BackgroundFabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy.ObjectiveTo estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy.MethodsThe patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased.ResultsA total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation.ConclusionIn a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).

A longer time from symptom onset to hospitalisation was associated with an increased number of mechanical complications. Timely reperfusion therapy prevented mechanical complications and no significant difference was found between thrombolysis and primary percutaneous coronary intervention.

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A prior history of stroke/TIA and/or PAD was associated with lower use of medical therapy and coronary revascularization and with worst short-term prognosis. An individualized management may improve their poor prognosis.

ObjectiveTo assess seizure control and tolerability of eslicarbazepine acetate (ESL) as adjunctive therapy to one baseline antiepileptic drug (AED), in adults with partial‐onset seizures (POS) with or without secondary generalization.MethodsMulticenter, non‐interventional, prospective cohort study conducted between March 2012 and September 2014 at 12 neurology departments in Portugal. Adults with POS not controlled with one AED who had initiated ESL as adjunctive treatment were enrolled. Retention rate was defined at the final visit (Vfinal) 6‐9 months of follow‐up. Proportion of responders, seizure‐free, changes in seizure frequency were evaluated using patients' diaries. Clinical Global Impression of Change (CGI‐C) and Clinical Global Impression of Severity (CGI‐S) were assessed by the neurologist.ResultsFifty‐two patients (48.1% male) were included with mean age 41.5±13.3 years. Mean epilepsy duration was 18.5±14.8 years; mean seizure frequency in the four previous weeks to baseline was 7.5±12.7. At Vfinal, retention rate was 73.0%; responder rate and seizure‐free rates were 71.1% and 39.5%, respectively. The median relative reduction in seizure frequency between baseline and Vfinal was 82.2%. A reduction in epilepsy severity (CGI‐S) was observed in 42.1%. According to CGI‐C, 73.6% patients had their epilepsy “much improved” or “very much improved”. Twelve patients (23.1%) had at least one adverse event (AE), two (3.9%) had one serious AE, and five (9.6%) discontinued due to AE.ConclusionsEslicarbazepine acetate showed good retention rates, elicited a significant reduction in seizure frequency, and was well tolerated when used in the clinical practice.

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