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Differential Diagnosis of a Patient with Shoulder Pain 1 Sara Galante, SPT UNC Division of Physical Therapy Tell me whats going on today? 40 yof R shoulder pain Onset 1 mon ago Grinding quality Sensation of joint


  1. Differential Diagnosis of a Patient with Shoulder Pain 1 Sara Galante, SPT UNC Division of Physical Therapy

  2. Tell me what’s going on today? – 40 yof – R shoulder pain – Onset 1 mon ago – “Grinding quality” – Sensation of joint ”displacement” with lean to R side – Chronic joint pain

  3. – Chronic Joint pain at 12 yo Review of Systems – Injury-Prone Child – GI Problems (IBS) – Orthostatic – Type 2 Diabetes hypotension PMH – TMJ Dysfunction – Hyperlipidemia – Chronic Headache – Vitamin D Deficiency – Chronic Joint Pain – Sensitive, Itchy & Fatigue Skin – Daughter tested for POTS

  4. The Beighton Scoring B 5 th digit ext – Normal Strength 1. to dorsum of Throughout L hand – Pain with palpation to R Objective 2. Thumb to Rotator Cuff forearm B Exam – Integumentary 3. Elbow hyper- – Abnormally soft skin extension ! – Flexible and Hypermobile 4. Knee hyper- – Outcome Measure? extension 5. Palms flat on ! floor Total = 5/9

  5. – 5/9 Beighton Score – Hx of widespread joint pain Ehlers- – Spontaneous joint injury – Fatigue Danlos – TMJ dysfunction Diagnosis? Syndrome – Soft skin (Hypermobility – Postural hypotension – IBS Type) – Chronic Headache – Family hx?

  6. Ehlers-Danlos Syndrome (EDS) – Group of heritable connective tissue disorders, caused by abnormal collagen formation 1 – 2017 criteria divided EDS into 13 types 2 – Substantial overlap between EDS types and other CT disorders 3 – Prevalence : 1 : 5,000 people 2,4 – RF : non-white, female, family hx 2 Zhou et al. 2018

  7. – Disagreement in the literature regarding difference between Joint Hypermobility Syndrome (JHS) and hEDS – Joint hypermobility is a symptom (Marfan, Loey-Dietz) 5 – Consider a continuum of hypermobility 3-5 Increasing severity of s/s h EDS Asymptomatic Symptomatic hEDS Joint Hypermobility Joint Hypermobility – Functional defect in collagen affects all organs with presence of collagen 2 – Joints, ligaments, skin, tendons, blood vessels, GI tract, etc. – Individual manifestations will vary 2

  8. 2017 Clinical Diagnosis Tool 3,5 *Unlike the other 12 types – (presence of 3 criteria) of EDS, there is no known genetic marker to 1. Generalized Joint Hypermobility diagnose hEDS. – Beighton Score 2. At least 2 of the following: – Systemic Manifestations of CT disorders Diagnostic – Positive Family Hx – MSK Complications Criteria for 3. Absence of excessive skin fragility, exclusion of other CT hEDS disorders or other causes of hypermobility

  9. S/S & Comorbidities – Pain (B, Chronic) – Headache – Kinesiophobia – TMJ Dysfunction – Soft, ”velvety” skin – Sleep Disturbances – Fatigue – Depression – POTS – Anxiety – Orthostatic Intolerance – Pelvic Floor Dysfunction – GI Disorders – Proprioception & Balance Problems – Hx of dislocations – OA Zhou et al. 2018

  10. S/S & Comorbidities – Pain (B, Chronic) – Headache – Kinesiophobia – TMJ Dysfunction – Soft, ”velvety” skin – Sleep Disturbances – Fatigue – Depression – POTS – Anxiety – Orthostatic Intolerance – Pelvic Floor Dysfunction – GI Disorders – Proprioception & Balance Problems – Hx of dislocations – OA Zhou et al. 2018

  11. S/S & Comorbidities – Pain (B, Chronic) – Headache – Kinesiophobia – TMJ Dysfunction – Soft, ”velvety” skin – Sleep Disturbances – Fatigue – Depression – POTS – Anxiety – Orthostatic Intolerance – Pelvic Floor Dysfunction – GI Disorders – Proprioception & Balance Problems – Hx of dislocations – OA Zhou et al. 2018

  12. Cardiology à rule out vascular involvement (aortic root dilation) Finally having a diagnosis changed Pain clinic à everything! pharmacotherapy Rheumatologist à Revisiting screening for arthritis PT à pain management & pt education our Patient 1 EDS is often unrecognized for years, making the pt feel discredited and isolated

  13. PT Treatment 2,6 Most undiagnosed cases of – Pt education hEDS will warrant a non- – Pain management immediate physician – Lifestyle referral. Modifications Referrals & Pt presents with s/s that – Low-impact would require emergent resistance training Treatment management in the – Proprioception general population training (dislocated shoulder, – Bracing, Splinting syncope) make an immediate medical **PT should be aware of referral. potential complications and monitor patient closely

  14. Strengths Weaknesses • Good case overview & • No PT perspective pathology description • Old EDS Classification • Pt presentation System matches s/s & • Did not use specific Article Review 1 comorbidities EDS Diagnostic • Fantastic clinical Criteria reasoning • No Differential Dx List • Includes treatment • Level 5 Evidence and psychosocial impacts of disease

  15. – Questions?

  16. Bibliography 1. Cohen S, Markham F. Ehlers-Danlos hypermobility type in an adult with chronic pain and fatigue: a case study. Clin. Case Rep. 2017;5(8):1248-1251. doi:10.1002/ccr3.1046. 2. Zhou Z, Rewari A, Shanthanna H. Management of chronic pain in Ehlers-Danlos syndrome: Two case reports and a review of literature. Medicine 2018;97(45):e13115. doi:10.1097/MD.0000000000013115. 3. What are the Ehlers-Danlos Syndromes? | The Ehlers Danlos Society : The Ehlers Danlos Society. Available at: https://www.ehlers-danlos.com/what-is-eds/. Accessed February 8, 2019. 4. Tinkle B, Castori M, Berglund B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am. J. Med. Genet. C, Semin. Med. Genet. 2017;175(1):48-69. doi:10.1002/ajmg.c.31538. 5. Brody L, Thein-Nissenbaum J. How Loose is TOO Loose? The Female Athlete and Hypermobility. APTA Combined Sections Meeting 2019. 6. Engelbert RHH, Juul-Kristensen B, Pacey V, et al. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. Am. J. Med. Genet. C, Semin. Med. Genet. 2017;175(1):158-167. doi:10.1002/ajmg.c.31545.

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