Clinic Case

Clinic CaseClinic Case

Alev Wilk, MDAlev Wilk, MD

Primary Care ConferencePrimary Care Conference

4/28/044/28/04

No conflict of interestNo conflict of interest

CasesCases

49 y.o. AA woman seen with a h/o 49 y.o. AA woman seen with a h/o multiple musculoskeletal symptomsmultiple musculoskeletal symptoms– Pain in lower back & neck, bilateral elbows & Pain in lower back & neck, bilateral elbows &

shoulders for months to yearsshoulders for months to years– PMH: Mild scoliosis, OA, lateral epicondylitis, PMH: Mild scoliosis, OA, lateral epicondylitis,

TMJ dysfunction, left shoulder tendonitis, TMJ dysfunction, left shoulder tendonitis, fibromyalgiafibromyalgia

– SH: Postal worker 5 yrs.; military service 9 SH: Postal worker 5 yrs.; military service 9 yrs.yrs.

– FH: possible Ehler-Danlos syndromeFH: possible Ehler-Danlos syndrome– PE: Musculoskeletal findings: hyperextension PE: Musculoskeletal findings: hyperextension

of MCP’s and thumbs; diffuse tendernessof MCP’s and thumbs; diffuse tenderness– Radiologic: osteoarthritic changes of the Radiologic: osteoarthritic changes of the

spinespine

CasesCases

39 y.o. woman seen for intermittent low 39 y.o. woman seen for intermittent low back pain:back pain:– 10-20 year h/o low back pain worse with 10-20 year h/o low back pain worse with

prolonged sitting & standingprolonged sitting & standing– PMH: de Quervain’s tenosynovitis, olecranon PMH: de Quervain’s tenosynovitis, olecranon

bursitis, fibromyalgia, umbilical herniabursitis, fibromyalgia, umbilical hernia– SH: cashier; gymnast as a teenagerSH: cashier; gymnast as a teenager– FH: noncontributoryFH: noncontributory– PE: musculoskeletal findings: marked elbow, PE: musculoskeletal findings: marked elbow,

knee, back extension, thumb appositionknee, back extension, thumb apposition– Radiologic: retrolisthesis at L3-4, mild DJDRadiologic: retrolisthesis at L3-4, mild DJD

CasesCases

27 y.o. woman seen for recurrent 27 y.o. woman seen for recurrent subluxation of her left shouldersubluxation of her left shoulder– Several year h/o of left shoulder pain with Several year h/o of left shoulder pain with

recurrent subluxationsrecurrent subluxations– PMH: right wrist and shoulder tendonitisPMH: right wrist and shoulder tendonitis– SH: school teacher; rock climbingSH: school teacher; rock climbing– FH: sister with repeated shoulder subluxationsFH: sister with repeated shoulder subluxations– PE: musculoskeletal: hyperextension at elbows PE: musculoskeletal: hyperextension at elbows

and knees. Tenderness over supraspinatus and knees. Tenderness over supraspinatus tendon. Skin: striae, hyperextensibilitytendon. Skin: striae, hyperextensibility

Case summaryCase summary

Joint HypermobilityJoint Hypermobility Soft tissue injuriesSoft tissue injuries Chronic painChronic pain OsteoarthritisOsteoarthritis

ObjectivesObjectives

Presentation, diagnosis, Presentation, diagnosis, prevalence of joint hypermobility prevalence of joint hypermobility syndromesyndrome

Relationship to associated Relationship to associated conditions (soft tissue injury, conditions (soft tissue injury, chronic pain, osteoarthritis)chronic pain, osteoarthritis)

Treatment of associated Treatment of associated conditions when presentconditions when present

PresentationPresentation

Musculoskeletal symptoms in Musculoskeletal symptoms in presence of joint laxitypresence of joint laxity

Heritable disorder of connective Heritable disorder of connective tissuetissue

Identical to the hypermobility type of Identical to the hypermobility type of Ehler-Danlos syndrome (EDS type III)Ehler-Danlos syndrome (EDS type III)

Mechanism of injury: Mechanism of injury: Increased Increased ligamentous laxityligamentous laxity; decreased joint ; decreased joint proprioceptionproprioception

