CEREBROVASCULAR MANIFESTATIONS OF FABRY DISEASE: A STUDY OF 12 PATIENTS

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Amélia Mendes (Author) Other; D. Seixas (Author) Other; Virginia Mendes (Author) Other; M.A.Basto (Author) Other; J.P.Oliveira (Author) Other; Elsa Azevedo (Author) FMUP

Journal

Title: Cerebrovascular Diseases

Vol. 22 No. 2

Pages: 77-77

ISSN: 1015-9770

Publisher: Karger

Indexing

Pubmed / Medline

Scientific classification

CORDIS: Health sciences > Neuroscience > Neurology

Other information

Abstract (EN): Background: Fabry disease (FD) is a rare metabolic lysosomal disorder in which a deficiency of alpha galactosidase A enzyme activity leads to accumulation of glycosphingolipids, mainly in vascular endothelial and smooth-muscle cells. Cerebrovascular disease (CVD) is a major manifestation of FD. A beneficial impact of enzyme replacement therapy (ERT) on FD related CVD has not yet been conclusively demonstrated and careful neurological follow up is strongly recommended. We describe the results of this follow-up in a series of FD patients (pts). Methods: We have prospectively evaluated 12 (5 males) FD pts from 4 different families with classic FD phenotype. FD had been diagnosed at the mean ages of 19.0y in males and 34.4y in females. All pts had a comprehensive neurological clinical evaluation and underwent cervical and transcranial vascular ultrasound and brain magnetic resonance imaging (MRI) with angiography. Results: Median ages at evaluation were 23y (range: 21-48) for males and 44y (range: 26-54) for females. Six pts had acroparesthesias, 2 hypohidrosis and 8 abdominal complaints. Angiokeratomas were present in 7, cornea verticillata in 9, cardiac involvement in 3 and renal manifestations in 7. Eight pts had non-specific headaches and 2 females had psychiatric disorders. None of the pts reported previous stroke, although 1 female had a mild right upper limb paresis. Eight pts (3 females) were on ERT. Brain MRI showed ischaemic lesions, mostly in white matter, in the only male and in 2 of the 3 females aged >45y. Two males (mean age: 35.5y) and 4 females (mean age: 47y) had tortuous and/or dilated intracranial arteries. Discussion: These data are consistent with the known natural history and manifestations of CVD in FD pts. MRI is a sensitive method to screen for the typical ischaemic brain lesions and structural arterial changes associated with FD, including in pts without overt stroke. Arterial changes were present since the 3rd decade of life. Despite X-linked inheritance, the prevalence of cerebrovascular lesions in heterozygous females aged >35y is high.

Language: Portuguese

Type (Professor's evaluation): Scientific