Foot pain and disability in Ehlers-Danlos syndrome

Hylton Menz · Mar 10, 2005

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Interesting paper from the latest issue of Disability & Rehabilitation:

Foot pain and disability in individuals with Ehlers-Danlos syndrome (EDS): Impact on daily life activities

Britta Berglund, Gun Nordström, Catharina Hagberg, Anne-Cathrine Mattiasson

Purpose: to investigate the amount and severity of podiatric problems in individuals with EDS as well as the consequences on daily life activities, and to compare these results with the results from a comparison group of the general population.

Method: The Manchester Foot Pain and Disability Schedule (MFPDS) and a demographic and foot-specific form were mailed.

Results: One hundred and thirty-six individuals with EDS and 292 from the comparison group responded. The median MFPDS total score in the EDS group was 33 (range 17-49) (mean 32, SD 8) and in the comparison group 17 (range 17-41) (mean 19, SD 4) (P<0.001). The items most frequently marked with 3 points in the EDS group were: 'I avoid standing for a long time', 'I catch the bus or use the car more often', and 'I get irritable when my feet hurt' (55, 46 and 43%, respectively). When comparing the NRS scores (i.e. Numeric Rating Scale) regarding pain intensity between the EDS group (median 5) and the comparison group (median 0), a statistically significant difference was found (P<0.001). Other foot problems than pain were reported by 73% (n=100) of the EDS group and by 21% (n=60) of the comparison group (P<0.001). The presence of flat feet in the EDS group and the comparison group was reported by 55% (n=75) and 8% (n=23), respectively.

Conclusions: Individuals with EDS endure difficulties with their mobility due to their foot problems and related disability. It is therefore of utmost importance to find ways to assess the actual foot status for this group and to support the individuals with solutions to their problems with ambulation.

Kind regards,

Hylton

NewsBot · Dec 3, 2016

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome
Courtney M. Stern, BS, Michael J. Pepin, MA, Joan M. Stoler, MD, Dennis E. Kramer, MD, Samantha A. Spencer, MD, Cynthia J. Stein, MD, MPH
Jnl of Pediatrics; Article in Press

Objective
To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS).

Study design
A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period.

Results
Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55.6%) was hypermobility type. Patients had between 1 and 69 visits (median 4), and 764 diagnoses were recorded, most commonly laxity/instability, pain, subluxation, and scoliosis/spinal asymmetry. Nearly one-half of patients (46.8%) received a general diagnosis of pain because no more specific cause was identified, in addition to 8.3% who were diagnosed with chronic pain syndrome. The most common sites of presenting issue were knee (43.4%), back (32.2%), and shoulder (31.2%). Over three-fourths (77.1%) of patients had imaging. Most (88.1%) were prescribed physical therapy and/or other conservative measures, such as rest (40.5%), orthotics (35.6%), and medication (32.2%). Surgery was recommended to 28.8% of the study population.

Conclusions
Many pediatric and adolescent patients with EDS experience joint pain, instability, and scoliosis, along with other musculoskeletal issues. Despite extensive workup, the etiology of pain may not be identified. Large numbers of office visits, imaging studies, treatment prescriptions, and specialist referrals indicate considerable use of medical resources and highlight a great need for injury prevention and additional study.
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NewsBot · Mar 22, 2017

The 2017 international classification of the Ehlers–Danlos syndromes
Fransiska Malfait, et al
American Journal of Medical Genetics Part C: Seminars in Medical Genetics 17 March 2017 (full text)

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes
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NewsBot · Jul 2, 2019

Podiatry alterations in Ehlers-Danlos syndrome.
Palomo-Toucedo IC et al
Med Clin (Barc). 2019 Jun 26. pii: S0025-7753(19)30354-9

BACKGROUND AND OBJECTIVE:
This paper aims to describe the type of foot and most frequent podiatric alterations, as well as the level of pain, disability, fatigue and alteration of quality of life in patients with Ehlers-Danlos syndrome (EDS).

MATERIALS AND METHODS:
Thirty-eight individuals with hypermobile or classic EDS participated. The percentage of pain in the foot and deformities was recorded, and several questionnaires were administered. The type of foot was classified according to the footprint and the Foot Posture Index.

