Osman Mir, MD
Current knowledge of genomics of stroke has dramatically increased in recent time. Stroke poses a huge burden of disability on society. This is especially true for stroke survivors who are young in age. Stroke in the young although less prevalent, is nevertheless even more devastating due to high probability of long term survival with disability. Stroke in the young can have different than traditional risk factors. This is where genomics of stroke has made an impact. Following this in this journal of stroke Rolfs et al did a study of role of Fabry disease – an α-Galactosidase A gene defect resulting in the accumulation of glycosphingolipids – in stroke in the young. This is done in a cohort of multicenter European Stroke In Young Fabry Patients study (sifap) as a prospective observational study. Rolfs et al found that a small subset of stroke in the young patients upto 0.5% roughly 27 out of 5023 patients had definite Fabry’s disease which was defined as either significantly reduced biochemical activity of AGLA or presence of a causative mutation or in those cases with massive increase of at least two independent biochemical markers. Another additional 18 patients 0.4 % were diagnosed as Probable Fabry’s disease. Most common type of stroke in Fabry’s disease patients was Ischemic Stroke. Another interesting finding was that in younger group 18-34 there were more females however when the age group 35-55 there were more males. The largest group was “undetermined etiology” comprising 33.4% of all patients, being more common among females than males (38.0% versus 30.5%) and becoming less frequent in older patients. Contrary to expectations though the other etiologies were more or less similar to conventional populations studied. Other etiologies were in similar ranges (13.5% to 18.7%) of which large-artery atherosclerosis and small-vessel disease were more common among males and both more prevalent in older patients, whereas cardioembolism was equally common between genders.
This study had several strengths especially since it is prospective cohort which had standardized extensive investigation including MRI and hypercoaguable work up. Also this was a multi center study with a broad population base in multiple different countries. Also Rolfs et al used advanced molecular testing for rare etiologies. This study highlights the future of work up for stroke not only in young but probably in all patients in whom stroke is of unknown etiology. Another highpoint of this study was difficulty of establishing the diagnosis of Fabry’s disease despite extensive work up it was only definite in 0.5% and probable in 0.4%. Maybe there was another subgroup which was difficult to identify despite comprehensive work up.