Ehlers-Danlos Syndrome Case Study

Author/s

Eliza Clark and Megan Kanter

Abstract

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. 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.

Introduction

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

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

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 2 months for LE strengthening, joint stabilization exercises, dynamic balance, and education of the disease presentation.

Related Pages

www.physio-pedia.com/Ehlers-Danlos_Syndrome