Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

Background: X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers. Methods: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS). Results: Forty-eight patients participated, 19 males (mean EDSS score (n = 16) 5.0 (95% CI ± 1.03)) and 29 females (mean EDSS score (n = 25) 3.2 (95% CI ± 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n = 19) and females (86.2%, n = 25). There was no significant gender difference in severity of OAB symptoms (P = 0.35) and impact on quality of life (P = 0.13). Furthermore, there was no significant difference in OAB severity when symptoms were compared between female carriers and a cohort of women (n = 17) with spinal cord damage due to multiple sclerosis (P = 0.27). Twenty-one percent (n = 4) of males and 10% (n = 3) of females had moderate to severe bowel dysfunction. Conclusions: Bladder and bowel complaints are common in both men with AMN and female carriers. They have a significant impact on the quality of life yet are under-reported and under-treated. Though having an X-linked pattern of inheritance, female carriers may experience overactive bladder symptoms which are as severe as in male patients and are likely to be neurological in origin