Razi Hospital
Neurology and LR18SP03

Author Of 1 Presentation

Genetics and Epigenetics Poster Presentation

P0518 - Clinical and outcome characteristics in familial Multiple Sclerosis (ID 386)

Presentation Number
P0518
Presentation Topic
Genetics and Epigenetics

Abstract

Background

Background:

Multiple Sclerosis (MS) clearly results from complex interactions between genetic and environmental factors. Most MS cases are sporadic. However, familial cases were reported, ranging between 2% and 32.7% of patients with MS. Nowadays, it’s still unclear whether heredity affects the phenotype and severity of the disease.

Objectives

Our aim was to compare clinical and outcome characteristics of MS between familial from and sporadic form to evaluate the imapct of heredity in the disease phenotype and course

Methods

We conducted a retrospective study including MS patients followed in the Department of Neurology in Razi hospital (Tunis, Tunisia). We identified two groups: Familial MS (fMS) with history of first or second degree relative affected by MS and sporadic MS (sMS) with no family history of MS. Clinical characteristics were analyzed from a local MS database. Disability assessment was based on expanded disability status scale (EDSS). Multiple Sclerosis Severity Score (MSSS) was calculated using conversion table based on EDSS score and duration of disease in years.

Results

We included 55 fMS patients and 459 sporadic cases. MS patients with familial form had an older age at onset compared to sMS group (31.6 versus 29.9; p = 0.03). Relapsing form were predominant in the 2 groups (87.6% in group 1 and 78.3% in group 2; p= 0.131). First relapses were more often sensory (41% versus 34%, p= 0.3) and visual (34% versus 26%, p= 0.23) in the fMS. Annual relapse rate was comparable in the 2 groups (0.8 versus 0.86; p=0.5). Mean EDSS scores were lower in the familial MS group at first evaluation (p=0.1), at 3 years (p=0.34) and 5 years (p=0.25) after disease onset. Mean time to reach EDSS 3 and EDSS 6 was longer in the familial form compared to the sporadic form (respectively {9.3 versus 8.7; p= 0.85} {18.4 versus 10.8; p= 0.02}). MSSS scores were similar in the 2 groups (5.16 versus 5.25 ; p=0.83).

Conclusions

We found an older age at onset and a less aggressive disease outcome in fMS compared to sMS. Interestingly, these findings confirm the substantial differences between familial and sporadic forms also in this North African population. However, they are in contrast with previous Caucasians and Latin American studies.

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