Ehlers-Danlos Syndrome Case Study

Keywords[edit | edit source]

Hypermobility; Ehlers-Danlos Syndrome; Joint pain; Multidisciplinary management

Word count[edit | edit source]


Author/s[edit | edit source]

Eliza Clark and Megan Kanter

Abstract[edit | edit source]

Ehlers-Danlos Syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility. Individuals with EDS demonstrate defects in the body's connective tissues, manifesting as altered strength, elasticity, integrity, and healing properties of the tissues.[1] This case was adapted from Bem-Haja et al case study by Bellarmine University Doctorate of Physical Therapy students Eliza Clark and Megan Kanter. This case discusses the presentation and physical therapy management of a 17 year old patient presenting with complaints of widespread joint pain, especially on knee, initially diagnosed as having "growing pains" by a pediatrician and then with the diagnostic hypothesis of EDS, based on symptoms, including chronic musculoskeletal pain, widespread muscle weakness and history of hypermobility.[2]

Introduction[edit | edit source]

This study discusses the widespread affects that EDS has on anyone with the disease, no matter the age. It will also discuss some of the interventions that physical therapy can provide to relieve pain and increase quality of life.

Case Presentation[3][edit | edit source]

Subjective: Patient is a 17 year old male who is 110.2lbs and 5ft 6in. Currently he is a junior in high school and was referred by his pediatrician to PT for hypermobility and growing pains. Patient presented to physical therapy complaining of widespread pain and fatigue for the past four years, especially in both knees. Patient stated pain worsening as the day progresses, associated to severe lower limbs weakness. Pain score varied from 5/10 to 8/10 on the numeric pain rating scale. Patient has had joint hypermobility history since childhood. Previous evaluation diagnosed the patient with ligament laxity. Other past medical history includes small stature at age 7 (treated with somatotropin) and depressive disorder. Recent laboratory, radiographic exams of feet and hands, and EMG were normal.

Objective: He presented with good general status and normal heart and lungs auscultations. Face and skin evaluation has shown eyelid sagging and dermal hyperelasticity around the joints. Musculoskeletal system had frequently sprained ankles and has a score of 6 on the Beighton diagnosis criteria (Table 1). Muscle weakness was found in hamstrings and quadriceps with a MMT of 4-/5. He presented with scoliosis, flat feet, and hypermobility of the knees, ankles, elbows, and joints of the hand. A recent knee MRI has shown bilateral loose bodies with increased joint fluid.

Demographic Information: 17 y/o male; Junior in high school
Medical Diagnosis: small stature and growing pains
Co-morbidities: Depressive disorder, hypermobility
Previous care or treatment: Treatment for small stature with somatotropin
Self-Report Outcome Measures: Pain at rest 5/10; Pain at most 8/10
Physical Performance Measures: Functional Gait Assessment (19, struggled with the coordination of stepping around and over obstacles), Multi-dimensional Fatigue Inventory Short Form (84, moderate fatigue throughout most days of the week), bilateral hamstring and quadriceps MMT 4-/5, ROM excessive in all joints

Table 1: Beighton Diagnostic Criteria for Joint Hypermobility

Able to: Right Left
Passive dorsiflexion of fifth metacarpal bone >90˚ 1 1
Oppose the thumb to the volar aspect of the ipsilateral forearm 1 1
Hyperextend the elbow >10˚ 1 1
Hyperextend the knee >10˚ 1 1
Put the hands flat on the floor without bending the knees 1
Total 9

Clinical Impression[edit | edit source]

Pt had bilateral hypermobility, global fatigue, hamstring and quadriceps weakness, depression, and integumentary changes. Based on his clinical history and physical evaluation, in addition to Beighton’s criteria, patient was referred to a rheumatologist and diagnosed with hypermobility-type Ehlers-Danlos Syndrome. Pt will be seen by PT for 6 weeks for LE strengthening, joint stabilization exercises, dynamic balance, and education of the disease presentation.

Intervention[edit | edit source]

Patient Education: monitoring RPE for intensity and vitals, safety precautions to reduce injury and bruising, using larger joints for heavy lifting/stress to promote joint protection

Resistance Training: to include Core stability to promote proximal stabilization Strengthening quadriceps and hamstrings in the full hypermobile ROM 2 sets of 16 reps at 60% 1RM

Progression: Start with larger muscle groups and progress to smaller, increase weight, multi-planar strengthening and functional activities

  • Short arc quad, terminal knee extensions, mini squats,
  • TheraBand hamstring curls in sitting/standing
  • Single leg step ups, side steps with theraband, monster walks, X-walks
  • Transversus abdominal contraction in supine, bridges, bridging heel slides, quadruped

Proprioceptive Training:

Narrow BOS Tandem stance SLS Foam, BAPS board, wobble board

Progression: Dynamic balancing incorporating his interests and relevant functional activities

Aerobic Training: Starting at 5 minutes and a low intensity Bicycling, elliptical, and/or walking

Progression: Progress up to 20 minutes at a moderate intensity, alternating mode of aerobic training 

Plan of Care: 3x a week for 6 weeks

Outcomes[2][edit | edit source]

Patient was able to tolerate a 10 minute warm up on the bicycle after therapy for two weeks. Two weeks out, his pain decreased from a range of 5-8/10 to 3-5/10. Also, patient began regularly seeing his rheumatologist to control the medical aspect of his symptoms.

Outcome Measures at Discharge:

  • Functional Gait Assessment: 21
  • MFI-SF: 66
  • Quadriceps MMT: 4/5 bilaterally
  • Hamstrings MMT: 4/5 bilaterally

Discussion[2][edit | edit source]

Following discharge, patient was advised to return to physical therapy monthly for follow-ups, disease progression tracking, and reassessment of HEP and exercise management. Especially at an adolescence age, it is important to establish baselines and monitor developmental changes and responses of Ehlers-Danlos. The relationship between EDS and its affects during puberty is unknown.

EDS is still difficult for physicians and physical therapists alike. It's wide variety of symptoms and varying presentation between patients provides a sizeable challenge. There is no doubt that more research must be done to provide general guidelines for physical therapists. It is worth stressing, however, that most patients do not have such an effective response to medication use alone, but favorable outcomes are possible with a multidisciplinary approach that includes a tailored physical therapy program.

Acknowledgements[edit | edit source]

Case adapted from “Ehlers-Danlos Syndrome in Chronic Pain Patient: Case Report”[2]

Related Pages[edit | edit source]


[edit | edit source]

  1. Pessler S, Sherry DD. Ehlers Danlos Syndrome. The Merck Manual of Diagnosis and Therapy. (Accessed Feb 12, 2010).
  2. 2.0 2.1 2.2 2.3 Bem-Haja PL, Canga JC, Abreu YLD, Bedoni FM. Ehlers-Danlos syndrome in chronic pain patient. Case report. Revista Dor. 2016;17(2).
  3. Jacobsen PB, Stein KD. Multidimensional Fatigue Symptom Inventory--Short Form. PsycTESTS Dataset. 1998.