Nationwide screening for Fabry disease in unselected stroke patients.

BACKGROUND AND AIMS: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients. METHODS: A prospective nationwide study including 35 (78%) of all 45 stroke centers and all consecutive stroke patients admitted during three months. Clinical data were collected in the RES-Q database. FD was diagnosed using dried blood spots in a stepwise manner: in males-enzymatic activity, globotriaosylsphingosine (lyso-Gb3) quantification, if positive followed by GLA gene sequencing; and in females GLA sequencing followed by lyso-Gb3. RESULTS: 986 consecutive patients (54% men, mean age 70 years) were included. Observed stroke type was ischemic 79%, transient ischemic attack (TIA) 14%, intracerebral hemorrhage (ICH) 7%, subarachnoid hemorrhage 1% and cerebral venous thrombosis 0.1%. Two (0.2%, 95% CI 0.02-0.7) patients had a pathogenic variant associated with the classical FD phenotype (c.1235_1236delCT and p.G325S). Another fourteen (1.4%, 95% CI 0.08-2.4) patients had a variant of GLA gene considered benign (9 with p.D313Y, one p.A143T, one p.R118C, one p.V199A, one p.R30K and one p.R38G). The index stroke in two carriers of disease-associated variant was ischemic lacunar. In 14 carriers of GLA gene variants 11 strokes were ischemic, two TIA, and one ICH. Patients with positive as compared to negative GLA gene screening were younger (mean 60±SD, min, max, vs 70±SD, min, max, P = 0.02), otherwise there were no differences in other baseline variables. CONCLUSIONS: The prevalence of FD in unselected adult patients with acute stroke is 0.2%. Both patients who had a pathogenic GLA gene variant were younger than 50 years. Our results support FD screening in patients that had a stroke event before 50 years of age.

Decompressive surgery for malignant supratentorial infarction remains underutilized after guideline publication.

Decompressive surgery <48 h from stroke onset reduces the prevalence of mortality and morbidity from malignant supratentorial infarction. We investigated if utilization of decompressive surgery changed in the Czech Republic (CZ) after the release of new guidelines regarding treatment of malignant brain infarction. The volume of decompressive surgery in 2009 in all centers in the CZ was assessed using the same methodology as in 2006. All neurosurgery departments in the CZ were asked to complete a questionnaire and asked to identify all cases of decompressive surgery for malignant brain infarction through a combination of discharge codes for "brain infarction" and "decompressive surgery" from electronic hospital charts. Data for 56 patients were obtained from 15 of the 16 neurosurgery departments in the CZ. The average age was 53 ± 13; number of males 20; median time to surgery was 48 h (range 24-62); median NIHSS score was 25 (IQR, 20-30); median infarct volume was 300 cm(3) [interquartile (IQR, 250-350)]; mean shift on CT was 10.6 ± 3.6 mm and size of hemicraniectomy was 125 cm(2) (IQR, 110-154). A favorable outcome was achieved in 45% of the patients. The number of procedures increased from 39 in 2,006 to 2,056 in 2009. Based on data from one stroke center, 10% suffered from malignant supratentorial infarction and 2.3% met the criteria for decompressive surgery. In 2009, as compared to 2006, the volume of decompressive surgery carried out moderately increased. However, procedures remained underutilized because only ~10% of those who needed decompressive surgery underwent surgery.

Nationwide study of decompressive surgery for malignant supratentorial infarction in the Czech Republic: utilization and outcome predictors. Clinical article.

OBJECT: Decompressive surgery within 48 hours in patients younger than 60 years of age reduces mortality and morbidity from malignant supratentorial infarction. The goal of this study was to characterize the utilization of decompressive surgery in the Czech Republic in 2006. METHODS: This nationwide study was undertaken from September to December 2007 using a questionnaire sent to all neurosurgery departments in the Czech Republic. Diagnosis of brain infarction and decompressive surgery was based on discharge codes. Patient data were retrieved from hospital charts. Favorable outcome was defined as a modified Rankin scale score ≤4 on the day of discharge from the hospital. RESULTS: Data were obtained from 15 of the 16 neurosurgery departments in the Czech Republic (94%) and from 39 patients (11 female [28%]). The average patient age was 52 +/-14 years (11 patients > 60), median time to surgery was 48 hours (interquartile range [IQR] 26-67 hours; 15 patients > 48 hours), median National Institutes of Health Stroke Scale score was 22 (IQR 16-30), median infarct volume was 341 cm³ (IQR 243-375 cm³), mean shift from the midline was 9.9 +/- 4.1 mm, median duration of hospitalization was 19 days (IQR 13-30 days), and mean bone flap surface area was 75 cm² (IQR 70-97 cm²). A favorable outcome was achieved in 19 patients (49%). The median number of procedures per site in 2006 was 1.5 (range 0-13 procedures). Five sites (31%) serving one-third of the entire population did not perform any decompressive surgery. No variable was a significant predictor of outcome in a multiple regression model. CONCLUSIONS: In 2006 decompressive surgery was underutilized and occurred late in the clinical course in the Czech Republic. Revision of national guidelines is necessary to incorporate the latest data and ensure that the patients who can benefit most receive treatment.