DiagnosisDiagnosis

Nine-Point Beighton hypermobility score*Nine-Point Beighton hypermobility score*– Passive dorsiflexion of the Passive dorsiflexion of the

metacarpophalangeal joint to 90 degreesmetacarpophalangeal joint to 90 degrees– Apposition of the thumb to the flexor aspect of Apposition of the thumb to the flexor aspect of

the forearm the forearm – Hyperextension of the elbow to Hyperextension of the elbow to >> 10 degrees 10 degrees – Hyperextension of the knee to Hyperextension of the knee to >> 10 degrees 10 degrees– Forward trunk flexion with hands flat on the Forward trunk flexion with hands flat on the

floor and with knees extendedfloor and with knees extended

*Ann Rheum Dis 1973;32:413-7

Revised diagnostic Revised diagnostic criteriacriteria Major criteriaMajor criteria

– Beighton score of 4/9 or greaterBeighton score of 4/9 or greater– Arthralgia for longer than 3 months in 4 Arthralgia for longer than 3 months in 4

or more jointsor more joints Minor criteriaMinor criteria

– Beighton score of 1,2 or 3/9Beighton score of 1,2 or 3/9– Arthralgia (Arthralgia (>>3 mo) in 1-3 joints, or back 3 mo) in 1-3 joints, or back

pain, spondylosis, pain, spondylosis, spondylolysis/listhesisspondylolysis/listhesis

– Dislocation/subluxation in more than Dislocation/subluxation in more than one joint, or in one joint on more than one joint, or in one joint on more than one occasionone occasion

– Soft tissue rheumatism Soft tissue rheumatism >> 3 lesions 3 lesions

Revised diagnostic Revised diagnostic criteriacriteria Minor criteria continuedMinor criteria continued

– Maranoid habitus (tall, slim, span/height Maranoid habitus (tall, slim, span/height > 1.03, arachnodactyly)> 1.03, arachnodactyly)

– Abnormal skin: striae, hyperextensibility, Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarringthin skin, papyraceous scarring

– Eye signs: drooping eyelids or myopia or Eye signs: drooping eyelids or myopia or antimongoloid slantantimongoloid slant

– Varicose veins or hernia or uterine/rectal Varicose veins or hernia or uterine/rectal prolapseprolapse

2 major criteria or one major and 2 minor 2 major criteria or one major and 2 minor criteria; 4 minor criteria or 2 minor and criteria; 4 minor criteria or 2 minor and

an affected first-degree relativean affected first-degree relative

PrevalencePrevalence

5-13% in childhood5-13% in childhood 4-5% in the general population4-5% in the general population 13-15% in rheumatology clinics13-15% in rheumatology clinics Higher rates reported in womenHigher rates reported in women Higher rates reported in West Higher rates reported in West

Africans & Middle-Eastern womenAfricans & Middle-Eastern women

Benign Condition?Benign Condition?

Heritable Disorder of Connective Heritable Disorder of Connective TissueTissue

Hypermobility syndromeHypermobility syndrome Benign Joint Hypermobility Benign Joint Hypermobility

SyndromeSyndrome MechanismsMechanisms

– Increased ligamentous laxity may lead Increased ligamentous laxity may lead to soft tissue pain/ligamentous injuryto soft tissue pain/ligamentous injury

– Decreased proprioception of Decreased proprioception of hypermobile jointshypermobile joints

Associated conditionsAssociated conditions

Tendency towards dislocationTendency towards dislocation Traumatic synovitisTraumatic synovitis Chronic joint painChronic joint pain Fibromyalgia and depressionFibromyalgia and depression Premature osteoarthritisPremature osteoarthritis

Bridges AJ et al. Joint hypermobility Bridges AJ et al. Joint hypermobility in adults referred to rheumatology in adults referred to rheumatology

clinics. clinics.

130 adult patients referred to a 130 adult patients referred to a rheumatology clinic with rheumatology clinic with musculoskeletal problemsmusculoskeletal problems

97 women, 33 men97 women, 33 men Beigton score Beigton score >> 5 out of 9 5 out of 9 Exclusion criteria: signs of Ehler-Exclusion criteria: signs of Ehler-

Danlos syndrome (EDS)Danlos syndrome (EDS)

Annals of the Rheumatic Diseases 1992;51:793-796Annals of the Rheumatic Diseases 1992;51:793-796

Bridges AJ et al.Bridges AJ et al.ResultsResults 15% had joint hypermobility15% had joint hypermobility Average Beighton score of 8; average Average Beighton score of 8; average

age of 50; hypermobile features since age of 50; hypermobile features since childhoodchildhood

All cases of hypermobility were womenAll cases of hypermobility were women 65% had a FH of joint hypermobility in 65% had a FH of joint hypermobility in

a first degree relativea first degree relative Trunk hypermobility was noted in Trunk hypermobility was noted in

younger patients (average age of 37 younger patients (average age of 37 y.o.)y.o.)

