Benign Joint Hypermobility Syndrome: Difference between revisions

(Created page with "== Introduction == Joint Hypermobility Syndrome (JHS) was first described in 1967 by Kirk and colleagues as a condition where joint laxity is associated with various musculosk...")
 
No edit summary
Line 2: Line 2:
Joint Hypermobility Syndrome (JHS) was first described in 1967 by Kirk and colleagues as a condition where joint laxity is associated with various musculoskeletal complaints.<ref>Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome: musculoskeletal complaints look for more recent sources associated with generalized joint hypermobility. Ann Rheum Dis. 1967; 26(5): 419–25. </ref> JHS encompasses various disorders such as Benign Joint Hypermobility Syndrome (BJHS), Ehler-Danlos Syndrome (EDS), Marfan Syndrome and Osteogenesis Imperfecta.<ref name=":0">Neki NS, Chhabra A. Benign Joint Hypermobility Syndrome. Journal of Mahatma Gandhi Institute of Medical Sciences. 2016; 21(1): 12-18</ref> All of these disorders are classified as hereditary connective tissue disorders (HCTDs).<ref name=":0" />
Joint Hypermobility Syndrome (JHS) was first described in 1967 by Kirk and colleagues as a condition where joint laxity is associated with various musculoskeletal complaints.<ref>Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome: musculoskeletal complaints look for more recent sources associated with generalized joint hypermobility. Ann Rheum Dis. 1967; 26(5): 419–25. </ref> JHS encompasses various disorders such as Benign Joint Hypermobility Syndrome (BJHS), Ehler-Danlos Syndrome (EDS), Marfan Syndrome and Osteogenesis Imperfecta.<ref name=":0">Neki NS, Chhabra A. Benign Joint Hypermobility Syndrome. Journal of Mahatma Gandhi Institute of Medical Sciences. 2016; 21(1): 12-18</ref> All of these disorders are classified as hereditary connective tissue disorders (HCTDs).<ref name=":0" />


Connective tissue is found throughout the body (ligaments, tendons, joints, the digestive tract, heart, eyes), so JHS does not just affect the joints. It can also affect  skin extensibility, digestion and in more severe connective tissue disorders like Marfan Syndrome, it can affect heart function.<ref>Prowse, T. Benign Joint Hypermobility Syndrome Course. Physioplus. 2020. </ref>
Connective tissue is found throughout the body (ligaments, tendons, joints, the digestive tract, heart, eyes), so JHS does not just affect the joints. It can also affect  skin extensibility, digestion and in more severe connective tissue disorders like Marfan Syndrome, it can affect heart function.<ref name=":5">Prowse, T. Benign Joint Hypermobility Syndrome Course. Physioplus. 2020. </ref>


Unlike other connective tissue disorders, BJHS is a condition which causes musculoskeletal symptoms in hypermobile patients, without other rheumatological features being present.<ref name=":1">Simpson MMR. Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management. J Am Osteopath Assoc. 2006;106(9): 531–536.</ref> Its primary symptom is symptomatic hypermobility (ie excessive laxity) of multiple joints.<ref name=":2">Ross J, Grahame R. Joint hypermobility syndrome. ''BMJ.'' 2011; 342: c7167.</ref><ref>Russek LN. Hypermobility Syndrome, Physical Therapy. 1999; 79(6): 591-9.</ref> and it is associated with arthralgia, poor exercise tolerance and potentially recurrent subluxations.<ref>Magnusson SP, Julsgaard C, Aagaard P, Zacharie C, Ullman S, Kobayasi T et al.Viscoelastic properties and flexibility of the human muscle-tendon unit in benign joint hypermobility syndrome. The Journal of Rheumatology. 2001; 28(12): 2720-5.</ref><ref name=":2" />
Unlike other connective tissue disorders, BJHS is a condition which causes musculoskeletal symptoms in hypermobile patients, without other rheumatological features being present.<ref name=":1">Simpson MMR. Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management. J Am Osteopath Assoc. 2006;106(9): 531–536.</ref> Its primary symptom is symptomatic hypermobility (ie excessive laxity) of multiple joints.<ref name=":2">Ross J, Grahame R. Joint hypermobility syndrome. ''BMJ.'' 2011; 342: c7167.</ref><ref>Russek LN. Hypermobility Syndrome, Physical Therapy. 1999; 79(6): 591-9.</ref> and it is associated with arthralgia, poor exercise tolerance and potentially recurrent subluxations.<ref>Magnusson SP, Julsgaard C, Aagaard P, Zacharie C, Ullman S, Kobayasi T et al.Viscoelastic properties and flexibility of the human muscle-tendon unit in benign joint hypermobility syndrome. The Journal of Rheumatology. 2001; 28(12): 2720-5.</ref><ref name=":2" />
Line 12: Line 12:


BJHS has a strong genetic component and appears to be caused by an abnormality in collagen or the ratio of collagen subtypes.<ref name=":1" /> Mutations in the fibrillin gene have been found in families with BJHS.<ref name=":1" />
BJHS has a strong genetic component and appears to be caused by an abnormality in collagen or the ratio of collagen subtypes.<ref name=":1" /> Mutations in the fibrillin gene have been found in families with BJHS.<ref name=":1" />
== Signs and Symptoms ==
The most common initial complaint of BJHS is joint pain. One or more joints may be affected and the presentation may be generalised or symmetric. While any joint can be affected, the most commonly involved joints are the knee and ankle.<ref name=":1" />
Symptoms can begin at any age with young children often affected. The pain is often in multiple joints but tends to be self-limiting.<ref name=":1" /> However, for some patients, pain persists and can become chronic and associated with central sensitisation<ref name=":5" /><ref>Kumar B, Lenert P. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. The American Journal of Medicine. 2017; 130(6): 640-7.
</ref> and a high proportion of patients diagnosed with chronic pain are reported to have generalised joint hypermobility.<ref name=":6">Scheper MC, de Vries JE, Verbunt J, Engelbert RH. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ''J Pain Res''. 2015; 8:591-601.</ref>
Patients with BJHS are often particularly prone to overuse injury.<ref>McCormack M, Briggs J, Hakim A, Grahame R. Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers. The Journal of Rheumatology. 2004; 31(1): 173-178.</ref> They may have a subjective history of being very active during the day, which may indicate an imbalance between the tissue capacity and the amount of load being placed on the tissues.<ref name=":5" /> The resulting overload can stimulate the central nervous system, causing an increase in pain as the day progresses.<ref name=":5" /> Thus, patients may often complain of night pain.<ref name=":1" /> As many of these patients are young children, these symptoms can be overlooked as “growing pain”, but it can result in significant stress for the patient and his / her family. They may also present with sensations of muscle tightness in the evening.<ref name=":5" />
Other signs of connective tissue disorder may be present. These include:<ref name=":1" />
* Scoliosis
* Pes planus
* Genu valgum,
* Lordosis
* Patellar subluxation or dislocation
* Marfanoid habitus
* Varicose veins
* Rectal or uterine prolapse
* Thin skin<ref name=":1" />
There has been some controversy over the association of BJHS with mitral valve prolapse. Early studies appeared to show an association between MVP and BJHS, but this has been questioned in later studies.<ref name=":1" />
== Diagnosis ==
The diagnosis of BJHS is made with a clinical examination and it is one of exclusion.<ref name=":5" /> If patients present with painful or swollen joints, inflammatory, infection and autoimmune causes need to be excluded. Medical tests might include a complete blood cell count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibody test, serum complement (C3, C4, CH50) levels, and serum immunoglobulin (IgG, IgM, IgA) levels. If these test results that are outside the normal range an alternative diagnosis is likely.<ref name=":1" />
Because BJHS shares a number of features with other connective tissue disorders like Marfan Syndrome and Osteogenesis Imperfecta, these conditions need to be ruled out.<ref name=":1" /> Key distinguishing features may be present to differentiate between these disorders.
==== Ehlers–Danlos Syndrome (EDS) ====
EDS has a very similar presentation to BJHS. EDS is a group of connective tissue disorders that cause gross joint laxity, as well as symptoms such as purple papyraceous scars, skin hyperelasticity, and fragile skin, which means patients are prone to bruising. The most common types of EDS are Types I, II and III.<ref name=":1" /> Ross and Grahame note that BHJS can not be distinguished from the hyermobility type of EDS (Type III).<ref name=":2" /> Symptoms associated with EDS Type III are joint pain, hypermobility, mild extra-articular involvement, and mild skin changes without scarring.<ref name=":1" /> It has therefore been proposed that BJHS may indeed be a mild form of EDS - and that the two conditions are really a continuum.<ref name=":6" /><ref>Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet Part A. 2009. 149A: 2368-70.</ref> Both BJHS and EDS are inherited disorders and are due to problems with collagen.<ref name=":1" />
==== Marfan Syndrome ====
Marfan Syndrome is an autosomal dominant disorder. Patients with Marfans tend to have a family history of the disorder. Cardiac and occular features are often present. Patients  have a tall, thin build (marfanoid habitus), generalised joint hypermobility, elongated fingers (arachnodactyly), myopia, and lens dislocation.<ref name=":1" />
==== Osteogenesis Imperfecta ====
Osteogenesis Imperfecta is another disorder associated with a defect in collagen. Patients present with excessive joint laxity, thin blue sclera, and bone fragility, which results in multiple fractures and bony deformities.<ref name=":1" />
==== Juvenile Rheumatoid Arthritis ====
Juvenile rheumatoid arthritis should be considered in children who present with hypermobility and joint pain. However, the onset of arthritis must occur before 16 years, and will involve inflammation of one or more joints. Other rheumatic disorders may also be considered.<ref name=":1" />
==== Beighton Scale of Hypermobility ====
[[File:Beighton Score.png|thumb|581x581px|Figure 1. Beighton Scale of Hypermobility]]
Once the above conditions have been excluded, a diagnosis of BJHS can be considered. The key assessment measure for BJHS is the Beighton Scale of Hypermobility. The Beighton Scale is a measure of generalised joint laxity and was developed to establish diagnostic criteria for BJHS. It is used to help distinguish BJHS from other connective tissue disorders.<ref name=":1" />
The patient is asked to do five simple movements (see figure 1). The scoring criteria changes based on age as people become stiffer over time.
* Pre-pubertal girls and boys - a score over six is considered positive for joint hypermobility
* Pubertal men and women up until the age of 50 years - a score of five or more is considered positive
* Adults aged over 50 - a score over four is considered positive<ref name=":5" />
It is important to remember when using this measure that BJHS refers to pain associated with hypermobility - not hypermobility alone.<ref name=":5" />
== References ==
<references />

