Serologic profiles aiding the diagnosis of autoimmune gastrointestinal dysmotility.
OBJECTIVE
Autoimmune gastrointestinal dysmotility is a limited autoimmune dysautonomia occurring idiopathically or in the context of an anatomically remote neoplasm, previously documented or unsuspected. Here we report 24 Mayo Clinic patients in whom the profile of serum autoantibodies aided this diagnosis.


METHODS
All patients were ascertained serologically in the course of service evaluation for autoantibodies consistent with neurologic autoimmunity. Review of their histories, motility studies, and laboratory findings revealed that all had presented with subacute gastrointestinal dysmotility.


RESULTS
Recorded motility abnormalities included esophageal dysmotility 8 (6 had achalasia), delayed gastric emptying 12, slow small intestinal transit 7, slow colonic transit 4, and pelvic floor dyssynergia 4. Four patients underwent abdominal surgery; 2 commenced total parenteral nutrition. Plasma membrane cation channel autoantibodies were detected in 23 patients: neuronal voltage-gated calcium channel (5 N-type and 1 P/Q-type), acetylcholine receptor (11 ganglionic-type and 4 muscle-type), and neuronal voltage-gated potassium channel autoantibodies (4). Two patients had antineuronal nuclear autoantibodies, type 1. Approximately half of the patients had neural autoantibodies (including skeletal muscle striational and glutamic acid decarboxylase, 65kd isoform) or other antibody markers of organ-specific autoimmunity (thyroid or gastric parietal cell specificities). Neoplasia was diagnosed in 11 patients (9 recent, 2 remote): lung, breast and endometrial, gastrointestinal and thymoma. Moderate to dramatic improvement in gastrointestinal symptoms was reported after immunotherapy in 4 of 4 patients treated and after pyridostigmine treatment in 2 of 2 patients treated.


CONCLUSIONS
Autoimmune serology aids the diagnosis of autoimmune gastrointestinal dysmotility, both paraneoplastic and idiopathic, and might guide management.
Dhamija
Radhika
R
Department of Immunology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Tan
K Meng
KM
Pittock
Sean J
SJ
Foxx-Orenstein
Amy
A
Benarroch
Eduardo
E
Lennon
Vanda A
VA
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001323:Autoantibodies / Q000097:blood*; D001327:Autoimmune Diseases / Q000150:complications* / Q000175:diagnosis* / Q000276:immunology; D001342:Autonomic Nervous System Diseases / Q000150:complications* / Q000175:diagnosis* / Q000276:immunology; D003937:Diagnosis, Differential; D015154:Esophageal Motility Disorders / Q000209:etiology; D005260:Female; D005746:Gastric Emptying / Q000502:physiology; D005769:Gastrointestinal Motility; D005772:Gastrointestinal Transit / Q000502:physiology; D006801:Humans; D007167:Immunotherapy; D007410:Intestinal Diseases / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications; D012698:Serologic Tests
D001323:Autoantibodies