Edit concept Question Editor Create issue ticket

Hypermobility Syndrome

Benign Joint Hypermobility

Hypermobility syndrome, also referred to as benign joint hypermobility syndrome is a rare hereditary connective tissue disorder seen in the pediatric age group. Its clinical manifestations are highly variable but the most common features are a chronic pain with hypermobile (hyperlaxity of) joints, hyperextensible skin, fragile tissues which bleed easily, and other extra-musculoskeletal signs.


Presentation

Hypermobility syndrome (HM) or benign joint hypermobility syndrome (BJHS) is a hereditary connective tissue disorder seen in the pediatric age group. Some authors have defined joint hypermobility syndrome (JHS) as a condition which includes individuals with hypermobile joints accompanied by symptoms of unknown etiology [1] [2] [3]. Other authors state that hereditary connective tissue disorders may be associated with JHS and "benign JHS" are used to differentiate it from other more life-threatening connective tissue disorders like Ehlers Danlos syndrome (EDS), Marfan syndrome, and Loeys Dietz syndrome [4]. According to Simpson [5], JHS is currently considered an inherited connective tissue disorder with features similar to those of Marfan syndrome and Ehlers Danlos syndrome type 3, hypermobility type.

Hypermobility syndrome is transmitted in an autosomal pattern. The penetrance is variable [6] with a majority of the patients having no identifiable collagen protein abnormalities although a few may have a deficiency of tenascin-X [5]. There is often a family history of the syndrome.

Although symptoms can start at any age, they are typically noticed in childhood and adolescence. Females are affected more than males. The presenting complaint is usually severe, debilitating pain, which is aggravated by activity e.g pain in the lower limbs while walking or difficulty writing in school. Children report "cracking" joints, swelling in the joints (especially knees and ankles) lasting for several days, recurrent joint subluxations or dislocations which reduce spontaneously. Exercise, excessive movement and joint stress are believed to cause the chronic joint pain. A backache is another common symptom, especially in the lumbar region as it is the most mobile part of the vertebral column. Other common symptoms include myalgia, cramps, and stiffness of the joints [7]. Affected patients claim to be double jointed and can voluntarily subluxate.

Rigor
  • Longer term, rigorous multi-centre randomised controlled trials are warranted to begin to assess the clinical and cost-effectiveness of interventions for children and adults with BJHS.[ncbi.nlm.nih.gov]
  • Although early studies indicated an increased incidence of MVP in affected patients, more recent investigations that used rigorous echocardiographic criteria for the diagnosis of MVP have questioned this association.[jmgims.co.in]
Coarctation of the Aorta
  • In the patient described here, the Marfanoid hypermobility syndrome was associated with coarctation of the aorta which was corrected surgically.[ncbi.nlm.nih.gov]
Striae Distensae
  • Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight 4.[rarediseases.info.nih.gov]
Arthralgia
  • We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and[ncbi.nlm.nih.gov]
  • Again compared with the control group, arthralgia (p 0.00), myalgia (p 0.01), shoulder impingement syndrome (p 0.05), pes planus (p 0.01), and hyperkyphosis (p 0.000) were higher in the patients.[ncbi.nlm.nih.gov]
  • Its major criteria are a Beighton score of 4/9 or greater and arthralgia, but the diagnosis can also be based on the presence of minor criteria, including abnormal skin and joint (sub)luxations.[doi.org]
  • […] hypermobility syndrome is also known as being double jointed or disjointed.It’s that excessive, free movement of the body’s joints that leaves a person susceptible to injury, sprains, tissue deterioration, and more serious conditions like myalgia and arthralgia[thenba.ca]
Joint Swelling
  • Children report "cracking" joints, swelling in the joints (especially knees and ankles) lasting for several days, recurrent joint subluxations or dislocations which reduce spontaneously.[symptoma.com]
  • While some children may have no symptoms, others may have joint and muscle pains or mild joint swelling in the late afternoon or evening or after exercise. These aches and pains are more common in the knees, elbows, and calf and thigh muscles.[rheumatology.org]
  • Although brief episodes of joint swelling can occur in hypermobility syndrome, the presence of acute symmetrically tender joints should prompt reconsideration of the diagnosis. [14] The term "double jointed" is often used as a synonym for hypermobility[jmgims.co.in]
  • swelling [2] Clumsiness [2] Enhanced flexibility [3] Chronic pain [3] Little changes of the skin [8], [3] Greater risk in failures in tendon, ligament, bone, skin and cartilage [4] Functional gastro-intestinal disorders [5] Chronic headache [3], [5][physio-pedia.com]
Leg Pain
  • Symptoms are usually bilateral, in the low back, buttocks, or thighs, although some individuals may experience only leg pain and, in a few cases, the leg pain may be unilateral.[ssa.gov]
  • […] effusion of affected joint(s)- (foot, ankle, knee, hip, back, neck, shoulder, elbow, wrist, finger) [6] Back pain [2], [6] Osteoarthritis Delayed motor development Congenital hip dislocation Exercise-related/post-exercise-related pains [2] Nocturnal leg[physio-pedia.com]
  • More about leg pain Children with joint hypermobility may also experience back pain due to poor posture and muscle weakness.[skillsforaction.com]
Urinary Incontinence
  • The aim of our study was to determine whether lower urinary tract symptoms (LUTS), including urinary incontinence (UI) and anterior compartment prolapse, are more common in women with BJHS than in the normal population.[ncbi.nlm.nih.gov]
  • Conclusion: Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue[ncbi.nlm.nih.gov]
  • Both groups were asked to complete the Prolapse quality of life (P-QOL) and pelvic organ prolapse/urinary incontinence sexual (PISQ-12) questionnaires. MAIN OUTCOME MEASURES: Comparison of vaginal anatomy using POP-Q between the two groups.[ncbi.nlm.nih.gov]
  • incontinence that occurs because the pelvic floor muscles are too weak to prevent urination low blood pressure (hypotension), which may lead to fainting hernias - an internal part of the body, such as an organ, pushes through a weakness in the muscle[hse.ie]
  • incontinence that occurs because the pelvic floor muscles are too weak to prevent accidental urination hernias – an internal part of the body, such as an organ, pushes through a weakness in the muscle or surrounding tissue wall varicose veins – swollen[your.md]
Sexual Dysfunction
  • OBJECTIVE: To determine whether pelvic organ prolapse (POP) and sexual dysfunction are more severe in women with benign joint hypermobility syndrome (BJHS) than in the normal population. DESIGN: Case-control study.[ncbi.nlm.nih.gov]