Revision as of 07:08, 25 July 2020

Introduction[edit | edit source]

Joint Hypermobility Syndrome (JHS) was first described in 1967 by Kirk and colleagues as a condition where joint laxity is associated with various musculoskeletal complaints.[1] JHS encompasses various disorders such as Benign Joint Hypermobility Syndrome (BJHS), Ehler-Danlos Syndrome (EDS), Marfan Syndrome and Osteogenesis Imperfecta.[2] All of these disorders are classified as hereditary connective tissue disorders (HCTDs).[2]

Connective tissue is found throughout the body (ligaments, tendons, joints, the digestive tract, heart, eyes), so JHS does not just affect the joints. It can also affect  skin extensibility, digestion and in more severe connective tissue disorders like Marfan Syndrome, it can affect heart function.[3]

Unlike other connective tissue disorders, BJHS is a condition which causes musculoskeletal symptoms in hypermobile patients, without other rheumatological features being present.[4] Its primary symptom is symptomatic hypermobility (ie excessive laxity) of multiple joints.[5][6] and it is associated with arthralgia, poor exercise tolerance and potentially recurrent subluxations.[7][5]

Epidemiology[edit | edit source]

Generalised joint laxity is often observed in people who do not have any other symptoms.[4] It has been found that hypermobility not associated with systemic disease occurs in 4% to 13% of the population.[4] In 1973, Beighton and colleagues demonstrated that the number of positive hypermobility tests was age and sex related - ie rates are higher in younger children and women have higher scores than age-matched men.[8] It also appears that rates vary across ethnicities,[8] with higher rates in Asian, African and Middle Eastern people.[4]

