Contributions
Abstract: P286
Type: Poster
Abstract Category: Clinical aspects of MS - 1 Diagnosis and differential diagnosis
Objective: Susac syndrome (SuS) is a rare, autoimmune-mediated, occlusive microangiopathy of the brain, inner ear, and retina, predominantly affecting young female patients. SuS is characterized by the clinical triad of encephalopathy with or without focal neurological signs, visual disorder due to branch retinal artery occlusions (BRAO), and vestibulo-cochlear deficits. Since clinical presentation, demographic aspects (such as age and gender) and diagnostic parameters (e.g. cranial magnetic resonance imaging (MRI) findings) may overlap, misdiagnoses as multiple sclerosis (MS), often occur. Our objective was to establish diagnostic criteria of either definite or probable SuS, to allow the earlier establishment of the correct diagnosis and initiation of an appropriate treatment and to facilitate the differentiation from MS.
Methods: The establishment of diagnostic criteria was based on the following three steps:
1) Definition of a reference group of 32 patients with an unambiguous diagnosis of SuS as assessed by the interdisciplinary experts of the European Susac Consortium (EuSaC) team;
2) Selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature.
3) Validation of the proposed criteria in the previously published cohort of all SuS cases reported until 2012.
Results: Integrating the clinical presentation and paraclinical findings, we propose formal diagnostic criteria and recommend a diagnostic workup to facilitate the diagnosis of SuS. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup.
Conclusion: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with SuS to make an early correct diagnosis, to prevent delayed therapies and to rule out important differential diagnoses such as MS.
Disclosure:
MR: received speaker honoraria from Novartis and Bayer Vital GmbH and travel reimbursement from Bayer Schering, Genzyme, Merz, Teva and Biogen Idec.
IK: received travel support and speaker honoraria from CSL Behring and receives a research grant (IMF grant “The pathophysiological role and clinical impact of the immune system in Susac syndrome” (KL111421)).
JD: Research support from Novartis and Bayer Healthcare, speaker honoraria from Novartis, Teva, Genzyme, Biogen, Allergan, Merck-Serono, and Bayer Healthcare, honoraria for advisory from Teva, Genzyme, Novartis, and Bayer Healthcare, travel support from Bayer Healthcare, Biogen, and Novartis.
CCG: The work of CCG has been funded by the German Research Foundation (Individual Research Grant “The role of natural killer cells in the immunoregulation of multiple sclerosis” (DFG, GR3946/2-1) and Collaborative Research Centre CRC 128 “Initiating/Effector versus Regulatory Mechanisms in Multiple Sclerosis - Progress towards Tackling the Disease” project A09), the Disease related Competence Network for Multiple Sclerosis (KKNMS) funded by the Federal Ministry of Education and Research (FKZ 01FI1603a), and the IMF grant “The pathophysiological role and clinical impact of the immune system in Susac syndrome” (KL111421). CCG received speaker honoraria and travel expenses for attending meetings from Genzyme, Novartis Pharma GmbH, and Bayer Health Care.
YB: nothing to disclose.
WS: nothing to disclose.
BS: nothing to disclose.
HL: nothing to disclose.
HWe: nothing to disclose.
JP: nothing to disclose.
NvK: nothing to disclose.
AA: nothing to disclose.
RG: RG has received research grants from Novartis, speaker honoraria from Novartis and Bayer health care and travel reimbursement from Bayer health care.
CJMF: nothing to disclose.
JLK: nothing to disclose.
SJ: nothing to disclose.
BW: nothing to disclose.
OA: nothing to disclose.
HPH: received grants from the Walter and Ilse Rose Foundation, the Eugène Devic European Network (EU-FP7) and the German Ministry of Education and Research, received honoraria for consultancy from Bayer Health Care, Biogen Idec, Geneuro, Genzyme, Medimmune, Novartis, Opexa, Receptos, Teva, Sanofi Aventis, and Hoffman La Roche and holds patents.
FP: supported by German Research Foundation (DFG exc257), BMBF Competence Network Multiple Sclerosis, EU FP7 Framework Program (combims.eu), Guthy Jackson Charitable Foundation, Arthur Arnstein Foundation; research support and personal compensation for activities with Alexion, Biogen, Chugai, Teva, Genzyme, Merckserono, Novartis, Bayer and Medimmune.
HWi: HWi is member of Scientific Advisory Boards/Steering Committees for Bayer Healthcare, Biogen Idec, Sanofi- Genzyme, Merck Serono, Novartis, Roche and Teva. He received speaker honoraria and travel support from Bayer Vital GmbH, Bayer Schering AG, Biogen, CSL Behring, EMD Serono, Fresenius Medical Care, Genzyme, Merck Serono, Omniamed, Novartis and Sanofi Aventis and Teva. He received compensation as a consultant from Biogen Idec, Merck Serono, Novartis, Omniamed, Roche and Sanofi-Genzyme. He has got research supports from Bayer Healthcare, Bayer Vital, Biogen Idec, Merck Serono, Novartis, Sanofi - Genzyme, Sanofi US and TEVA Pharma as well as German Ministry for Education and Research (BMBF), German Research Foundation (DFG), Else Kröner Fresenius Foundation, Fresenius Foundation, Hertie Foundation, Merck Serono, Novartis, NRW Ministry of Education and Research, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, RE Children's Foundation.
TD: received honoraria and travel expenses from Genzyme, Shire, Bristol-Myers Squibb, Boehringer-Ingelheim Pharma, Sanofi Aventis, Eisai, Novartis, Bayer Vital, Merz Pharma, Actelion, Lundbeck for serving as a speaker and consultant and research support from Genzyme, Shire and Actelion. For conducting of studies on dementia, TD received grants from Novartis and Merz Pharma.
