Working Diagnosis:
The patient was diagnosed with bilateral patellar instability secondary to Ehlers Danlos.

Treatment:
The patient was referred to physical therapy. However, she did not receive satisfactory improvement in her patellar stability with non-operative therapy. Given the severity of her disease, she was referred to orthopedic surgery. She underwent simultaneous left femoral subtrochanteric osteotomy to correct her femoral antetorsion, left knee diagnostic arthroscopy, and left knee open medial patellofemoral ligament (MPFL) reconstruction with hamstring allograft.

Outcome:
The patient recovered extremely well and began a physical therapy regimen. She no longer experienced patellar subluxation episodes. At just under three months, she achieved full range of motion of her left knee. Due to the successful treatment of her left knee, the patient consented to receiving the same surgeries contralaterally.

Author's Comments:
Hypermobile Ehlers Danlos syndrome (hEDS) is an autosomal dominant condition and considered the least severe type of EDS. Findings include joint laxity, hyperextensible skin, easy bruising, and chronic musculoskeletal pain. Additional clinical features include sleep disturbance, fatigue, postural orthostatic tachycardia, functional GI disorders, dysautonomia, and mood disorders. Dislocations that occur spontaneously or with minimal trauma are also common and cause acute joint pain. Clinical diagnosis of hEDS requires the presence of three criteria: generalized joint hypermobility; evidence of syndromic features, musculoskeletal complications, or family history; and exclusion of alternative diagnoses.

Editor's Comments:
Hypermobile Ehlers Danlos syndrome is one of 13 types of EDS. The diagnosis is made based on clinical criteria, as there is no genetic testing currently available. In 2017 the International Ehlers Danlos Syndrome Consortium released revised diagnostic criteria for hEDS and recommended that the diagnosis only be assigned to patients who meet all of the following criteria:
Criterion 1: Generalized joint hypermobility as diagnosed with the Beighton score
Criterion 2: Two or more of the following features
systemic manifestations of a more generalized connective tissue disorder
positive family history of hypermobile Ehlers Danlos Syndrome (in one or more first degree relative)
musculoskeletal complications (ie recurrent joint dislocations, chronic pain)
Criterion 3: Absence of unusual skin fragility; the exclusion of other heritable and acquired connective tissue diseases; and the exclusion of alternative diagnoses that may also include joint hypermobility.


Children with hEDS may have pain that is exacerbated by activity and show lower rates of participation in sports. Adults with hEDS also frequently experience pain, which can be localized or widespread. Chronic pain is common in Ehlers Danlos syndromes and is difficult to treat. The management of chronic pain should be multidisciplinary, including physical therapy, cognitive behavioral therapy, and pharmacological treatments. Physical therapy should focus on core and joint stabilization and improved proprioception, while avoiding aggressive stretching that could lead to joint subluxation or dislocation.

Fatigue, dysautonomia, and GI symptoms are other findings that can be seen in patients with hEDS. The most common GI symptoms are reflux, abdominal pain and constipation or diarrhea. Adults with hEDS are also at higher risk of anxiety, depression, and panic disorders compared to their non-affected peers and should be screened for these conditions and treated appropriately.

References:
Chopra R, Tinkle B, Hamonet C, Gompel B, Bulbena A, Francomano C. Pain management in the Ehlers-Danlos syndrome. Am J Med Genet Part C Semin Med Genet. 2017;175(C):212-219.
Engelbert RH, Juul-Kristensen B, Pacey V, et al. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hyepermobility syndrome/hypermobile Ehlers Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1):158-167.
Malfait F, Francomano C, Byers P, et al. The 2017 International classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26.

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