Natural history of relapsing remitting multiple sclerosis in a long-lasting cohort from a tertiary MS centre in Portugal.

BACKGROUND: Several disease-modifying therapies (DMTs) have emerged in the last two decades for the treatment of multiple sclerosis (MS). The increasing use of these therapies has enhanced the need to study its impact on long-term disease progression and on the natural history of MS. This study aimed to characterize a Portuguese MS patient cohort in what concerns the natural history of disease by exploring differences throughout 3 decades. METHODS: Longitudinal, retrospective, non-interventional study. Patients aged ≥ 18 years old, with confirmed diagnosis of relapsing-remitting MS (RRMS), were included. Biodemographic and clinical characteristics (MS diagnosis, patient follow-up, relapses, treatment, and exams) were assessed and compared according to the first appointment date throughout 10-year spans (1987-1996; 1997-2006; 2007-2016). RESULTS: 548 patients were included in this analysis. Significant differences were observed between decades for evoked potential (EP) and cerebrospinal fluid (CSF) exams conducted at diagnosis, the first with less expression on the last decade; the median number of relapses per year (higher in the subgroup 07-16); EDSS at baseline and at last appointment (both higher in the subgroup 87-96); and the percentage of patients achieving EDSS 3.0 and EDSS 6.0 (increased in the subgroup 87-96). Additionally, time from diagnosis to first treatment was significantly lower in patients from the most recent decade, and a greater percentage of such patients, compared to the other two subgroups, was, at last appointment, under a second line DMT. CONCLUSION: In general, our study reflects findings from longitudinal studies on MS progression already published in the literature. In recent years, the growing number of more effective DMTs, along with earlier disease detection, and improvements in access to healthcare appear to have had a positive impact on patients' access to treatment and, consequently, disease progression. Additional studies, with increased follow up time, are needed to further investigate the effect of treatment improvement in the natural history of MS.

Chorea, Pruritus and Polycythemia: Looking for Clues.

Chorea is a movement disorder usually due to vascular, hereditary, metabolic or drug-induced causes, and has rarely been reported in association with polycythemia vera (PV). Polycythemic chorea is an uncommon clinical entity that occurs more often in elderly women. PV is a treatable cause of chorea and must be considered during the diagnostic approach. We report the case of a 75-year-old woman with involuntary movements of the mouth and face with subsequent involvement of the trunk and limbs who was admitted for investigation of the chorea. The patient had the haematological attributes of PV and a positive mutation in the janus kinase 2 (JAK2) gene, and was therefore treated with hydroxyurea which led to a marked reduction in the chorea and improvement in haematological parameters. Various aetiologies of chorea must be considered in the elderly. The present case illustrates the importance of considering PV in the differential diagnosis, since its treatment leads to chorea resolution, thus avoiding serious complications. LEARNING POINTS: Polycythemia vera is a sporadic myeloproliferative disorder of the haematopoietic stem cells and is a treatable cause of chorea.Chorea is a movement disorder with various aetiologies that is difficult to diagnose.Prompt treatment of polycythemia vera will lead to resolution of the chorea, with aspirin and phlebotomy being recommended in low-risk cases and hydroxyurea in high-risk cases.