RESULTS:
There was a high degree of pain, disability, intensity of fatigue and low quality of life in these patients. According to the footprint, 20% presented flat feet, 47% normal feet and 33% cavus feet.

CONCLUSIONS:
The participants in this study had a high percentage of foot problems related to high levels of pain and limited functionality in the feet. The quality of life of these patients appeared diminished. Foot types were observed according to the footprint and deformities similar to those of the general population.
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NewsBot · Dec 29, 2020

Altered multi-segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers-Danlos Syndrome/Hypermobility spectrum disorder. A case-control study
Stefan Vermeulen et al
Arthritis Care Res (Hoboken). 2020 Dec 4

Objective: Ankle-foot problems have a considerable impact on daily functioning in patients with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder (hEDS/HSD). Therefore, the objective of this study is to identify alterations in multi-segment ankle and foot kinematics during gait and assessing foot function and pain in these patients.

Methods: Twenty-three women with hEDS/HSD and 23 healthy controls participated in this three-dimensional (3D) gait analysis. Multi-segment ankle and foot kinematics were collected using the Ghent Foot Model (GFM) and analyzed with Statistical Parametric Mapping (SPM). Foot function and pain were assessed using Visual Analogue Scale (VAS)-scores, the Margolis Pain Diagram, and the Foot Function Index (FFI).

Results: Levels of pain and foot dysfunction were significantly higher in subjects with hEDS/HSD (p<0.001). Kinematic curve analyses provide evidence for a hypermobile first ray, represented by a significantly increased eversion position of the medial forefoot during stance phase (p<0.001) in subjects with hEDS/HSD compared to controls. In addition, significantly more dorsiflexion was found in the medial and lateral forefoot and the rearfoot (p<0.001). At the midfoot an increased plantar flexion (p<0.001) and at the level of the hallux a decreased dorsiflexion (p=0.037) and increased inversion (p<0.001) and abduction (p=0.016) were found in subjects with hEDS/HSD.

Conclusion: This study is the first to apply a multi-segment foot model during gait in hEDS/HSD, which confirms the characteristic hypermobility throughout the foot, especially the hypermobile first ray.
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NewsBot · Oct 30, 2021

Inter-segmental coordination amplitude and variability differences during gait in patients with Ehlers-Danlos syndrome and healthy adults
Shawn M. Robbins et al
October 28, 2021

Highlights
•Coordination amplitude did not differ between Ehlers-Danlos and healthy groups.
•Coordination variability was greater in the Ehlers-Danlos group.
•Greater variability may be due to impaired proprioception and strength.
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Background
There is limited research examining gait and inter-segmental coordination in patients with Ehlers-Danlos syndrome. The objective was to compare lower extremity inter-segmental coordination amplitude and variability during gait between patients with Ehlers-Danlos syndrome and healthy adults.
Methods
This cross-sectional study included participants with Ehlers-Danlos syndrome (n = 13) and healthy adults (n = 14). Gait data were acquired using a motion capture system and force plates. Participants ambulated at self-selected speeds for five trials. Inter-segmental coordination was quantified using continuous relative phase, which examined the dynamic interaction between the thigh-shank and shank-foot paired segments (i.e. phase space relation). A 2-way mixed analysis of variance examined the effects of groups (Ehlers-Danlos and healthy) and gait phases (stance and swing phase) on inter-segmental coordination amplitude and between-trial variability. Effect sizes were calculated using Cohen's d.
Findings
The Ehlers-Danlos group had greater inter-segmental coordination variability compared to the healthy group for foot-shank and shank-thigh segment pairs in the sagittal plane over stance and swing phases (P = 0.04; small to large effect sizes). The Ehlers-Danlos group also had greater variability in the frontal plane at the foot-shank segment pair during stance phase (P = 0.03; large effect). There were no differences in inter-segmental coordination amplitude between groups (P = 0.06 to 0.85).
Interpretation
Patients with Ehlers-Danlos syndrome have more variability between gait trials in lower limb motor coordination than healthy adults. This may be related to the impaired proprioception, reduced strength, pain, or slower gait speed seen in this population.
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