What you need to know about hypermobile Ehlers-Danlos syndrome

Diagnosis and treatment of a rare disease you need to be aware of

STABILITY AND MOBILITY ARE KEY TENETS that define the quality of human movement. At the intersection of mobility and stability, movement (performance) is optimized. But when mobility dominates, stability movement is impaired, subjecting the body to pain and dysfunction that leads to disability.

For the average person, such impairment is often acquired over time and can be mitigated with exercise. However, certain conditions are inherited, as is the case with Ehlers-Danlos syndrome, a hypermobile disorder that affects roughly 3% of the population. 

Characteristics of Hypermobile Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is an umbrella term for 13 rare subtypes of inherited connective tissues disorders.  

EDS is characterized by: 

• Hypermobile joints that easily dislocate
• Translucent, hyperelastic skin that bruises easily 
• Fragile tissues and muscle weakness 
• Pain in joints and muscles 
• Excessive dilation and rupture of blood vessels 

Many of the subtypes of EDS are associated with specific gene mutations that affect collagen synthesis. However, researchers have not been able to identify a genetic basis for hypermobile EDS (hEDS), the most common subtype that accounts for 80-90% of all EDS cases. 

Diagnosing hEDS

Joint hypermobility is caused by connective tissues that are abnormally distensible and hyper-responsive to stress. People with hypermobile EDS are often called “double-jointed” because their joints are able to move beyond normal functional range of motion.  

Because symptoms of hEDS often overlap with other pain syndromes and disorders, such as fibromyalgia, diagnosis can be challenging. In 2017, the International EDS Consortium revised their diagnostic criteria for all 13 subtypes of EDS.  

According to 2017 international guidelines, clinical diagnosis of hypermobile EDS requires the simultaneous presence of three sets of criteria: 

1. Generalized joint hypermobility, as determined by the Beighton score. The Beighton score is a nine-point scoring system that measures joint flexibility of the thumbs, pinky fingers, knuckles, elbows, knees and spine. The higher the score, the greater the hypermobility. Criteria for hypermobile EDS diagnosis are scores of 6 or greater for children, 5 or greater for adults under 50, and 4 or greater for adults over 50.

2. At least two of the following features:

• Evidence of a generalized connective tissue disorder 
• Family history of HEDS 
• Absence of skin fragility and other heritable and acquired connective tissue disorders

3. Exclusion of other neuromuscular disorders based on history, physical exam or genetic testing. 

While not included in the consortium guidelines, coexisting symptoms may signal the presence of hEDS. Patients with hEDS often report fatigue, sleep disorders, gastrointestinal disorders, autonomic nervous system dysfunction, anxiety and depression. Children with hEDS are prone to sprains, growing pains and delays in development of fine motor skills. 

Since the revision of diagnostic criteria for hEDS in 2017, recent research has given deeper insight into the characteristics of hEDS muscle and connective tissue. Studies reveal that hEDS patients have reduced proprioception and reduced tension in the muscle-tendon complex, contributing to joint instability and hypermobility. 

New technology provides us with a valuable diagnostic tool for measuring and evaluating muscle and tendon stiffness, a mechanical property that provides passive joint support. Sonoelastography uses sound waves to assess the stiffness and elasticity of tissues in response to mechanical pressure.  

I use sonoelastography in my clinic to assess and rehabilitate tendon injuries and disorders. In the case of hEDS, sonoelastography provides me with an additional assessment tool for differential diagnosis of connective tissue disorders like hEDS. 

Exercise guidelines for hEDS

Physical exercise is often the first line of treatment for hEDS, aimed at strengthening muscles and connective tissues to promote stability and reduce joint subluxation.  

Therapists should follow these hEDS exercise guidelines: 

• Prioritize single-joint exercises over compound exercises 
• Use light weights and higher repetitions 
• Emphasize good form and control 
• Avoid joint hyperextension 
• Include rotator cuff exercises 
• Include stability exercises for knees and ankles 
• Use gentle stretching exercises with limited range of motion  

Before beginning physical therapy exercises, certain issues should be addressed, including global and local stability, load transfer failures, fascia restrictions, tendinopathies and nerve entrapment. Measures should be taken to mitigate pain before loading muscles and tendons.  

A unique approach to treating hEDS

Some clinics incorporate a combination of therapeutic and technological approaches to optimize stability in hEDS patients. One approach addresses the deep stabilization system of the entire body to establish a stable foundation. Important points include: 

• Dynamic Neuromuscular Stabilization (DNS) is an optimal approach for establishing global stability. DNS is one of the most evidence-based approaches when it comes to training and restoring global stability.  

• Dynamic ultrasonography is a great tool when it comes to identifying important load transfer failures in key joints or in the fascia system. Once we improve global stability and address failed load transfer, other unstable structures are able to improve.  

• A variety of approaches can be used for retraining local stability. It is important to understand that just because joints are hypermobile doesn’t mean fascia restrictions don’t exist. Remember, hEDS patients exhibit reduced proprioception, and proprioceptors are generously embedded in the fascia. Fascia release therapy is the most crucial component, as it is hard to build stability if your proprioception is off. 

• For fascia restrictions, the Stecco method is a manual approach to fascia release, supported by high-resolution ultrasonography. When combined with extracorporeal shockwave therapy (ESWT) and ultrasound-guided hydrodissection, Stecco therapy is highly effective for restoring fascia integrity.    

• Tendinopathies are common in hEDS. They can be successfully treated with regenerative therapies like focused ESWT. Eccentric loading protocols are also very important for restoring degenerative tendon tissue. To address capsular and ligamentous stability, I use ultrasound-guided prolotherapy, along with targeted ESWT.  

• Instability affects nervous tissue as well, creating nerve compression and entrapment that causes pain and inhibits nerves from gliding freely among other structures. Diagnostic ultrasonography is the best imaging modality for identifying nerve issues, and for visualizing structural and functional loss of control associated with failed load transfer.   

• A methodology for loading exercises, based on muscle and tendon fibroblast turnover, is applying focal cryotherapy prior to loading exercises to slow down fibroblast turnover to better allow for ligament and fascia proliferation. 

• Among various techniques and technologies to reduce pain and modulate the autonomic nervous system is TECAR therapy — particularly effective for calming hypersensitized nerves that exacerbate pain signals to the brain.  

While hEDS is the most common subtype of Ehlers-Danlos syndrome, it is still extremely rare, and many clinicians are stymied when confronted with a hypermobile patient.

LEV KALIKA, DC, is the owner of New York Dynamic Neuromuscular Rehabilitation & Physical Therapy (NYDN Rehab) in New York City, an Inc. 5000 clinic. He is internationally known for revolutionizing how musculoskeletal and motor disorders are treated by introducing dynamic neuromuscular stabilization (DNS) and groundbreaking technology to the United States, such as CAREN (computer assisted rehabilitation environment). He is an expert in the conservative treatment of back, hip, knee and shoulder pain, as well as sports injury disorders, with more than 30 published reviewed articles.

Resources

Alsiri, Najla, et al. “The impact of hypermobility spectrum disorders on musculoskeletal tissue stiffness: an exploration using strain elastography.” Clinical Rheumatology 38 (2019): 85-95. 

Rombaut, Lies, et al. “Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome.” Arthritis care & research 64.5 (2012): 766-772.