Anorectal manometry for the diagnosis of pelvic floor disorders in patients with hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome

Abstract

Introduction Functional gastrointestinal disorders (FGID) including impaired rectal evacuation are common in patients with Hypermobility Spectrum Disorder (HSD) or Hypermobile Ehlers-Danlos Syndrome (hEDS). The effect of connective tissue pathologies on pelvic floor function in HSD/hEDS remains unclear. We aimed to compare clinical characteristics and anorectal pressure profile in patients with HSD/hEDS to those of age and sex matched controls. Methods We conducted a retrospective review of all FGID patients who underwent high resolution anorectal manometry (HR-ARM) and balloon expulsion test (BET) for evaluation of impaired rectal evacuation. Patients with HSD/hEDS were age and sex matched to a randomly selected cohort of control patients without HSD/hEDS. An abnormal BET was defined as the inability to expel a rectal balloon within 2 minutes. Wilcoxon rank sum test and Fisher’s exact test were used to make comparisons and logistic regression model for predictive factors for abnormal evacuation. Results A total of 144 patients (72 with HSD/hEDS and 72 controls) were analyzed. HSD/hEDS patients were more likely to be Caucasian (p < 0.001) and nulliparous. Concurrent psychiatric disorders; depression, and anxiety (p < 0.05), and somatic syndromes; fibromyalgia, migraine and sleep disorders (p < 0.001) were more common in these patients. Rate of abnormal BET were comparable among the groups. HDS/hEDS patients had significantly less anal relaxation and higher residual anal pressures during simulated defecation, resulting in significantly more negative rectoanal pressure gradient. The remaining anorectal pressure profile and sensory levels were comparable between the groups. While diminished rectoanal pressure gradient was the determinant of abnormal balloon evacuation in non HSD/hEDS patients, increased anal resting tone and maximum volume tolerated were independent factors associated with an abnormal BET in HSD/hEDS patients. Review of defecography data from a subset of patients showed no significant differences in structural pathologies between HSD/hEDS and non HSD/hEDS patients. Conclusions These results suggest anorectal pressure profile is not compromised by connective tissue pathologies in HSD patients. Whether concurrent psychosomatic disorders or musculoskeletal involvement impact the pelvic floor function in these patients needs further investigation.

Bone Density in Children with Hypermobility Spectrum Disorder Compared to Children with Benign Hypermobility

“…Hypermobility spectrum disorders are characterized by joint hypermobility assessed using the Beighton score, coupled with one or more secondary musculoskeletal manifestations such as post-traumatic symptoms, pain, altered proprioception, and various features including pes planus, kyphosis, scoliosis, or joint misalignment (2,7).…”

Hypermobility spectrum disorders and migraine in adolescents

“…Hypermobility spectrum disorders/hypermobile type Ehlers-Danlos Syndrome (HSD/hEDS) are connective tissue disorders that can affect multiple systems and result in a variety of symptoms including hyperextensible skin, frequent joint dislocations, orthostatic intolerance, autonomic dysfunction, functional gastrointestinal disorders, chronic pain, and fatigue. 1,2 In clinical practice, it is not uncommon to see patients severely affected by both migraine and HSD/hEDS, and the management can sometimes be challenging given the multitude of symptoms involved in this population. The recent study "Hypermobility Spectrum Disorders and Migraine in Adolescents-A Nationwide Study" conducted by Zloof et al 3 and published in Headache, is an important study that reported the association between (HSD/hEDS) and migraine in adolescents.…”