Demographics and Clinical Assessment of Familial Multiple Sclerosis Patients in Ain Shams University Hospitals

Abstract Background Multiple sclerosis (MS) is the most seen demyelinating disease. The exact cause of MS is still uncertain; many genes significantly increase the disease susceptibility along with several well-defined environmental factors. Genetic factors play an important role in the pathogenesis and clinical presentations of MS. Aim of the Work This study aims to detect the prevalence of familial multiple sclerosis among Egyptian patients suffering from MS at Ain Shams University hospitals, to register the demographics and the clinical characteristics of familial multiple sclerosis patients and to demonstrate the effect of inheritance on the severity and progression. Patients and Methods This study aimed to detect the prevalence of familial multiple sclerosis among Egyptian patients suffering from MS at Ain Shams University hospitals, to register the demographics and the clinical characteristics of familial multiple sclerosis patients and to demonstrate the effect of inheritance on the severity and progression. The current study showed that the prevalence of familial multiple sclerosis among MS Egyptian at Ain Shams University hospitals was 6,4%. Female to male percentages were found to be (73.8%) to (26.2%) respectively. Results The mean age of onset among the FMS cases was found to be (26.1±7.8). The mean time elapsed between symptoms onset and diagnosis was found to be (19.9±34.0) months and it was found that time from disease onset to MS diagnosis is significantly shorter in the 2nd and 3rd family-members diagnosed in familial cases compared to 1st family member diagnosed with MS. Regarding focality of presentation at the first attack, in this study there was found that monofocal presentation was more common than multifocal presentation (64.4%). The current study also showed that affection of the pyramidal functional system is significantly the most frequent in cases with an affected relative of first degree while it was least frequent in cases with an affected relative of third-degree consanguinity. Sensory affection in the first attack was the most common functional system affected. Most of the familial MS cases showed relapsing remitting pattern of the disease (76.6%) that was followed by SPMS (20.9%) and the least frequent form was PPMS (2.3%) with no significant relation between the degree of consanguinity between the relatives affected within the same family and the pattern of progression of the disease. Conclusion The number of exacerbations per year in the studied cases was 0.9±0.8 and the mean MSSS of the studied cases was (4.9±2.5) and there were significant agreement between type in cases and relatives indicating that the presence of a family member diagnosed with a certain MS clinical phenotype can be a predictor to the clinical phenotype in the patient calling for special consideration to the choice of treatment for the patient.