Workup

The condition is often misdiagnosed as young children normally have an extensive range of motion at all their joints. The "Beighton score" has been used to diagnose hypermobility but the scores are variable depending on investigators. So currently the Villefranche classification [8] which includes clinical signs, family history, major and minor criteria is used for diagnosis. The major criteria are joint hyperlaxity, skin hyperextensibility, and no evidence of skin or soft tissue fragility. The minor criteria are a family history of the syndrome, recurrent joint instability, and the ability to bruise easily. Limitation of the Villefranche classification is that it does not account for extra-musculoskeletal manifestations.

The workup depends upon a detailed patient history, family history of joint hypermobility syndrome and thorough physical examination to look for hypermobile joints and signs of tissue fragility. Genetic testing may be useful in the diagnosis of the syndrome. Radiograph findings include small calcifications in the subcutaneous tissues. Magnetic resonance imaging can help to detect white matter lesions [9].

As gene mutations have not been identified as yet, prenatal testing cannot be recommended. However genetic counseling should be considered if there is a family history.

White Matter Lesions
  • Magnetic resonance imaging can help to detect white matter lesions. As gene mutations have not been identified as yet, prenatal testing cannot be recommended. However genetic counseling should be considered if there is a family history.[symptoma.com]
HLA-B27
  • […] coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27[ncbi.nlm.nih.gov]
HLA-A3
  • Hemochromatosis is a genetic disease related to human leukocyte antigen (HLA) A3, B7, and B14 histocompatability antigens resulting in increased iron absorption from the gastrointestinal tract and deposition of iron in tissues.[ncbi.nlm.nih.gov]

Treatment

  • There is a lack of evidence-based treatment approaches; a few studies have shown effect of physiotherapy. Many authors propose multidisciplinary treatment, but this has neither been described nor evaluated for this patient group.[ncbi.nlm.nih.gov]
  • All clinical trials comparing the clinical outcomes of Occupational Therapy and Physiotherapy interventions compared to non-treatment or control intervention for people with BJHS were included.[ncbi.nlm.nih.gov]
  • The main treatment is improving muscle strength and fitness so your joints are protected. Ask your GP to refer you to a physiotherapist or occupational therapist for specialist advice. You can also book them privately.[nhs.uk]
  • Abstract Taking into account the biomechanical peculiarities of ridetherapy, the specific methodology of ridetherapy developed by us is given in this paper, also the data of treatment have been studied in the dynamics.[ncbi.nlm.nih.gov]
  • Treatment modalities include patient education, activity modification, stretching and strengthening exercises for the affected joint, and osteopathic manipulative treatment.[web.archive.org]

