PREVISTA - FABRY
PREVISTA - FABRY is a screening program developed within the structure of the main PREVISTA study that will be carried on in male patients. Women will be also screened if they have any previously specified Fabry symptoms.
Estimates on the prevalence of classic Fabry disease vary from 1 in 40000 to 1 in 117000. The prevalence of Fabry disease in young patients with cryptogenic stroke was reported to be as high as 4.9% in men and 2.4% in women. However, these data arise from very few studies and are still controversial. Moreover, Fabry disease may be more frequent than classically reported.
Though life expectancy is reduced to a median of 50 to 57 years for the male population of patients with Fabry, atypical late-onset variants have been described among patients with chronic renal failure and hypertrophic cardiomyopathy. Despite these findings, there are no studies specifically reporting on late-onset variants of Fabry disease presenting with neurological symptoms. Moreover, studies assessing the prevalence of Fabry disease among stroke patients have been focused on cryptogenic events and/or occurring in young individuals.
We hypothesize that atypical late-onset variants of Fabry disease are underdiagnosed in stroke patients. This assumption is based on a previous study reporting a deficient α-galactosidase A activity in up to 1% of 1000 patients ≤ 60 years with non-cryptogenic cerebrovascular disease. In this study, a 59 year-old patient with TIA and deficient α-galactosidase A activity was reported.
The objective of the present screening program is to assess the prevalence of Fabry disease among a Latin-American population-based stroke cohort of male patients.
Fabry Disease Screening Program
Every male patient and only women with suggestive questionnaires will undergo assessment of α-galactosidase A activity in in dried blood spot . The accuracy of α-galactosidase A enzyme activity assays using dried blood spot is comparable with leukocyte assays . Exonic DNA α-galactosidase A sequencing will be done for males with decreased α-galactosidase A enzyme activity detected by dried blood spot tests 21, . All diagnostic tests will be performed blinded to case identity.
Innovative & Beneficial Aspects of this Screening Program
- Expanding the scope of diagnosis of Fabry disease by including older patients with non-cryptogenic cerebrovascular disease.
- As more patients will be diagnosed with Fabry disease, there will be a direct benefit for them and potentially for their families.
- Assessing the prevalence of Fabry disease among a Latin-American population-based stroke study.
- Raising awareness about Fabry disease.