There have been a number of studies looking at prevalence rates of hypermobility in children. One study by Gedalia and colleagues found that generalised hypermobility occurs in 66% of school children with arthralgia of unknown cause.[4][9] However, while de Inocencio Arocena and colleagues found similar prevalence rates (hypermobility prevalence was 55%, and 71 % in children aged less than 8 years)[10] as Gedalia et al, they found that there was no association between hypermobility and developing arthralgia.[4][10] Thus, it appears that generalised hypermobility can exist without joint pain.[4]

BJHS has a strong genetic component and appears to be caused by an abnormality in collagen or the ratio of collagen subtypes.[4] Mutations in the fibrillin gene have been found in families with BJHS.[4]

Signs and Symptoms[edit | edit source]

The most common initial complaint of BJHS is joint pain. One or more joints may be affected and the presentation may be generalised or symmetric. While any joint can be affected, the most commonly involved joints are the knee and ankle.[4]

Symptoms can begin at any age with young children often affected. The pain is often in multiple joints but tends to be self-limiting.[4] However, for some patients, pain persists and can become chronic and associated with central sensitisation[3][11] and a high proportion of patients diagnosed with chronic pain are reported to have generalised joint hypermobility.[12]

Patients with BJHS are often particularly prone to overuse injury.[13] They may have a subjective history of being very active during the day, which may indicate an imbalance between the tissue capacity and the amount of load being placed on the tissues.[3] The resulting overload can stimulate the central nervous system, causing an increase in pain as the day progresses.[3] Thus, patients may often complain of night pain.[4] As many of these patients are young children, these symptoms can be overlooked as “growing pain”, but it can result in significant stress for the patient and his / her family. They may also present with sensations of muscle tightness in the evening.[3]

Other signs of connective tissue disorder may be present. These include:[4]

  • Scoliosis
  • Pes planus
  • Genu valgum,
  • Lordosis
  • Patellar subluxation or dislocation
  • Marfanoid habitus
  • Varicose veins
  • Rectal or uterine prolapse
  • Thin skin[4]

There has been some controversy over the association of BJHS with mitral valve prolapse. Early studies appeared to show an association between MVP and BJHS, but this has been questioned in later studies.[4]

Diagnosis[edit | edit source]

The diagnosis of BJHS is made with a clinical examination and it is one of exclusion.[3] If patients present with painful or swollen joints, inflammatory, infection and autoimmune causes need to be excluded. Medical tests might include a complete blood cell count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibody test, serum complement (C3, C4, CH50) levels, and serum immunoglobulin (IgG, IgM, IgA) levels. If these test results that are outside the normal range an alternative diagnosis is likely.[4]

Because BJHS shares a number of features with other connective tissue disorders like Marfan Syndrome and Osteogenesis Imperfecta, these conditions need to be ruled out.[4] Key distinguishing features may be present to differentiate between these disorders.

Ehlers–Danlos Syndrome (EDS)[edit | edit source]

EDS has a very similar presentation to BJHS. EDS is a group of connective tissue disorders that cause gross joint laxity, as well as symptoms such as purple papyraceous scars, skin hyperelasticity, and fragile skin, which means patients are prone to bruising. The most common types of EDS are Types I, II and III.[4] Ross and Grahame note that BHJS can not be distinguished from the hyermobility type of EDS (Type III).[5] Symptoms associated with EDS Type III are joint pain, hypermobility, mild extra-articular involvement, and mild skin changes without scarring.[4] It has therefore been proposed that BJHS may indeed be a mild form of EDS - and that the two conditions are really a continuum.[12][14] Both BJHS and EDS are inherited disorders and are due to problems with collagen.[4]

Marfan Syndrome[edit | edit source]

Marfan Syndrome is an autosomal dominant disorder. Patients with Marfans tend to have a family history of the disorder. Cardiac and occular features are often present. Patients  have a tall, thin build (marfanoid habitus), generalised joint hypermobility, elongated fingers (arachnodactyly), myopia, and lens dislocation.[4]