Prognosis

  • We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain.[ncbi.nlm.nih.gov]
  • The prognosis for recovery from HMS is poor, but the education and psychological aspect is extremely beneficial to the patient's health and well-being. This case report identified a musician with CUWP and HMS.[ncbi.nlm.nih.gov]
  • The purpose of this case report is to present the patient examination, evaluation/diagnosis/prognosis, intervention, and outcome of a patient with hypermobility syndrome (HMS).[ncbi.nlm.nih.gov]
  • CLINICAL RELEVANCE: Individuals with TMD associated with JHS should be carefully evaluated by inter-disciplinary specialists as these factors may eventually have impact on the prognosis of TMDs and JHS.[ncbi.nlm.nih.gov]
  • Finally, primary care physicians are the best resource to educate patients with BJHS about their illness, potential complications, and prognosis.[web.archive.org]

Etiology

  • Some authors have defined joint hypermobility syndrome (JHS) as a condition which includes individuals with hypermobile joints accompanied by symptoms of unknown etiology.[symptoma.com]
  • Despite this, it is likely underdiagnosed by physicians due to its highly variable clinical presentation, absence of a confirmatory test, and controversies regarding its etiology and pathogenesis.[amjmed.org]
  • Etiology: It appears to be a genetically linked disorder of connective tissue. This is suggested by a strong family history. Family members may be asymptomatic yet exhibit the same connective tissue findings on examination.[rheumaknowledgy.com]
  • HMS also affects the joint position sense. [3] Epidemiology /Etiology Joint hypermobility happens most often in children and reduces with age. [5] Joint mobility is highest at birth, there is a decrease in children around nine to twelve years old.[physio-pedia.com]
  • Among studies examining the prevalence of generalized hypermobility in patients referred to rheumatologists, 5, 9 – 11 one study found that hypermobility occurred in 66% of school children with arthralgia of unknown etiology. 10 Another study showed a[web.archive.org]

Epidemiology

  • The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome.[jaoa.org]
  • […] higher. 2 Epidemiological studies suggest that patients of all races and age groups are affected, although it is more prevalent in children and adolescents, who tend to have greater mobility of joints. 3 Generalized joint hypermobility, that is, the[amjmed.org]
  • The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy.[tihcij.com]
  • Epidemiology of Generalized Joint Laxity (Hypermobility) in Fourteen-Year-Old Children From the UK:A Population-Based Evaluation.2011(Level of Evidence: 2B) 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 Celletti C.[physio-pedia.com]
  • The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.)[web.archive.org]
Sex distribution
Age distribution

Pathophysiology

  • We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain.[ncbi.nlm.nih.gov]
  • Further research is required to understand the pathophysiological basis of this association. 2015 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov]
  • Pathophysiology of Benign Joint Hypermobility Syndrome Why do some people have symptoms with hypermobile joints.[boneandspine.com]
  • […] chromosomal and genetic disorders such as Down syndrome and in metabolic disorders such as homocystinuria and hyperlysinemia. [4] Laboratory tests are used to exclude these other systemic disorders when HMS is suspected. [3] Clinically Relevant Anatomy The pathophysiology[physio-pedia.com]

Prevention

  • Evaluating patients for hypermobility in routine rheumatologic examination will prevent unnecessary diagnostic studies and treatments.[ncbi.nlm.nih.gov]
  • Is it possible to prevent joint hypermobility syndrome? Because joint hypermobility syndrome is inherited, it is not preventable.[rxlist.com]
  • CONCLUSIONS: Physiotherapy should be applied holistically to manage JHS as a long-term condition and should address injury prevention and symptom amelioration rather than cure.[ncbi.nlm.nih.gov]
  • LIMITATIONS: The studies used heterogeneous outcome measures, preventing pooling of results. Only one study was a true controlled trial which failed to report between-group statistical analyses post-treatment.[ncbi.nlm.nih.gov]

References

Article

  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. J Rheumatol. 2007;34:804–9.
  2. Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome. Musculoskeletal complaints associated with generalized joint hypermobility. Ann Rheum Dis. 1967;26:419–25.
  3. Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome. Man. Ther. 2007;12:298–309.
  4. Cattalini M, Khubchandani R, Cimaz R. When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children. Pediatr Rheumatol Online J. 2015; 13:40
  5. Simpson MR. Benign joint hypermobility syndrome: evaluation, diagnosis, and management. J Am Osteopath Assoc 2006;106:531-6.
  6. Hakim AJ, Cherkas LF, Grahame R, Spector TD, MacGregor AJ. The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum. 2004;50:2640–2644.
  7. Malfait F, Hakim AJ, De Paepe A, Grahame R. The genetic basis of the joint hypermobility syndromes. Rheumatology. 2006;45(5):502–7.
  8. Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J. Med Genet. 1998 Apr 28;77 (1): 31-7
  9. Hamonet C, Frédy D, Lefèvre JH, Bourgeois-Gironde S, Zeitoun JD. Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print. Orphanet J Rare Dis. 2016 Apr; 22. 11:45.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-06-28 10:39