Abstract Details

Title Multiple Sclerosis and Fabry Disease

Topic MS and Related Diseases

Presentation(s) P02 - (-)

Poster/Presentation
Number 103

Objective

Background BACKGROUND: FD is a rare, X-linked inherited disorder that results from a deficiency of the lysosomal hydrolase ?-galactosidase A and mutations in the GLA gene. MS and FD share symptomatology and MRI findings, therefore FD should be considered in the differential diagnosis of MS.

Design/Methods DESIGN/METHODS: We evaluated the ?-galactosidase A enzyme activity in 154 patients with a previous diagnosis of MS (93 women and 61 men): 103 were Relapsing Remitting MS patients, 19 were progressive MS patients and 32 had clinical isolated syndrome; EDSS=2.1±2 (0-8.5). Seventy-five percent of the patients were on MS disease-modifying therapy. Enzyme assay was performed on dried blood spots samples and the GLA was sequenced when enzyme activity was lower than 50% of the healthy controls in males and 75% in females. Genetic sequencing was performed on a DNA ABI 310 Sequence Analyzer. Statistical analysis was performed with the SPSS software and outcomes were correlated with the present clinical features.

Results RESULTS: The proportion of ?-galactosidase A activity was significantly lower among MS female patients as compared to males ([Pi]2=8.7; p=0.003). Genetic testing was performed in 37 women and in 8 of them genetic mutations were found. After a thorough clinical and familial examination no organic disease was found in any of the classical target organs and we considered all possible mutations as polymorphisms. We found no significant difference when comparing the variables studied in MS and the results of the enzyme determinations.

Conclusions CONCLUSIONS: Based on the results of this large study on FD in patients with MS we can conclude that FD should be considered in the differential diagnosis of MS in patients with dermatological, renal or cardiac damage.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
Pilar Larrode Pellicer, MD	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Cristina Iniguez, MD	No disclosure on file
David H. Margolin, MD, PhD (Genzyme Corporation)	Dr. Margolin has received personal compensation for serving as an employee of uniQure, Inc.. Dr. Margolin has stock in Cerevance, Inc. Dr. Margolin has stock in Datacubed Health. Dr. Margolin has stock in uniQure, Inc.. Dr. Margolin has received intellectual property interests from a discovery or technology relating to health care.

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