Study Suggests Screening for GI Issues in Hereditary Spastic Paraparesis Patients

APRIL 18, 2018
Mathew Shanley
A survey recently conducted among adults with hereditary spastic paraparesis (HSP) showed that constipation, alternate constipation and diarrhea, fecal incontinence (FI), and voiding dysfunction are among the considerable problems faced by the patient population.

Results from the survey, “Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis,” were recently published in the Orphanet Journal of Rare Diseases.1

Core symptoms of HSP typically include lower limb spasticity and urinary voiding dysfunction, and more complex variations of the condition can involve additional neurological features. Beyond those characteristics, the burden of adults with HSP is largely unknown, but it has often been believed that gastrointestinal functions, fecal incontinence, and urinary symptoms could also be afflicting the indication.

Øivind J. Kanavin and Krister W. Fjermestad of the Frambu Centre for Rare Disorders in Siggerud, Norway conducted a cross-sectional self-report survey with 108 adult HSP patients recruited from a national HSP user group association and a national (non-clinical) advisory unit for rare disorders. The average age of patients evaluated was 57.7 years, with a range of 30 to 81 years. 54.2% (n=59) of evaluated patients were female.

HSP data were compared to data from HUNT-3, a Norwegian epidemiological population study that enrolled more than 46,000 individuals.

The survey was based on 19 items, each of which was also covered in HUNT3. Ten items covered urinary problems (e.g., frequency of daytime/nighttime urination); 6 covered gastrointestinal issues (e.g., frequency of diarrhea, constipation); and 3 addressed bowel symptoms (e.g., frequency of FI).

The HSP group reported more gastrointestinal and urinary complaints versus controls. Gastrointestinal complaints included complaints with constipation (14.6%) and alternating constipation/diarrhea (8.0%), and at least daily uncontrollable flatulence (47.6%), FI (11.6%), and inability to hold back stools (38.5%). Urinary complaints included frequent urination (27.4% > 8 times daily), sudden urge (51.9%) and urinary incontinence (30.5% at least daily/nightly).

According to the survey results, there were gender differences within the HSP sample. For example, more women reported bloating and alternating constipation and diarrhea compared to men, and functional gastrointestinal disorders are generally reported to occur more often among women. Within the HSP sample, women more frequently reported both urge FI and stress urinary incontinence, which is known to be an independent risk factor for FI.

Study authors conclude that health care providers should screen and manage often unrecognized gastrointestinal and fecal incontinence complaints among HSP patients.

  1. Kanavin ØJ, Fjermestad KW. Gastronintestinal and urinary complaints in adults with hereditary spastic paraparesis. Orphanet Journal of Rare Diseases. 2018: 13:58.

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