Multiple Sclerosis Center, ATS Sardegna, University of Cagliari

Author Of 1 Presentation

Diagnostic Criteria and Differential Diagnosis Poster Presentation

P0262 - Searching for Fabry disease in previously diagnosed CIS and defined MS patients: a cohort study. (ID 1693)

Speakers
Presentation Number
P0262
Presentation Topic
Diagnostic Criteria and Differential Diagnosis

Abstract

Background

Fabry disease (FD) is a rare panethnic x-linked lysosomal storage disorder that can mimic MS, and thus must be considered in differential diagnosis. While clinical profile and MRI studies can overlap, some other considerations help distinguish them, like presence of CSF oligoclonal bands and medullary demyelinating lesions for MS and multi-organ involvement and positive familiar history for FD. In our center a patient was diagnosed with MS in 2004, and with FD in 2015, due to in depth-analysis following the clue of a positive family history.

Objectives

To identify the possible presence of unacknowledged FD in a cohort of Italian patients previously diagnosed with CIS or MS.

Methods

We enrolled consecutive CIS and MS patient that fulfilled McDonald revised criteria referred to our center. In female subjects, the GLA gene was analyzed by PCR and sequencing of the entire coding region. In male subjects the concentration of the alpha-galactosidase enzyme in dry blood spot was measured with fluorescence spectroscopy. For these purposes we used Centogene diagnostic kit for Fabry disease.

Results

411 patients (300 females) were enrolled, 21 with a diagnosis of CIS and 390 with definite MS, mean age 45.5 years (SD:12.0), mean disease duration 15.3 years (SD:10.1), mean EDSS 2.5 (SD:1.9). No one of them presented pathogenic mutations of GLA gene or alpha-galactosidase deficiencies.

Conclusions

Although the diagnosis of FD must be ruled out when studying a patient with suspected MS, the systematic genetic or enzymatic analysis of every patient doesn’t appear necessary in everyday clinical practice. The analysis of GLA gene and of alpha-galactosidase activity should be reserved for patients with elements suspicious for FD, like a positive family history and multi organ involvement (especially renal impairment and angiokeratomas). Our patient with both the diagnosis, other than positive family history, later developed proteinuria as systemic dysfunction; she also showed demyelinating lesions on brain and spinal cord MRI, sometimes with Gadolinium enhancement, and intrathecal synthesis of oligoclonal bands (type 3). Clarifying the correct diagnosis is of fundamental importance due to the different therapeutic approaches.

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