Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study

• Published in: Multiple sclerosis and related disorders Vol. 56; p. 103258
• Main Authors: Santos, Ernestina, Rocha, Ana Luísa, Oliveira, Vanessa, Ferro, Daniela, Samões, Raquel, Sousa, Ana Paula, Figueiroa, Sónia, Mendonça, Teresa, Abreu, Pedro, Guimarães, Joana, Sousa, Raquel, Melo, Cláudia, Correia, Inês, Durães, Joao, Sousa, Lívia, Ferreira, João, de Sá, João, Sousa, Filipa, Sequeira, Marta, Correia, Ana Sofia, André, Ana Luísa, Basílio, Carlos, Arenga, Marta, Mendes, Irene, Marques, Inês Brás, Perdigão, Sandra, Felgueiras, Helena, Alves, Ivânia, Correia, Filipe, Barroso, Cândida, Morganho, Armando, Carmona, Cátia, Palavra, Filipe, Santos, Mariana, Salgado, Vasco, Palos, Adelaide, Nzwalo, Hipólito, Timóteo, Angela, Guerreiro, Rui, Isidoro, Luís, Boleixa, Daniela, Carneiro, Paula, Neves, Esmeralda, Silva, Ana Martins, Gonçalves, Guilherme, Leite, Maria Isabel, Sá, Maria José
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.11.2021
• Subjects: Adult; Aquaporin 4; Autoantibodies; Clinical; Epidemiologic Studies; Epidemiological; Female; Humans; Myelin-Oligodendrocyte Glycoprotein; Neuromyelitis Optica - epidemiology; Neuromyelitis optica spectrum disorders; Portugal; Portugal - epidemiology; Portugal; Clinical; Epidemiological; Neuromyelitis optica spectrum disorders; Portugal
• ISSN: 2211-0348; 2211-0356
• DOI: 10.1016/j.msard.2021.103258

•A total of 180 Portuguese patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative.•Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD.•A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD.•Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.•Although it is a rare disorder, the significant number of patients we found justifies the existence of reference centers, favouring clinical assessment and treatment by teams with growing and accumulated experience. Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries