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10 - 12

Years

Average number of years for patients to get diagnosed 

70%

Female

Percentage of patients with hEDS who are female

1 / 5,000

Number

1 in every 5,000 patients worldwide suffer from EDS

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a genetic connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and other systemic manifestations. hEDS is primarily caused by mutations in the genes encoding collagen, particularly COL5A1 and COL5A2, which are involved in the production of type V collagen. These mutations result in abnormal collagen structure and function, leading to the characteristic features of hEDS.

It is considered to be one of the most common subtypes of Ehlers-Danlos syndrome (EDS), and it is believed to affect a significant number of people worldwide. The prevalence of this rare condition is estimated to affect anywhere from 1 in 5,000 to 1 in 20,000 individuals in the U.S.

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Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function 

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Clinically, the condition is associated with the following clinical features:

 

Joint Hypermobility: Excessive joint mobility, joint pain, instability, and recurrent dislocations or subluxations are hallmark features of hEDS.

 

Skin Manifestations: Skin hyperextensibility, easy bruising, and delayed wound healing may occur in individuals with hEDS.

 

Musculoskeletal Symptoms: Chronic musculoskeletal pain, fatigue, myalgia, and fibromyalgia-like symptoms are common in hEDS.

 

Other Systemic Involvement: Gastrointestinal symptoms (e.g., irritable bowel syndrome), autonomic dysfunction, cardiovascular abnormalities, and neurologic manifestations (e.g., dysautonomia, neuropathy) may also be present in some individuals with hEDS.

Diagnosis of hEDS is based on clinical evaluation, including assessment of the Beighton score for joint hypermobility, family history, and exclusion of other connective tissue disorders. Genetic testing may be considered in some cases to confirm the diagnosis.

Management of hEDS requires a multidisciplinary approach involving various healthcare professionals, including rheumatologists, geneticists, physiotherapists, occupational therapists, pain specialists, and other specialists as needed. Analgesic medications, physical therapy, and other modalities may be used to manage musculoskeletal pain and improve joint stability. Orthotic devices, bracing, and assistive devices may help support unstable joints and reduce the risk of injury.  Targeted exercises, stretching, and strengthening programs prescribed by a physical therapist can help improve joint function, stability, and muscle strength.

Education for hypermobility management involves joint protection strategies. These strategies typically focus on education on joint protection techniques, ergonomic modifications, and activity modification to minimize joint stress and prevent injury. Additionally, pacing and energy conservation is also a focus. This includes teaching individuals with hEDS to balance activity and rest, avoid overexertion, and manage fatigue effectively.

 

Currently there are no specific pharmacological treatments approved for the management of hypermobile Ehlers-Danlos syndrome (hEDS) itself. However, medications may be prescribed to help alleviate certain symptoms and manage complications associated with the condition. These include pain medications such as non-steroidal anti-inflammatory drugs (NSAIDs), acetaminophen, and other analgesics may be prescribed to manage musculoskeletal pain and discomfort. Other pharmacological treatments are system-specific and target either the symptoms or comorbidities associated with hEDS including gastrointestinal motility agents for irritable bowel syndrome or dysautonomia medications for autonomic dysfunction.

 

The choice of pharmacological interventions depends on the individual's specific symptoms, comorbidities, and treatment goals. It's important to note that pharmacological treatments for hEDS are generally aimed at symptom management rather than addressing the underlying connective tissue abnormalities.

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EDS affects virtually every organ system, which can result in significant morbidity and mortality

Resources

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