Osteogenesis Imperfecta[edit | edit source]

Osteogenesis Imperfecta is another disorder associated with a defect in collagen. Patients present with excessive joint laxity, thin blue sclera, and bone fragility, which results in multiple fractures and bony deformities.[4]

Juvenile Rheumatoid Arthritis[edit | edit source]

Juvenile rheumatoid arthritis should be considered in children who present with hypermobility and joint pain. However, the onset of arthritis must occur before 16 years, and will involve inflammation of one or more joints. Other rheumatic disorders may also be considered.[4]

Beighton Scale of Hypermobility[edit | edit source]

Figure 1. Beighton Scale of Hypermobility

Once the above conditions have been excluded, a diagnosis of BJHS can be considered. The key assessment measure for BJHS is the Beighton Scale of Hypermobility. The Beighton Scale is a measure of generalised joint laxity and was developed to establish diagnostic criteria for BJHS. It is used to help distinguish BJHS from other connective tissue disorders.[4]

The patient is asked to do five simple movements (see figure 1). The scoring criteria changes based on age as people become stiffer over time.

  • Pre-pubertal girls and boys - a score over six is considered positive for joint hypermobility
  • Pubertal men and women up until the age of 50 years - a score of five or more is considered positive
  • Adults aged over 50 - a score over four is considered positive[3]

It is important to remember when using this measure that BJHS refers to pain associated with hypermobility - not hypermobility alone.[3]

References[edit | edit source]

  1. ↑ Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome: musculoskeletal complaints look for more recent sources associated with generalized joint hypermobility. Ann Rheum Dis. 1967; 26(5): 419–25. 
  2. ↑ 2.0 2.1 Neki NS, Chhabra A. Benign Joint Hypermobility Syndrome. Journal of Mahatma Gandhi Institute of Medical Sciences. 2016; 21(1): 12-18
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Prowse, T. Benign Joint Hypermobility Syndrome Course. Physioplus. 2020.
  4. ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 4.12 4.13 4.14 4.15 4.16 4.17 4.18 4.19 4.20 4.21 4.22 4.23 Simpson MMR. Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management. J Am Osteopath Assoc. 2006;106(9): 531–536.
  5. ↑ 5.0 5.1 5.2 Ross J, Grahame R. Joint hypermobility syndrome. BMJ. 2011; 342: c7167.
  6. ↑ Russek LN. Hypermobility Syndrome, Physical Therapy. 1999; 79(6): 591-9.
  7. ↑ Magnusson SP, Julsgaard C, Aagaard P, Zacharie C, Ullman S, Kobayasi T et al.Viscoelastic properties and flexibility of the human muscle-tendon unit in benign joint hypermobility syndrome. The Journal of Rheumatology. 2001; 28(12): 2720-5.
  8. ↑ 8.0 8.1 Remvig L, Jensen DV, Ward RC. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. The Journal of Rheumatology. 2007; 34(4): 804-9.
  9. ↑ Gedalia A, Brewer EJ Jr. Joint hypermobility in pediatric practice--a review. The Journal of Rheumatology.1993. 20(2): 371-374.
  10. ↑ 10.0 10.1 de Inocencio AJ, Ocaña CI, Benito OL. Laxitud articular: prevalencia y relación con dolor musculosquelético [Joint hypermobility: prevalence and relationship with musculoskeletal pain]. An Pediatr (Barc). 2004; 61(2):162-166.
  11. ↑ Kumar B, Lenert P. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. The American Journal of Medicine. 2017; 130(6): 640-7.
  12. ↑ 12.0 12.1 Scheper MC, de Vries JE, Verbunt J, Engelbert RH. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. J Pain Res. 2015; 8:591-601.
  13. ↑ McCormack M, Briggs J, Hakim A, Grahame R. Joint laxity and the benign joint hypermobility syndrome in student and professional ballet dancers. The Journal of Rheumatology. 2004; 31(1): 173-178.
  14. ↑ Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet Part A. 2009. 149A: 2368-70.
Retrieved from "https://www.physio-pedia.com/index.php?title=Benign_Joint_Hypermobility_Syndrome&oldid=244601"