joint hypermobility syndrome cover

joint hypermobility syndrome: Introduction and Diagnosis

case presentation

A healthy, 12-year-old female presents with generalized joint pain.  She reports being more flexible than her friends naturally.  The patient did have a prior laboratory evaluation with a normal CBC, CMP, Lyme titer, ESR and CRP.  On examination, she has a positive sulcus sign and her Beighton criteria score was 6/9. She denies any gastrointestinal, genitourinary or cardiovascular history.  Which of the following is the most likely diagnosis?

A. Ehlers-Danlos hypermobile type
B. Benign Joint Hypermobility Syndrome
C. Vascular type Ehlers-Danlos
D. Kyphoscoliotic Ehlers-Danlos

introduction

Hypermobility syndrome, also known as joint hypermobility syndrome (JHS), refers to a combination of signs and symptoms incorporating multiple body systems, including the musculoskeletal, cardiovascular, gastrointestinal, urogenital and neurological/autonomic systems, where joint hypermobility is a key feature. Benign joint hypermobility syndrome (BJHS), or generalized hypermobility disorder (GHD) is characterized by generalized ligamentous laxity and the presence of musculoskeletal pain without signs of systemic rheumatologic disease [5].

Originally considered as two distinct conditions, many clinicians and researchers have interpreted joint hypermobility syndrome (JHS) and Ehlers Danlos Syndrome hypermobility type (hEDS) as an expression of the same disorder [1].  It is important to notice that JHS and hEDS constitute 2 distinct heritable connective tissue disorders but most researchers as of 2017 view these as interchangeable.

Although the epidemiology of JHS/hEDS has not been thoroughly explored, the prevalence in the general population has been estimated between 0.75% and 2% [2] with women being much more frequently affected than men. Ehlers-Danlos syndrome itself can be challenging to classify and has 13 types.  Other reports have shown There is about a 4 – 13% prevalence of generalized hypermobility in the general population in the absence of any systemic disease [6]. 

Significant disability has been identified in individuals with GHD/EDSHT including walking, running, stair climbing, sport participation and personal hygiene [3]. A recent metaanalysis showed that pain, fatigue and psychological distress had a significant impact on disability. More complex multisystem involvement has been identified including autonomic and cardiovascular, respiratory, gastrointestinal, genitourinary and visual systems although these relationships have not been proven to be causal [4]. Clinical research is in its infancy with this condition and all of the associations.

Demographics for JHS

Image 1:  Patterns/demographics noted from one analysis showing significant overlap.   Adopted from [17].

Chronic pain is a major problem both in EDS and GHD.  It is found in up to 90% of patients with hypermobile EDS [7,8]. The pain is generally complex, often generalized. Generalized Hypermobility syndrome often leads to poor physical, psychosocial, and overall function comparable to patients with fibromyalgia (FM) [9]. As in other chronic pain conditions, psychological symptoms are common both in EDS and GMS [7,8]. In a recent study on EDS where the majority had the hypermobility type, 51% of respondents reported high levels of anxiety and 20% reported high levels of depression [8]. Fatigue, sleep problems, and other subjective health complaints that influence quality of life are also more frequent in hypermobile EDS/HMS than in controls [10,11].

The majority of patients with shoulder instability related to hEDS/GHD often experience joint subluxation or dislocation following an atraumatic or low-energy traumatic injury. Patients with GHD/hEDS have been reported to have impaired shoulder function, increased intensity of shoulder pain, decreased health-related quality of life score and significantly increased rate of generalized pain in comparison with healthy controls. 

physical examination

History and physical examination can also play a role in the diagnosis of JHS.  The examiner must be careful when evaluating patients with signs and symptoms of shoulder instability in order to determine whether their clinical presentation is related to an underlying connective tissue disorder. It is important to ask the patient about the degree of voluntary control of the shoulder instability and whether or not they have family history of joint (any) dislocation. 

Shoulder instability in patients with hypermobile joints of any etiology can be classified into type 1 or unidirectional, type 2 or bidirectional, and type 3 or multidirectional. Bidirectional anteroinferior instability has been reported to be more prevalent than multidirectional shoulder instability in patients with hEDS/GHS [14]. hEDS or JHS should be suspected in young, female patients who present with global hyperlaxity and describe reduced pain during a shoulder dislocation event compared to post-reduction [15].

No genetic test is available to confirm the diagnosis of JHS/hEDS, which is based on the updated clinical criteria.  It is important, however, to distinguish between JHS and hEDS given that the latter might be associated with abnormalities in multiple organ systems [13]. For example, patients with hEDS might be at higher risk of bleeding during surgery due to the inherited fragility of the blood vessels. 

Sulcus sign

Figure 2.  Sulcus sign  Adopted from [18].

There are specific provocative tests that can be used.  The sulcus sign may be present bilaterally.  The apprehension and relocation tests are also somewhat common tests, but the provider must be very careful depending on the degree of hypermobility.  That is also true for the anterior and posterior drawer tests for the shoulder and the load and shift tests.

Beighton criteria

Figure 3.  Nine-point Beighton score .  Adopted from [5].

No genetic test is available to confirm the diagnosis of GHD/hEDS, which is based on the updated clinical criteria.  It is important, however, to distinguish between GHD and hEDS given that the latter might be associated with abnormalities in multiple organ systems [13]. For example, patients with hEDS might be at higher risk of bleeding during surgery due to the inherited fragility of the blood vessels. 

JHS is classified using the Beighton Score, where nine joints are tested for hypermobility and if four or more are hypermobile then the person scores positively as JHS. The Brighton Criteria incorporates the Beighton Score with major and minor features of the syndrome [16]. 

Beighton images

Image 4: Beighton testing.  Adopted from [17].

Diagnostic criteria hEDS

Figure 5.  Diagnostic criteria for JHS.  Adopted from [20].

Summary

In summary, one of the common causes of unexplained joint pain is joint hypermobility syndrome (JHS). It is frequently misdiagnosed in primary care settings. Recognition of generalized joint hypermobility is very difficult and less than 10% of cases are being recognized. In a child who has unexplained body aches and pains, recognition of hypermobility syndrome helps in the prevention of over prescription of investigations as well as drugs. The primary diagnosis of the disease helps in early and effective pain control which ultimately improves the quality of life of the patients by decreasing disruptions in their physical activities at school, work, etc.

CASE CONCLUSION

Benign joint hypermobility syndrome (BJHS), or generalized hypermobility disorder (GHD) is characterized by generalized ligamentous laxity and the presence of musculoskeletal pain without signs of systemic rheumatologic disease.  Joint hypermobility syndrome (JHS) refers to a combination of signs and symptoms incorporating multiple body systems, including the musculoskeletal, cardiovascular, gastrointestinal, urogenital and neurological/autonomic systems, where joint hypermobility is a key feature.  There is no mention of any other complaints in these systems.  The vignette also does not mentio any ocular or issues with the spine.

References

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