Borisow N, Fischer K, Wernecke KD, Wegner B, Hellwig K, Pache F, Ruprecht K, Havla J, Krumbholz M, Kümpfel T, Aktas O, Hartung HP, Ringelstein M, Geis C, Kleinschnitz C, Berthele A, Hemmer B, Angstwurm K, Stellmann JP, Schuster S, Stangel M, Lauda F, Tumani H, Mayer C, Zeltner L, Ziemann U, Linker R, Schwab M, Marziniak M, Then Bergh F, Hofstadt-van Oy U, Neuhaus O, Winkelmann A, Marouf W, Faiss J, Wildemann B, Paul F, Jarius S, Trebst C; Neuromyelitis Optica Study Group.

BACKGROUND: Gender and age at onset are important epidemiological factros influencing prevalence, clinical presentation, and treatment response in autoimmune diseases. OBJECTIVE: To evaluate the impact of female sex and fertile age on aquaporin-4-antibody (AQP4-ab) status, attack localization, and response attack treatment in patients with neuromyelitis optica (NMO) and its sprectrum disorders (neuromeyelitis optica spectrum disorder (NMOSD)). METHODS: Female-to-male-ratios, diagnosis at last visit (NMO vs NMOSD), attack localization, attack treatment, and outcome were compared according to sex and age at disease or attack onset. RESULTS: A total of 186 NMO/SD patients (82% female) were included. In AQP4-ab-positive patients, female predominance was most pronounced during fertile age (female-to-male-ratio 23:1). Female patients were most likely to be positive for AQP4-abs (92% vs 55%). Interval between onset and diagnosis of NMO/SD was longer in women than in men (meand 54 vs 27 months). In women, attacks occuring under 40 years of age were more likely to show complete remission and better response to high-dose intravenonous steroids compared to women at over 40 years. CONCLUSION: Our date suggest an influence of sex and age on susceptibility to AQP4-ab-positive NMO/SD. Genetic and hormonal factors might contribute to pathophysiology of NMO/SD.

Mult Scler. 2016 Oct 6;23(8):1092-1103

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