Abstract Details

Title The Evolving Spectrum of Gastrointestinal Dysfunction in Stiff Person Syndrome

Topic Autoimmune Neurology

Presentation(s) Autoimmune Neurology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 067

Objective

To characterize the prevalence and phenotype(s) of gastrointestinal (GI) dysfunction in a large cohort of stiff person syndrome (SPS).

Background

SPS is a rare neuroimmunological disorder with a wide spectrum of clinical features. Many SPS patients report GI symptoms, however, current literature is limited regarding the prevalence and type of GI symptoms in SPS. Given a known direct physiological association of GABA activity and the enteric nervous system, further characterization of GI dysfunction in SPS is warranted.

Design/Methods

Retrospective chart review of SPS patients seen at the Johns Hopkins SPS center from 1997 to 2020. Patients were included if they reported GI symptoms and had specific descriptors of symptoms in their medical records. Additionally, details of formal GI testing were extracted for review. Descriptive statistics reported.

Results

Of 211 individuals diagnosed with SPS, 53 (25%) reported GI symptoms. The majority were female (85%), Caucasian (70%), and had a median age of 57 ± 13 years. Most common symptoms reported were dysphagia (45%), constipation (40%), nausea/vomiting (23%), and weight loss (17%). Over half of patients (36/53 [68%]) underwent at least one GI test with most obtaining at least one test related to possible dysmotility; dysphagia (64%) and constipation (48%) being the main reasons for referral. Motility testing in over half of the 25 patients tested demonstrated evidence of upper GI (28%), lower GI (16%), or diffuse GI dysmotility (20%). The remaining patients (32%) were without obvious signs of dysmotility and one patient had unknown results.

Conclusions GI symptoms commonly occur in SPS and motility testing in this population reveals a wide spectrum of GI tract involvement. Hence, it would be prudent to have a low threshold for motility testing in patients with SPS especially in those experiencing dysphagia and/or constipation. Further studies may identify correlation of GI dysfunction with disease course and response to treatment.

Authors/Disclosures
Jacqueline Koshorek, DO (HonorHealth Neurology) PRESENTER	Dr. Koshorek has nothing to disclose.
	No disclosure on file
Maria I. Reyes-Mantilla, MD (Johns Hopkins University, Neurology)	Dr. Reyes-Mantilla has nothing to disclose.
	No disclosure on file
Yujie Wang, MD (UW Northwest)	Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. The institution of Dr. Wang has received research support from Genentech. The institution of Dr. Wang has received research support from uniQure. The institution of Dr. Wang has received research support from NIH/NINDS.
Scott D. Newsome, DO, FAAN (Johns Hopkins Hospital)	Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics. The institution of Dr. Newsome has received research support from Biogen. The institution of Dr. Newsome has received research support from Genentech/Roche. The institution of Dr. Newsome has received research support from Department of Defense. The institution of Dr. Newsome has received research support from Patient Centered Outcomes Research Institute. The institution of Dr. Newsome has received research support from National MS Society. The institution of Dr. Newsome has received research support from Lundbeck. The institution of Dr. Newsome has received research support from Sanofi. The institution of Dr. Newsome has received research support from Kyverna Therapeutics. Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving as a Lead PI for Clinical Trial with Roche.

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