Contributions
Abstract: EP1336
Type: ePoster
Abstract Category: Clinical aspects of MS - 5 Epidemiology
Introduction: Little is known about familiar Multiple Sclerosis (MS). It seems that MS appears earlier in familiar forms with an anticipation of age from older generations to younger ones within a family. In this study we characterize the familiar MS cohort from our hospital and compare clinical and imaging findings with non-familiar patients.
Methods: From 656 MS patients, 31 (4.7%) presented one or more relatives with the disease
(11 families). We compared this group (1) with 66 age and sex-matched patients with non-familiar MS (group 2), regarding: subtype, age of onset, time from onset to diagnosis, initial syndrome and Expanded Disability Status Scale (EDSS) score, Multiple Sclerosis Severity Score (MSSS) and first Magnetic Resonance Imaging (MRI) data. In group 1 we also analysed MS age of onset between different generations. In the statistic analyses, significant differences were considered for p< .05 and marginally significant for p< .10.
Results: The female/male ratio was 2:1 in both groups, the mean age of onset was 31.2 and 34.5 years in groups 1 and 2, respectively, the most common subtype of MS was relapsing-remitting (group 1, 83.9%; group 2, 77.3%); these differences were not significant. The time between onset and diagnosis was similar in both groups (2-3 years) and sensory symptoms were the most frequent onset complains. For familiar cases, the most common form of kinship was between first degree relatives: siblings (38.7%) and parent-child (22.6%). A marginally significant difference was found when testing for anticipation of disease in younger vs. older generation (p=0.066). Initial EDSS was significantly lower for familiar cases (p=.024) while no differences were found in MSSS. At initial MRI, the group 1 had significantly less infratentorial involvement (p=.013) and less contrast enhancing lesions (p=.019).
Discussion: As reported in the literature, our study´s familiar cases had younger age at onset than sporadic MS, although this difference didn't reach statistical significance. As reported by others, there seems to be a propensity of anticipation of MS and a milder initial disability in familiar cases. However no differences were observed in MSSS or progression to Secondary Progressive form between groups. We also found a milder lesion burden at initial MRI. If this is part of a genetic contribute or if family cases are more aware of MS symptoms leading to an earlier diagnosis, is still an intriguing question.
Disclosure:
Daniela Ferro: Nothing to disclose
Mafalda Seabra: Nothing to disclose
Teresa Mendonça: Nothing to disclose
Jorge Reis: Nothing to disclose
Joana Guimarães: Nothing to disclose
Pedro Abreu: Nothing to disclose
Edgar Mesquita: Nothing to disclose
Maria José Sá: Nothing to disclose
Abstract: EP1336
Type: ePoster
Abstract Category: Clinical aspects of MS - 5 Epidemiology
Introduction: Little is known about familiar Multiple Sclerosis (MS). It seems that MS appears earlier in familiar forms with an anticipation of age from older generations to younger ones within a family. In this study we characterize the familiar MS cohort from our hospital and compare clinical and imaging findings with non-familiar patients.
Methods: From 656 MS patients, 31 (4.7%) presented one or more relatives with the disease
(11 families). We compared this group (1) with 66 age and sex-matched patients with non-familiar MS (group 2), regarding: subtype, age of onset, time from onset to diagnosis, initial syndrome and Expanded Disability Status Scale (EDSS) score, Multiple Sclerosis Severity Score (MSSS) and first Magnetic Resonance Imaging (MRI) data. In group 1 we also analysed MS age of onset between different generations. In the statistic analyses, significant differences were considered for p< .05 and marginally significant for p< .10.
Results: The female/male ratio was 2:1 in both groups, the mean age of onset was 31.2 and 34.5 years in groups 1 and 2, respectively, the most common subtype of MS was relapsing-remitting (group 1, 83.9%; group 2, 77.3%); these differences were not significant. The time between onset and diagnosis was similar in both groups (2-3 years) and sensory symptoms were the most frequent onset complains. For familiar cases, the most common form of kinship was between first degree relatives: siblings (38.7%) and parent-child (22.6%). A marginally significant difference was found when testing for anticipation of disease in younger vs. older generation (p=0.066). Initial EDSS was significantly lower for familiar cases (p=.024) while no differences were found in MSSS. At initial MRI, the group 1 had significantly less infratentorial involvement (p=.013) and less contrast enhancing lesions (p=.019).
Discussion: As reported in the literature, our study´s familiar cases had younger age at onset than sporadic MS, although this difference didn't reach statistical significance. As reported by others, there seems to be a propensity of anticipation of MS and a milder initial disability in familiar cases. However no differences were observed in MSSS or progression to Secondary Progressive form between groups. We also found a milder lesion burden at initial MRI. If this is part of a genetic contribute or if family cases are more aware of MS symptoms leading to an earlier diagnosis, is still an intriguing question.
Disclosure:
Daniela Ferro: Nothing to disclose
Mafalda Seabra: Nothing to disclose
Teresa Mendonça: Nothing to disclose
Jorge Reis: Nothing to disclose
Joana Guimarães: Nothing to disclose
Pedro Abreu: Nothing to disclose
Edgar Mesquita: Nothing to disclose
Maria José Sá: Nothing to disclose