Ehlers-Danlos Syndrome Symptoms from five different PubMed studies:
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobilitytype (EDS-HT) are two clinically overlapping connective tissue disorders characterized by chronic/recurrent pain, joint instability complications, and minor skin changes.
Fatigue and headache are also common, although are not yet considered diagnostic criteria.
JHS/EDS-HT is a unexpectedly common condition that remains underdiagnosed by most clinicians and pain specialists.
This results in interventions limited to symptomatic and non-satisfactory treatments, lacking reasonable pathophysiologic rationale.
In this manuscript the fragmented knowledge on pain, fatigue, and headache in JHS/EDS is presented with review of the available published information and a description of the clinical course by symptoms, on the basis of authors’ experience.
Pathogenic mechanisms are suggested through comparisons with other functional somatic syndromes (e.g., chronic fatigue syndrome, fibromyalgia, and functional gastrointestinal disorders).
The re-writing of the natural history of JHS/EDS-HT is aimed to raise awareness among clinical geneticists and specialists treating chronic pain conditions about pain and other complications of JHS/EDS-HT.
Symptoms’ clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies
Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndromehypermobilitytype (JHS/EDS-HT), is likely the most common, though the least recognized heritable connective tissue disorder
While its leading clinical features typically affect joints, recent evidence indicates a wider spectrum of satellite symptoms/dysfunctions, involving practically all major systems and organs.
Accordingly, clinical research on JHS/EDS-HT is moving from rheumatology and clinical genetics to other disciplines, including neurology, clinical psychology, ophthalmology, cardiology and gynecology/obstetrics
As the skin is one of the most commonly affected and, surely, the easiest to assess body part in heritable connective tissue disorders, it is expected that also the dermatologist should be trained to recognize this condition
In this review, JHS/EDS-HT is presented and discussed in separate sections dedicated to
- all major aspects of diagnosis,
- differential diagnosis,
- clinical features,
- natural history and
- principles of management.
Particular attention is posed on the role of epidermal, dermal and mucosal assessment in JHS/EDS-HT is order to rise the attention to a series of too neglected, though quite common manifestations of this condition
Management principles are presented with a multidisciplinary approach in mind, covering pharmacologic, physical and occupational therapy, surgical, and nutriceutical aspects, as well as general lifestyle recommendations.
Connections with organs and systems other than joints and skin are also discussed
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperelasticity, tissue fragility, easy bruising, and poor healing of wounds.
The clinical manifestations vary depending on the type of disease. The syndrome may be associated with a number of pregnancy and peripartum complications.
Because of the multiorgan involvement and varied presentation of this disease, no uniform or routine obstetric and anesthetic recommendations can be made for the perinatal care of these patients.
We present a review of the literature on EDS with emphasis on the obstetric, anesthetic, and perinatal consequences. We also report our experience with this syndrome: an uneventful term vaginal delivery in a 32-year-old woman diagnosed with hypermobility type of EDS.
PURPOSE: To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT).
CONCLUSIONS: The most consistent association of eye anomalies in the JHS/EDS-HT group included
- steeper corneas,
- pathologic myopia, and
- vitreous abnormalities, as well as
- a higher rate of minor lens opacities.
These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT.
It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom.
The aim of this study was to investigate the relationship between fatigue severity and subjective and objective measures of muscle weakness.
Furthermore, the predictive value of muscle weakness for fatigue severity was determined, together with that of pain and physical activity.
MAIN OUTCOME MEASURES:
Muscle strength measured with manual muscle strength testing and hand-held dynamometry. Self-reported muscle weakness, pain, physical activity levels and fatigue were assessed with standardised questionnaires.
Fatigue severity in EDS was significantly correlated with measured and self-reported muscle weakness (r=-0.408 for manual muscle strength, r=0.461 for hand-held dynamometry and r=0.603 for self-reported muscle weakness).
Both muscle weakness and pain severity were significant predictors of fatigue severity in a multiple regression analysis.
The results suggest a positive and direct relationship between fatigue severity and muscle weakness in EDS.
Future research should focus on the relationship between fatigue, muscle weakness and objectively measured physical activity, preferably in a larger cohort of EDS patients.