Bridges AJ et al.Bridges AJ et al.

50% had hypermobility of the 50% had hypermobility of the fingers & ankles, 35% of the hips.fingers & ankles, 35% of the hips.

85% flat feet85% flat feet 35% scolioisis35% scolioisis 40% soft tissue injury40% soft tissue injury 60% OA 60% OA 30% fibromyalgia30% fibromyalgia

Hudson N et al* Diagnostic Hudson N et al* Diagnostic associations with hypermobility associations with hypermobility in rheumatology patients. in rheumatology patients.

378 consecutive referrals to a 378 consecutive referrals to a rheumatology clinicrheumatology clinic

Beighton score of four or greater Beighton score of four or greater out of nine.out of nine.

Assessed by physical exam and Assessed by physical exam and physical activity, leisure and workphysical activity, leisure and work

Brit J of Rheumatology 1995;34:1157-61

Hudson et al.Hudson et al.

13.2% fulfilled criteria for hypermobility13.2% fulfilled criteria for hypermobility 94% of the patients were women (73% in 94% of the patients were women (73% in

the control group); average age 45 y.o.the control group); average age 45 y.o. 26% had tendonitis, bursitis or fasciitis 26% had tendonitis, bursitis or fasciitis

(17% in the control group)(17% in the control group) 30% fit diagnositic criteria for fibromyalgia 30% fit diagnositic criteria for fibromyalgia

syndrome, the most frequent diagnosis (8% syndrome, the most frequent diagnosis (8% in the control group)in the control group)


15% with axial or spinal 15% with axial or spinal complaints (15% in the control complaints (15% in the control group)group)

7% with OA (19% in the control 7% with OA (19% in the control group)group)

4% with inflammatory 4% with inflammatory arthropathy (32% in the control arthropathy (32% in the control group)group)


Pain breakdown:Pain breakdown:– Widespread in 44%Widespread in 44%– Multiple localized sites in 44%Multiple localized sites in 44%– Single site in 13%Single site in 13%– Spinal-neck in 37%Spinal-neck in 37%– Spinal-midthoracic & low back in 80%Spinal-midthoracic & low back in 80%– Tendonitis (previous and present) in Tendonitis (previous and present) in

63%63%

Living with Living with Hypermobility*Hypermobility* Everyday activities carry the price Everyday activities carry the price

of painof pain– ADL’sADL’s– Repetitive movementRepetitive movement

Absenteeism from workAbsenteeism from work Adverse effects on family and Adverse effects on family and

relationshipsrelationships Depression & isolation from pain Depression & isolation from pain

and disabilityand disability*Rheumatology 2001;40:487-489

Barriers to diagnosis Barriers to diagnosis and managementand management Patients generally look well and Patients generally look well and

present uniquelypresent uniquely Under-recognized and under-Under-recognized and under-

estimatedestimated Lack of a clear cause-and-effect Lack of a clear cause-and-effect

relationshiprelationship Non-specialized physical therapy Non-specialized physical therapy

can exacerbate symptomscan exacerbate symptoms

TreatmentTreatment

Specialized physiotherapySpecialized physiotherapy– Stabilizing lax joints with exercise to Stabilizing lax joints with exercise to

increase stability, reduce pain and increase stability, reduce pain and diminish hypermobilitydiminish hypermobility

– Improving proprioceptive acuityImproving proprioceptive acuity Drug therapyDrug therapy Cognitive-behavioral therapyCognitive-behavioral therapy Patient support groupsPatient support groups

SummarySummary

Joint hypermobility appears to be Joint hypermobility appears to be associated with multiple soft tissue associated with multiple soft tissue injuries, fibromyalgia and injuries, fibromyalgia and osteoarthritisosteoarthritis

Joint hypermobility is relatively Joint hypermobility is relatively common in populations with & common in populations with & without musculoskeletal symptoms.without musculoskeletal symptoms.

