Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

Abstract

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. Methods: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living. Results: 80% (n = 46/56) of patients reported LUTS, 64% (n = 38/59) reported bowel symptoms and 83% (n = 30/36) reported sexual symptoms. Urinary and bowel or sexual symptoms were significantly likely to co-exist among patients. Late-onset FRDA patients were also more likely to report LUTS than early-onset ones. Patients with a longer disease duration reported higher LUTS scores and poorer quality of life scores related to urinary symptoms.

Nonataxia symptoms in Friedreich Ataxia

“…This demonstrates the importance of these measures to also investigate first abnormalities and that, again, underdiagnoses cannot be excluded, as data from the present study came from medical history rather than direct assessment. A recent study with a specific questionnaire to FRDA patients showed that up to 80% of patients reported lower urinary tract disorders, 64% bowel symptoms, and 83% sexual symptoms; here urinary dysfunctions were more frequent in late-onset FRDA patients and on those with longer disease duration (Lad et al, 2017). 49 We did not find other pathologies to be overrepresented in our FRDA cohort compared to estimates in the general population.…”

“…A recent study with a specific questionnaire to FRDA patients showed that up to 80% of patients reported lower urinary tract disorders, 64% bowel symptoms, and 83% sexual symptoms; here urinary dysfunctions were more frequent in late-onset FRDA patients and on those with longer disease duration (Lad et al, 2017). 49 We did not find other pathologies to be overrepresented in our FRDA cohort compared to estimates in the general population. Of note, in a similar American cohort of 641 patients with FRDA, 10 patients (1.6%) had inflammatory bowel disease, a 3.5 times higher prevalence than in the general population, 50 but we could not confirm this finding.…”

Autonomic function testing in Friedreich’s ataxia

“…Autonomic symptoms in FRDA have received little attention so far. Clinical studies in genetically confirmed populations reported a high prevalence of urinary symptoms and a recent report suggested that pelvic symptoms (urinary, sexual and lower gastrointestinal symptoms) tend to co-occur in FRDA [ 10 ]. Constipation was not systematically addressed, but in a report on FRDA associated with FXN exonic deletion, 3 out of 6 patients had a history of ileus [ 20 ].…”

“…On the other hand, we strengthened our findings by means of an extensive screening procedure and accurate patient characterization in a cohort of genetically confirmed FRDAs. Notably, in most of previous studies potential confounders such as vitamin deficiency or impaired glucose intolerance, which may per se cause an autonomic neuropathy, were not considered [ 10 , 11 , 27 ]. Moreover, the lack of validated scales precluded correlations with disease severity.…”

“…Clinically, disturbances of temperature perception and vasomotor disturbances of lower extremities have been documented in FRDA [ 8 , 9 ], as well as a high prevalence of urinary symptoms [ 10 ]. Concerning autonomic function, an earlier study reported normal cardiovascular autonomic findings in a cohort of FRDA patients diagnosed according to the clinical criteria of Harding [ 11 ].…”