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

Abstract

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 ¼ 16) 5.0 (95% CI AE 1.03)) and 29 females (mean EDSS score (n ¼ 25) 3.2 (95% CI AE 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n ¼ 19) and females (86.2%, n ¼ 25). There was no significant gender difference in severity of OAB symptoms (P ¼ 0.35) and impact on quality of life (P ¼ 0.13). Furthermore, there was no significant difference in OAB severity when symptoms were compared between female carriers and a cohort of women (n ¼ 17) with spinal cord damage due to multiple sclerosis (P ¼ 0.27). Twentyone percent (n ¼ 4) of males and 10% (n ¼ 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 underreported 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.

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy

“…3 ). Thus, we reasoned that a predisposition for temporary, pronounced activation of monocytes seem to be associated with X-ALD and could possibly vary with disease course-related factors like microscopic dysmyelinative foci in AMN brain tissue or subclinical urinary tract infection due to bladder dysfunction ( Powers et al , 2000 ; Hofereiter et al , 2015 ).…”

Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy

“…Notably, fecal incontinence was reported as an early symptom, even occurring in a few patients without signs of myelopathy on exam. The second study (n = 48) assessed symptoms in patients with AMN and reported that moderate to severe overactive bladder symptoms are highly prevalent, with symptoms being under-treated [ 12 ]. The majority of patients disclosed either no or “very minor” bowel symptoms.…”

Lower urinary tract and bowel dysfunction in spinocerebellar ataxias

“…Spinal cord involvement is less in SCAs compared to Friedreich’s ataxia, and this could account for the lower prevalence of bowel complaints in our cohort. Other neurodegenerative diseases with myelopathy, such as X‐linked adrenoleukodystrophy 38 , present higher prevalence and severity of bowel complaints. The presence of a more widespread central nervous system involvement in these other complex disorders in comparison with SCA patients might account for this difference.…”