Joint hypermobility syndrome may Joint hypermobility syndrome may be a true entity but like fibromyalgia be a true entity but like fibromyalgia is difficult to assess and treat.is difficult to assess and treat.

ReferencesReferences

Hudson NHudson N. Fitzcharles MA. Cohen M. Starr MR. . Fitzcharles MA. Cohen M. Starr MR. Esdaile JM. The association of soft-tissue Esdaile JM. The association of soft-tissue rheumatism and hypermobility. British Journal rheumatism and hypermobility. British Journal of Rheumatology. 37(4):382-6, 1998 Apr.of Rheumatology. 37(4):382-6, 1998 Apr.

Acasuso-Diaz M. Collantes-Estevez E. Joint Acasuso-Diaz M. Collantes-Estevez E. Joint hypermobility in patients with fibromyalgia hypermobility in patients with fibromyalgia syndrome. Arthritis Care & Research. 11(1):39-syndrome. Arthritis Care & Research. 11(1):39-42, 1998 Feb.42, 1998 Feb.

Hudson N, Starr MR, Esdaile JM, Fitzcharles MA. Hudson N, Starr MR, Esdaile JM, Fitzcharles MA. Diagnostic association hypermobility in Diagnostic association hypermobility in Rheumatology Patients. British J of Rheumatology Patients. British J of Rheumatology 1995;34:1157-1161.Rheumatology 1995;34:1157-1161.

Bridges AJ, Smith E, Reid J. Joint hypermobility Bridges AJ, Smith E, Reid J. Joint hypermobility in adults referred to rheumatology clinics. in adults referred to rheumatology clinics. Annals of the Rheumatic Diseases Annals of the Rheumatic Diseases 1992;51:793-796.1992;51:793-796.


Gurley-Green S. Living with the hypermobility Gurley-Green S. Living with the hypermobility syndrome. Rheumatology 2001;40:487-489.syndrome. Rheumatology 2001;40:487-489.

Grahame R, et al. The Revised (Brighton 1998) Grahame R, et al. The Revised (Brighton 1998) Criteria for the Diagnosis of Benign Joint Criteria for the Diagnosis of Benign Joint Hypermobility Syndrome (BJHS). J of Hypermobility Syndrome (BJHS). J of Rheumatology 2000;27:7.Rheumatology 2000;27:7.

Mishra MB, Ryan P, Atkinson P, et al. Extra-Mishra MB, Ryan P, Atkinson P, et al. Extra-articular feature of benign joint hypermobility articular feature of benign joint hypermobility syndrome. Br J Rheumatol 1996;35:861-6.syndrome. Br J Rheumatol 1996;35:861-6.

Larsson LG, Mudholkar GS, Baum J, Srivastava Larsson LG, Mudholkar GS, Baum J, Srivastava DK. Benefits and liabilities of hypermobility in DK. Benefits and liabilities of hypermobility in the back pain disorders of industrial workers. the back pain disorders of industrial workers. Journal of Internal Medicine 1995;238:461-467.Journal of Internal Medicine 1995;238:461-467.


Larsson LG, Baum J, Mudholkar GS, Kollia GD. Larsson LG, Baum J, Mudholkar GS, Kollia GD. Benefits and disadvantages of joint Benefits and disadvantages of joint hypermobility among musicians. N Engl J Med hypermobility among musicians. N Engl J Med 1993;329:1079-81.1993;329:1079-81.

Fitzcharles MA. Is Hypermobility a Factor in Fitzcharles MA. Is Hypermobility a Factor in Fibromyalgia. J of Rheumatology 2000;27:7.Fibromyalgia. J of Rheumatology 2000;27:7.

Al-Rawi ZS, Al-Aszawi AJ, Al-Chalabi T. Joint Al-Rawi ZS, Al-Aszawi AJ, Al-Chalabi T. Joint mobility among university students in Iraq. Br mobility among university students in Iraq. Br J Rheumatol 1985;24:326-31.J Rheumatol 1985;24:326-31.

Birrell FN, Adebajo AO et al. High prevalence Birrell FN, Adebajo AO et al. High prevalence of joint laxity in West Africans. Br J of joint laxity in West Africans. Br J Rheumatol 1994;33:56-9.Rheumatol 1994;33:56-9.

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