P2490 - Autoimmune Autonomic Ganglionopathy Presenting as Constipation

Abdelwahab Ahmed, MD¹, Shannon Zoulek, MD², Abdel-Rahman Mohamed, BS³, Sarah Russell, MD⁴, Suraj Suresh, MD⁴, Eva Alsheik, MD⁴, Keith Mullins, MD^4
1McGaw Medical Center of Northwestern University, Detroit, MI; ²University of Michigan, Ann Arbor, MI; ³Wayne State University School of Medicine, Detroit, MI; ⁴Henry Ford Hospital, Detroit, MI

Introduction: Autoimmune autonomic ganglionopathy (AAG) is a rare disease with a variety of manifestations. Here, we present the case of a patient with seronegative AAG who was diagnosed 10 months after an initial presentation to the general GI clinic. The patient initially presented with severe constipation and eventually had clinical improvement after target therapy was started.

Case Description/Methods: A 56-year-old woman presented to the gastroenterology clinic with severe constipation. She had no significant medical history. Her severe constipation was associated with weakness, nausea, weight loss, and urinary symptoms, including urinary and defecation urgency and straining for the past several weeks.
The patient was referred to the general GI clinic after multiple visits to the emergency department (ED) for the symptoms mentioned above. In the ED, the patient displayed orthostatic hypotension upon examination. An abdominal X-ray performed at the time was concerning for focal ileus (Figure 1).
The colonic transit study revealed diffuse colonic hypomotility/inertia (Figure 2). Anorectal manometry was significant for rectal hypersensitivity, elevated baseline rectal and anal sphincter pressures upon maximum squeeze and bear down exercises, and type IV pelvic floor dysfunction (Figure 3). The patient was then given an autonomic reflex screen test, which was positive. Her anti-gAChR antibody assay was negative.

Discussion: AAG is a rare disorder of the autonomic nervous system caused by antibodies against gAChR, resulting in failure of the sympathetic, parasympathetic, and enteric systems. Middle-aged women are the population most frequently diagnosed with AAG. Approximately half of all AAG patients are found to have antibodies against gAChR. For patients who are seronegative for anti-gAChR antibodies, it is hypothesized that other antibodies may cause autonomic dysfunction. Our patient presented with several weeks of worsening constipation and other autonomic symptoms and was found to have negative gAChR serology. Her symptoms were attributed to her past diagnosis of sensorimotor peripheral neuropathy, and this diagnosis was not changed to AAG until 10 months after her presentation to the general GI clinic. Because AAG presents with a variety of symptoms, physicians must understand its clinical presentation.

Recognizing AAG in the differential diagnosis for patients with GI dysfunction associated with autonomic symptoms is critical, especially because effective treatment options exist.


Figure: Figure1. Abdominal X-ray revealing a focal dilated gas-filled loop of small bowel in the left hemiabdomen measuring up to 3.0 cm, possibly reflecting focal ileus.
Figure 2. Colonic transit study displaying 24 Sitzmarks present throughout the entire colon uniformly indicative of diffuse colonic hypomotility/inertia.
Figure 3. Anorectal manometry.


Disclosures:
Abdelwahab Ahmed indicated no relevant financial relationships.
Shannon Zoulek indicated no relevant financial relationships.
Abdel-Rahman Mohamed indicated no relevant financial relationships.
Sarah Russell indicated no relevant financial relationships.
Suraj Suresh indicated no relevant financial relationships.
Eva Alsheik indicated no relevant financial relationships.
Keith Mullins indicated no relevant financial relationships.


Abdelwahab Ahmed, MD¹, Shannon Zoulek, MD², Abdel-Rahman Mohamed, BS³, Sarah Russell, MD⁴, Suraj Suresh, MD⁴, Eva Alsheik, MD⁴, Keith Mullins, MD⁴. P2490 - Autoimmune Autonomic Ganglionopathy Presenting as Constipation, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.