Abstract Details

Title Screening for differential diagnoses in MS: Evaluation of inclusion criteria for extensive diagnostic workup

Topic Multiple Sclerosis

Presentation(s) P8 - Poster Session 8 (11:45 AM-12:45 PM)

Poster/Presentation
Number 12-002

Objective To develop, apply and assess screening criteria for extended diagnostic workup in MS patients for improved detection of alternative disease cause.

Background McDonald criteria aid diagnosis in syndromes typical for MS related demyelination. Failure to identify rare alternative diagnoses, however, remains a problem associated with serious risks and potential morbidity.

Design/Methods For two years, we surveyed patients attending our clinic and performed tests in those with MS or NMOSD fulfilling at least one of the following criteria: normal cerebrospinal fluid (CSF) in RRMS; primary progressive disease (PPMS); normal visual evoked potentials in patients with relapsing remitting MS (RRMS) of at least five years duration; magnetic resonance imaging results fulfilling no more than one Barkhof criterion or showing non-typical configuration; absence of NMOSD-associated antibodies in NMOSD. We reviewed charts and completed testing for relevant infectious causes, vasculitis/collagenosis and hypovitaminosis, if not performed. We tested chitotriosidase activity (CA) and cholestantriol concentration (CC) typical of Niemann-Pick disease Type C (NPC) and screened for genetic mutations associated with leukodystrophies by applying a next-generation sequencing (NGS) panel.

Results 58 patients met inclusion criteria (29 RRMS, 25 PPMS). Median age was 49 years and median EDSS 3.5. Serology for infectious causes was negative. Positive titers of antinuclear antibodies were found in 12 of 34 patients, positive anti-neutrophil cytoplasmic antibody titers in four of 35 patients. Concentrations of vitamin B12 were below reference in one PPMS patient and folate was low in four. CA was repeatedly above reference in two patients with PPMS and CC repeatedly elevated in two PPMS patients and one RRMS. Nucleotide variations (in COL4A1, NPC1, NOTCH3, PDE8B) were found in four PPMS patients and one RRMS patient with normal CSF.

Conclusions Normal CSF and PPMS best justify extended diagnostic workup in patients with MS. NGS yielded most additional findings.

Authors/Disclosures
Clemens Goedel, MD (University Hospital Leipzig) PRESENTER	Dr. Goedel has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Florian Then Bergh, MD (University of Leipzig, Klinik u. Poliklinik fuer Neurologie)	Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Horizon. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Actelion. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Bayer. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Genzyme. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Fresenius. Dr. Then Bergh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Merck. Dr. Then Bergh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Takeda. The institution of Dr. Then Bergh has received research support from Actelion. The institution of Dr. Then Bergh has received research support from Novartis. The institution of Dr. Then Bergh has received research support from DFG (German Science Fund). The institution of Dr. Then Bergh has received research support from Fresenius. The institution of Dr. Then Bergh has received research support from Diamed. Dr. Then Bergh has received personal compensation in the range of $10,000-$49,999 for serving as a Member of the Institutional Ethics Board with University of Leipzig, Medical Faculty.

��ɫ��

��ɫ��