E0149 - Fecal Incontinence Due to Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Aidan J. David, ¹, Brian M. Fung, MD², Sailaja Pisipati, MBBS, FRCS³, Joseph David, MD^2
1Case Western Reserve University, Chandler, AZ; ²University of Arizona College of Medicine, Phoenix, AZ; ³Mayo Clinic, Scottsdale, AZ

Introduction: Fecal incontinence, or the accidental passing of solid or liquid stool, is a common condition that occurs in up to 15% of the Western population and significantly impairs quality of life. Common causes of fecal incontinence include structural damage to the anal sphincter, fecal impaction, rectal prolapse, and neurologic impairment (e.g. diabetes, stroke). In the following report, we describe a case of fecal incontinence caused by Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a rare hereditary neurological disorder of the cerebral vessels that causes recurrent ischemic strokes and progressive loss of cognitive function.

Case Description/Methods: A 66-year-old Caucasian male with a 15-year history of CADASIL presented to clinic for evaluation of fecal incontinence. He reported that his symptoms began approximately 18 months earlier and improved over time, but then recurred with urinary incontinence and persistent worsening 6 months prior to presentation. He denied having any abdominal pain, unintentional weight loss, rectal bleeding, or history of rectal trauma. He was up to date on screening colonoscopy. On digital rectal exam, the patient was noted to have normal resting tone and diminished sphincter squeeze; there was no evidence of mass, rectal prolapse, or hemorrhoids. Upon review of his prior imaging, it was noted that he had severe small vessel ischemic changes in his brain with multiple infarcts, but no spinal cord compression. He declined anorectal manometry. Given the clinical picture, it was concluded that the patient’s incontinence was due to recurrent strokes secondary to CADASIL.

Discussion: Fecal incontinence occurs in up to 40% of patients immediately after stroke. Treatment strategies focus on hygiene and skin protection, regulation of stool consistency, and pelvic floor physical therapy. CADASIL is characterized by multiple, recurrent strokes. Fecal incontinence in these patients is predictive of mortality, with one study showing 72% of patients experiencing fecal incontinence at time of death. Multiple cortical regions of the brain have been shown to be important in controlling the anal sphincter suggesting redundancy of function, which may explain why the presence of persistent fecal incontinence can be a marker of late-stage CADASIL. Our case report highlights the importance of clinical recognition of a rare disease as a potential cause of a common symptom.


Disclosures:


Aidan J. David, ¹, Brian M. Fung, MD², Sailaja Pisipati, MBBS, FRCS³, Joseph David, MD². E0149 - Fecal Incontinence Due to Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL), ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.