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Hypermobile Ehlers-Danlos Syndrome: Symptoms and Risks
Hypermobile EhlersDanlos Syndrome is a genetic connective tissue disorder that affects the body's ability to produce strong collagen. Collagen is an essential protein that provides structure and support to various tissues in the body, such as skin, joints, and blood vessels. In individuals with Hypermobile EhlersDanlos Syndrome, the collagen is weaker than normal, leading to increased joint hypermobility and instability. This can impact daily activities and overall quality of life, affecting mobility and sometimes causing pain or discomfort.
What are the Symptoms of Hypermobile Ehlers-Danlos Syndrome?
Individuals with Hypermobile EhlersDanlos Syndrome commonly experience a range of physical symptoms affecting various parts of the body due to a genetic connective tissue disorder.
- Joint hypermobility
- Joint instability
- Chronic joint pain
- Fatigue
- Easy bruising
- Skin that is soft, velvety, or fragile
- Digestive issues
- Cardiovascular problems
- Anxiety and depression
- Delayed wound healing
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Get Second OpinionCauses of Hypermobile Ehlers-Danlos Syndrome
Hypermobile EhlersDanlos Syndrome is primarily caused by genetic mutations that affect the structure and production of collagen in the body.
- Genetic mutations
- Inherited from parents
- Abnormal collagen production
- Connective tissue disorder
- Collagenrelated gene mutations
- Faulty collagen structure
- Defective connective tissue formation
Types of Hypermobile Ehlers-Danlos Syndrome
Hypermobile EhlersDanlos Syndrome can manifest in various ways, impacting the joints, skin, and other bodily structures.
- Classical Type: Characterized by joint hypermobility, skin hyperextensibility, and fragility.
- Hypermobility Type: Mainly involves joint hypermobility, chronic pain, and fatigue.
- Vascular Type: Associated with serious complications like arterial and organ rupture due to fragile blood vessels.
- Kyphoscoliotic Type: Features severe curvature of the spine (kyphoscoliosis) and joint hypermobility.
- Arthrochalasia Type: Involves severe joint hypermobility and congenital hip dislocation.
Risk Factors
Hypermobile EhlersDanlos Syndrome risk factors include a family history of the condition, genetics, and certain environmental factors that can influence collagen production in the body.
- Genetic predisposition
- Family history of the condition
- Female gender
- Prior joint injury
- Repetitive joint stress
- Certain physical activities or sports
- Occupational factors
- Certain medical conditions, such as Marfan syndrome
- Certain medications, such as corticosteroids
- Hormonal factors
- Aging process
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Diagnosis of Hypermobile Ehlers-Danlos Syndrome
Hypermobile EhlersDanlos Syndrome is typically diagnosed through a combination of physical examination, medical history review, and specialized tests.
- Beighton Score
- Genetic Testing
- Clinical Examination
- Family History Analysis
- Skin Biopsy
Treatment for Hypermobile Ehlers-Danlos Syndrome
Hypermobile EhlersDanlos Syndrome is typically managed through a multidisciplinary approach that focuses on symptom relief and improving quality of life.
- Physical Therapy: Physical therapy focuses on strengthening muscles, improving joint stability, and enhancing overall function in individuals with Hypermobile EhlersDanlos Syndrome.
- Pain Management: Pain management strategies, including medications, lifestyle modifications, and alternative therapies, aim to alleviate chronic pain associated with Hypermobile EhlersDanlos Syndrome.
- Orthopedic Interventions: Orthopedic interventions such as bracing, splinting, or surgical procedures may be considered to address joint instability and prevent further damage in individuals with Hypermobile EhlersDanlos Syndrome.
- Occupational Therapy: Occupational therapy helps individuals with Hypermobile EhlersDanlos Syndrome learn adaptive strategies for daily activities, improve joint protection techniques, and enhance overall quality of life.
- Genetic Counseling: Genetic counseling provides individuals and families with information about the genetic basis of Hypermobile EhlersDanlos Syndrome, as well as guidance on family planning and potential risks.
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040-68334455Frequently Asked Questions
What is Hypermobile EhlersDanlos Syndrome (hEDS)?
Hypermobile EhlersDanlos Syndrome is a genetic connective tissue disorder that affects the body's collagen, leading to joint hypermobility and skin fragility.
What are the common symptoms of hEDS?
Common symptoms of hEDS include joint hypermobility, chronic pain, easy bruising, skin that is soft and velvety to the touch, and gastrointestinal issues.
How is Hypermobile EhlersDanlos Syndrome diagnosed?
Diagnosis of hEDS involves a physical examination, family history assessment, and may also include genetic testing and imaging studies to confirm the presence of the condition.
What are the treatment options for individuals with hEDS?
Treatment for hEDS focuses on managing symptoms and may include physical therapy, pain management, bracing or splinting, and lifestyle modifications to prevent injuries.
Are there any complications associated with Hypermobile EhlersDanlos Syndrome?
Individuals with hEDS may be at risk for developing complications such as joint dislocations, chronic pain conditions, orthostatic intolerance, and gastrointestinal issues. Regular monitoring and management can help reduce these risks.
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