Moyamoya vasculopathy – Patient demographics and characteristics in the Finnish population

Abstract

Background and purpose Moyamoya vasculopathy, a rare steno-occlusive progressive cerebrovascular disorder, has not been thoroughly studied in Caucasian populations. We established a registry of Finnish patients treated at the Helsinki University Hospital, to collect and report demographic and clinical data. Methods We collected data both retrospectively and prospectively from all the patients with a moyamoya vasculopathy referred to our hospital between January 1987 and December 2014. All patients underwent a neurological outpatient clinic visit. Results We diagnosed 61 patients (50 females, 10 children) with moyamoya vasculopathy. The mean age at the disease-onset was 31.5 ± 17.9 years. The two most common presenting symptoms were ischemic stroke (n = 31) and hemorrhage (n = 8). Forty-four percent underwent revascularization surgery, and 70% were prescribed antithrombotic treatment. Conclusions The results support in part the Western phenotype of the disease considering the later presentation and larger female predominance compared to the Asian moyamoya vasculopathy reports. However, the proportion of ischemic strokes and hemorrhagic strokes is closer to Japanese population than German population. The absence of familial cases points to a different genetic profile in the Finnish patients.

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

“…At a preliminary analysis of our MA series, although the comparison with previous European and American series is difficult, due to the lack and incompleteness of previously collected data, we confirmed a similar age of onset and the higher female predominance, with a female/male ratio more comparable to the German and American [12,24,25] rather than to the Finnish population. The occurrence of ischemic and hemorrhagic stroke and clinical features frequency was alike, except for a modest increase rate of headache and seizures [12,15,25] (Table 2).…”

“…Particularly, data on MA in Western countries, hereby mostly in Europe are lacking. Although a similar phenotype between the US and European patients has been described, the rarity of the disease in Europe, the lack of systematic studies, the multi-ethnic origin, and the heterogeneity of the studied cohorts further impair the acquisition of clear information on clinical feature and disease progression in Europeans [12][13][14][15][28][29][30][31][32]. The identification of clinical and imaging predictors is necessary to improve a prognostic evaluation and develop innovative therapeutic approaches.…”

“…Poor understanding of the disease determinants limited so far advances in the clinical care and the development of innovative and personalized treatment. Until date, no [12,15] A m e r i c a n [ 24,25] Chinese [5] Japanese [26] Korean [27] (n = 98) (n = 153) (n = 61) (n = 7473) (n = 94) (n = 470) (n = 941) (n = 175) Age at onset 33 treatment has been identified to impair or slow the development of stenotic process and fragile collaterals. The direct or indirect revascularization surgery is considered as the best therapeutic option to reduce the occurrence of cerebrovascular events [11].…”

“…The GEN-O-MA project is, to our knowledge, the first Italian Network and one of the largest Europeans studies [12][13][14][15] published so far. The objective of this network, which is integrated with other large European clinical centers involved in MA study, is to describe the clinical phenotype and identify disease progression markers of MA by applying a careful clinical and neuroradiological evaluation.…”

“…In addition, factors influencing the variable severity of the clinical course are still unknown due to the limited prospective literature data in non-operated cases [1,11]. These data are much more limited in western populations [12][13][14][15].…”