Abstract: P286
Type: Poster
Abstract Category: Clinical aspects of MS - 1 Diagnosis and differential diagnosis
Objective: Susac syndrome (SuS) is a rare, autoimmune-mediated, occlusive microangiopathy of the brain, inner ear, and retina, predominantly affecting young female patients. SuS is characterized by the clinical triad of encephalopathy with or without focal neurological signs, visual disorder due to branch retinal artery occlusions (BRAO), and vestibulo-cochlear deficits. Since clinical presentation, demographic aspects (such as age and gender) and diagnostic parameters (e.g. cranial magnetic resonance imaging (MRI) findings) may overlap, misdiagnoses as multiple sclerosis (MS), often occur. Our objective was to establish diagnostic criteria of either definite or probable SuS, to allow the earlier establishment of the correct diagnosis and initiation of an appropriate treatment and to facilitate the differentiation from MS.
Methods: The establishment of diagnostic criteria was based on the following three steps:
1) Definition of a reference group of 32 patients with an unambiguous diagnosis of SuS as assessed by the interdisciplinary experts of the European Susac Consortium (EuSaC) team;
2) Selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature.
3) Validation of the proposed criteria in the previously published cohort of all SuS cases reported until 2012.
Results: Integrating the clinical presentation and paraclinical findings, we propose formal diagnostic criteria and recommend a diagnostic workup to facilitate the diagnosis of SuS. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup.
Conclusion: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with SuS to make an early correct diagnosis, to prevent delayed therapies and to rule out important differential diagnoses such as MS.
Disclosure:
MR: received speaker honoraria from Novartis and Bayer Vital GmbH and travel reimbursement from Bayer Schering, Genzyme, Merz, Teva and Biogen Idec.
IK: received travel support and speaker honoraria from CSL Behring and receives a research grant (IMF grant “The pathophysiological role and clinical impact of the immune system in Susac syndrome” (KL111421)).
JD: Research support from Novartis and Bayer Healthcare, speaker honoraria from Novartis, Teva, Genzyme, Biogen, Allergan, Merck-Serono, and Bayer Healthcare, honoraria for advisory from Teva, Genzyme, Novartis, and Bayer Healthcare, travel support from Bayer Healthcare, Biogen, and Novartis.
CCG: The work of CCG has been funded by the German Research Foundation (Individual Research Grant “The role of natural killer cells in the immunoregulation of multiple sclerosis” (DFG, GR3946/2-1) and Collaborative Research Centre CRC 128 “Initiating/Effector versus Regulatory Mechanisms in Multiple Sclerosis - Progress towards Tackling the Disease” project A09), the Disease related Competence Network for Multiple Sclerosis (KKNMS) funded by the Federal Ministry of Education and Research (FKZ 01FI1603a), and the IMF grant “The pathophysiological role and clinical impact of the immune system in Susac syndrome” (KL111421). CCG received speaker honoraria and travel expenses for attending meetings from Genzyme, Novartis Pharma GmbH, and Bayer Health Care.
YB: nothing to disclose.
WS: nothing to disclose.
BS: nothing to disclose.
HL: nothing to disclose.
HWe: nothing to disclose.
JP: nothing to disclose.
NvK: nothing to disclose.
AA: nothing to disclose.
RG: RG has received research grants from Novartis, speaker honoraria from Novartis and Bayer health care and travel reimbursement from Bayer health care.
CJMF: nothing to disclose.
JLK: nothing to disclose.
SJ: nothing to disclose.
BW: nothing to disclose.
OA: nothing to disclose.
HPH: received grants from the Walter and Ilse Rose Foundation, the Eugène Devic European Network (EU-FP7) and the German Ministry of Education and Research, received honoraria for consultancy from Bayer Health Care, Biogen Idec, Geneuro, Genzyme, Medimmune, Novartis, Opexa, Receptos, Teva, Sanofi Aventis, and Hoffman La Roche and holds patents.
FP: supported by German Research Foundation (DFG exc257), BMBF Competence Network Multiple Sclerosis, EU FP7 Framework Program (combims.eu), Guthy Jackson Charitable Foundation, Arthur Arnstein Foundation; research support and personal compensation for activities with Alexion, Biogen, Chugai, Teva, Genzyme, Merckserono, Novartis, Bayer and Medimmune.
HWi: HWi is member of Scientific Advisory Boards/Steering Committees for Bayer Healthcare, Biogen Idec, Sanofi- Genzyme, Merck Serono, Novartis, Roche and Teva. He received speaker honoraria and travel support from Bayer Vital GmbH, Bayer Schering AG, Biogen, CSL Behring, EMD Serono, Fresenius Medical Care, Genzyme, Merck Serono, Omniamed, Novartis and Sanofi Aventis and Teva. He received compensation as a consultant from Biogen Idec, Merck Serono, Novartis, Omniamed, Roche and Sanofi-Genzyme. He has got research supports from Bayer Healthcare, Bayer Vital, Biogen Idec, Merck Serono, Novartis, Sanofi - Genzyme, Sanofi US and TEVA Pharma as well as German Ministry for Education and Research (BMBF), German Research Foundation (DFG), Else Kröner Fresenius Foundation, Fresenius Foundation, Hertie Foundation, Merck Serono, Novartis, NRW Ministry of Education and Research, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, RE Children's Foundation.
TD: received honoraria and travel expenses from Genzyme, Shire, Bristol-Myers Squibb, Boehringer-Ingelheim Pharma, Sanofi Aventis, Eisai, Novartis, Bayer Vital, Merz Pharma, Actelion, Lundbeck for serving as a speaker and consultant and research support from Genzyme, Shire and Actelion. For conducting of studies on dementia, TD received grants from Novartis and Merz Pharma.