with expertise in MS and CNS magnetic resonance imaging were assessed by an experienced neuroimagist. Cases included either i) a clinical syndrome suggestive of a demyelinating process (demyelinating optic neuropathy, myelopathy, internuclear opthalmoplegia etc.) and/or ii) abnormal imaging of the central nervous system (CNS) with features suggestive of demyelination (ie. presence of supra- and infratentorial lesions, periventricular location, gadolinium enhancement, Dawson9s fingers, hypointense T1-lesions ("black holes"), "dirty" white matter). Patients with brain lesions in MRI more compatible with non-specific white matter hyperintensities (WMHI, ie. of possible ischemic/microvascular etiology) were excluded from the study. <h3>Results</h3> 21 patients were included in the study [all women, mean (SD) age at first neurologic manifestation 37.7 (10.6) years]. 17 patients had MRI findings of a demyelinating process in the CNS (brain lesions only in 7, spinal cord lesions only in 4 and both brain and spinal cord lesions in 5 patients); WMHI or normal findings were found in 4 patients with optic neuritis. In this selected group of patients, detailed rheumatologic evaluation revealed clinical and laboratory findings suggestive of a CTD in all patients. The most common findings were: arthritis (80.5%), Raynaud9s phenomenon (42.8%), photosensitivity (38.1%), malar rash/erythema (33.3%), livedo reticularis (23.8%) and leukopenia (23.8%). Antinuclear antibodies were positive in two-thirds of patients (66.7%), anti-Ro/La in 19.0% and aPL only in one patient (4.8%). Final diagnoses were undifferentiated CTD, in 10 patients, frank SLE in 9 patients, primary obstetric APS and RA, in one patient each. After a median (range) follow-up of 3 (1–14) years, three patients fulfilled the criteria for MS and received MS-specific therapy, thus were subsequently classified as having an overlap of two diseases. <h3>Conclusions</h3> CNS lesions suggestive of demyelination on MRI must be distinguished from non-specific lesions of microvascular etiology. In cases of demyelinating syndromes not fulfilling criteria for MS, features of an underlying CTD, suggestive of SLE, are frequently found. A small percentage of patients may go on to develop frank MS during follow-up, thus longitudinal monitoring is necessary. <h3>References</h3> Differential diagnosis of suspected multiple sclerosis: a consensus approach. Miller DH, Weinshenker BG, Filippi M, et al. Multiple Sclerosis 2008; 14: 1157–1174. <h3>Disclosure of Interest</h3> None declared