ABSTRACT
Anderson-Fabry disease (AFD) is an X-linked recessive lysosomal disease caused by alpha-galactosidase A (alpha-gal) deficiency, causing progressive glycosphingolipid storage in various organ systems. Headache is a frequent symptom. Cerebral magnetic resonance imaging (MRI) often shows multiple white matter lesions (WML), like those seen in patients affected by migraine, in particular with aura (MA). To our knowledge, there are no reports about the prevalence of AFD in patients with MA. The objective of the study was to determine AFD prevalence, as assessed by alpha-gal activity and genetic tests, in MA patients. We evaluated 73 consecutive patients followed by the Headache Centre of our Department with a diagnosis of MA. They were screened for migraine characteristics and cerebrovascular risk factors. Gaseous contrast transcranial Doppler was used to diagnose right-to-left shunt and MRI to detect WML. All patients underwent blood test to evaluate peripheral alpha-gal activity and to identify alpha-gal gene mutations. Of 73 consecutive screened subjects (59 females, 14 males; mean age 38.3 +/- 11.8 years), the known GLA pathologic mutation p.[Asp313Tyr] was found in a 38-year-old woman, with a history of MA, deep venous thrombosis and abdominal pain. Cerebral MRI showed small WML. This is the first study reporting AFD prevalence in a cohort of MA patients. We found a relatively high prevalence (about 1.37%) among the examined patients, even if this finding needs to be confirmed in a larger sample. Despite this high prevalence, it seems not necessary to screen systematically all MA patients for AFD, but since it is a treatable genetic disorder, it is worthwhile to consider it for the subgroup of patients presenting WML and other typical AFD symptoms.
Subject(s)
Fabry Disease/epidemiology , Migraine with Aura/epidemiology , Adult , Comorbidity , Fabry Disease/diagnostic imaging , Fabry Disease/genetics , Female , Humans , Male , Middle Aged , Migraine with Aura/diagnostic imaging , Mutation , Prevalence , Ultrasonography, Doppler, Transcranial , alpha-Galactosidase/geneticsABSTRACT
Subjects with migraine with aura (MA) have a high prevalence of white matter lesions (WMLs) on magnetic resonance imaging (MRI). Moreover, right-to-left shunt (RILES), mainly due to patent foramen ovale, is frequently associated with MA. The aim of this study was to clarify the relationship between RILES and WML in MA. We enrolled 87 consecutive subjects affected by MA. Patients were screened for migraine characteristics and cerebrovascular risk factors. Transcranial Doppler was used to diagnose RILES and MRI with T2-weighted and diffusion-weighted imaging (DWI) to evaluate presence, number and volume of WMLs. RILES was present in 45% of patients. We did not detect any DWI hyperintense lesion; WMLs were present in 61% of patients on T2-weighted images. Presence of WMLs did not correlate with any migraine clinical feature, whereas the presence, number and volume of WMLs increased with subjects' age. There was no significant difference in the total volume and number of WMLs in the group with and without RILES. In conclusion, RILES does not increase the likelihood of finding WMLs in migraineurs.
