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I. History of EDS

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  • Ehlers-Danlos syndrome was first described by Edvard Ehlers in 1901 and later by Henri-Alexandre Danlos in 1908.

  • Over the years, the understanding of EDS has evolved, and multiple subtypes have been identified.

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II. Types of EDS

The current classification system recognizes several subtypes of EDS, including:​

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  • Classical EDS (cEDS):

    • Characterized by skin hyperextensibility, joint hypermobility, and tissue fragility.

    • Skin is often smooth, soft, and velvety with easy bruising.

    • Joint hypermobility may be present, but it is typically less pronounced than in hypermobility EDS.

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  • Hypermobility EDS (hEDS):

    • The most common subtype, primarily affecting joint hypermobility.

    • Individuals may experience chronic joint pain, joint dislocations, and soft tissue injuries.

    • Other symptoms may include skin involvement (hyperelasticity, stretch marks) and gastrointestinal issues.

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  • Vascular EDS (vEDS):

    • The most severe and potentially life-threatening subtype.

    • Characterized by fragile blood vessels and connective tissue, leading to arterial and organ ruptures.

    • Individuals often have thin, translucent skin, easy bruising, and characteristic facial features.

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  • Kyphoscoliotic EDS (kEDS):

    • Characterized by severe hypotonia (low muscle tone) at birth and progressive scoliosis.

    • Joint hypermobility, fragile skin, and easy bruising are also present.

    • Muscular weakness and respiratory issues may occur.

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  • Arthrochalasia EDS (aEDS):

    • Characterized by severe joint hypermobility, congenital hip dislocation, and joint deformities.

    • Skin hyperextensibility and tissue fragility are also present.

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Two types of aEDS exist, each caused by different gene mutations:

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  • Dermatosparaxis EDS (dEDS):

    • Characterized by extremely fragile, sagging skin that is highly prone to tearing and bruising.

    • Joint hypermobility and joint dislocations are common.

    • Other symptoms may include hernias and organ prolapse.

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  • Other rare types:

    • There are several other rare types of EDS, each with its own specific features and genetic mutations.

      • Examples include the rare cardiac-valvular EDS, spondylodysplastic EDS, and musculocontractural EDS.

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III. Diagnosis of EDS

  • The diagnosis of EDS is primarily based on clinical evaluation and family history.

  • The diagnostic criteria for each subtype are defined by specific clinical features, genetic testing, and exclusion of other connective tissue disorders.

  • The 2017 International Classification of EDS provides detailed diagnostic criteria for each subtype.

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IV. Statistics and Correlations

  • The prevalence of EDS varies depending on the subtype, ranging from approximately 1 in 5,000 to 1 in 200,000 individuals.

  • EDS affects individuals of all racial and ethnic backgrounds.

  • Some subtypes, such as vEDS, have a higher risk of life-threatening complications.

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V. Medical Treatment for EDS

  • Treatment for EDS focuses on managing symptoms and preventing complications.

  • Pain management with medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or opioids, may be prescribed.

  • Physical therapy, occupational therapy, and assistive devices can help manage joint instability and improve functionality.

  • Surgical interventions may be necessary for specific complications, such as joint dislocations or vascular issues.

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VI. Holistic Treatment for EDS

  • Holistic approaches can complement medical treatment for EDS and may include:

    • Gentle exercises and physical activities tailored to individual capabilities

    • Nutritional support, including a well-balanced diet and supplementation if needed

    • Mind-body practices, such as mindfulness, meditation, and stress management techniques

    • Complementary therapies like acupuncture, chiropractic care, or massage therapy

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It's important to note that treatment for EDS should be individualized based on the subtype and specific symptoms of each person. A multidisciplinary approach involving medical professionals, physical therapists, and other specialists is often beneficial for managing EDS effectively.

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