Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

Abstract

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (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 Laxity/Hypermobility: Old Problems and New Opportunities for Family Medicine

“…The thumb to forearm sign can preface the entire Beighton scale, giving one point bilaterally for fingers pressed back beyond 90 degrees on the hand, touching thumbs to forearms, hyperextending the elbow with arms extended, hyperextending knees to form a backward leg curve, and 1 point for the ability to touch palms to the floor [10]. A brief survey of symptoms like those in Table 1 [11,12] can confirm suspicion, aided perhaps by including in the physical examinations some of the assessments listed in the lower part of Table 1. Note that not all AAD patients are tall or thin, and that a substantial portion will be over-weight due to restrictions of activity from pain and fatigue.…”

“…She still had joint pain, anxiety, and fatigue on occasion, but "wise exercise" to build muscle protection around her joints, nutritional approaches for dysautonomia, and biofeedback approaches to head off anxiety were life-changing [15][16][17]. These treatments were all because of recognition by her family practitioner, now able to coordinate care for Eve and her mother and to provide resources for understanding both EDS [18] and its underlying gene changes [19].…”

Fragile X syndrome: A review of clinical management

“…Interestingly GI problems have been described to be quite common in other connective tissue disorders, such as Ehlers-Danlos syndrome (EDS) and Marfan syndrome; such problems include GERD, irritable bowel syndrome, and diarrhea (87)(88)(89)(90). Even more intriguing is the association of the premutation and irritable bowel syndrome and the fact that developmental disorders and autism are usually associated with constipation rather than diarrhea as observed in FXS (91).…”

Systemic Manifestations of Ehlers-Danlos Syndrome Hypermobility Type

“…The phenotypic expression of EDS-HT is variable, even within the same family, making diagnosis a challenge [9] and resulting in under diagnosis of the syndrome [5]. As the terms Joint Hypermobility Syndrome (JHS) and EDS-HT are often used differently in the same classification, the etiology must be confirmed at the molecular level [11]. The signs and symptoms of EDS-HT are classified as musculoskeletal or extra skeletal [5].…”