Format

Send to

Choose Destination
J Stroke Cerebrovasc Dis. 2018 Mar;27(3):575-582. doi: 10.1016/j.jstrokecerebrovasdis.2017.09.045. Epub 2017 Nov 11.

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

Author information

1
Hospital Británico, Buenos Aires, Argentina. Electronic address: rcreisin@intramed.net.
2
Hospital Británico, Buenos Aires, Argentina.
3
Hospital Posadas, Haedo, Argentina.
4
Fundación Favaloro, Buenos Aires, Argentina.
5
FLENI, Buenos Aires, Argentina.
6
INAREPS, Mar del Plata, Argentina.
7
Sanatorio Parque, Tucumán, Argentina.
8
Hospital Durand, Buenos Aires, Argentina.
9
SanatorioParque, Rosario, Argentina.
10
Sanatorio Adventista, Entre Rios, Argentina.
11
IIFP, Universidad Nacional de La Plata y CONICET, Facultad Ciencias Exactas, La Plata, Argentina.
12
Instituto Roffo-UBA, Buenos Aires, Argentina.
13
Academia de Medicina, Buenos Aires, Argentina.
14
Hospital Británico.
15
Hospital de Clínicas.
16
Hospital Presidente Peron.
17
Fundación Favaloro.
18
FLENI.
19
Hospital Posadas.
20
Hospital Roffo.
21
Sanatorio Mitre.
22
INAREPSMar del Plata.
23
Hospital Zubizarreta.
24
Hospital Tornú.
25
CEMIC.
26
Hospital Durand.
27
Academia Nacional de Medicina.
28
Hospital de Vicente López.
29
Hospital Español.
30
Hospital San Martín.
31
Hospital Municipal de Campana.
32
Sanatorio Parque Tucumán.
33
CENAC Rosario.
34
Sanatorio Parque Rosario.
35
Sanatorio Adventista del Plata.

Abstract

BACKGROUND:

Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina.

METHODS:

This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females).

RESULTS:

We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G.

CONCLUSIONS:

FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.

KEYWORDS:

Fabry disease; cerebrovascular disease; mutations; stroke; young

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center