What is Ehlers?

Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder that affects connective tissues in the body. It can lead to various health issues due to the body's inability to produce strong collagen. This can cause joints to be hypermobile and skin to be overly elastic.

EDS is caused by a genetic mutation that affects collagen production. It can impact individuals in different ways, leading to a range of symptoms.

Symptoms of Ehlers

Ehlers-Danlos syndrome can cause symptoms like joint hypermobility, skin that bruises easily, and chronic pain. Some people with EDS experience frequent dislocations, fragile skin, and fatigue. Others may have digestive issues or cardiovascular problems. EDS can vary widely in severity and presentation. If you suspect you have EDS, consult a healthcare provider for proper evaluation and management.

Joint hypermobility, where your joints move beyond the normal range of motion, can lead to frequent dislocations or sprains.
Easy bruising or skin that is stretchy and fragile may be signs of Ehlers-Danlos syndrome, a connective tissue disorder.
Chronic joint pain, especially in the knees, shoulders, and hips, could indicate the presence of Ehlers-Danlos syndrome.
Fatigue and muscle weakness are common symptoms in individuals with Ehlers-Danlos syndrome, affecting daily activities and energy levels.
Gastrointestinal issues like acid reflux, bloating, and irritable bowel syndrome may also be experienced by individuals with Ehlers-Danlos syndrome.

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Causes of Ehlers

This results in hypermobility of joints, skin fragility, and other symptoms. EDS is caused by mutations in genes responsible for collagen production, leading to structural abnormalities in connective tissues throughout the body. Early diagnosis and management are crucial in improving the quality of life for individuals with EDS.

Ehlers-Danlos syndrome can be caused by genetic mutations that affect the production of collagen, a crucial protein for providing strength and elasticity to the skin, joints, and blood vessels.
Some individuals develop Ehlers-Danlos syndrome due to inheriting the condition from a parent who carries the gene mutation, leading to a higher risk of experiencing symptoms such as hypermobile joints and fragile skin.
Environmental factors, such as exposure to certain chemicals or toxins, may contribute to the development of Ehlers-Danlos syndrome in susceptible individuals by disrupting collagen synthesis or structure.

Types of Ehlers

Ehlers-Danlos syndrome (EDS) is classified into several types based on symptoms and genetic causes. The most common types include classical EDS, hypermobile EDS, and vascular EDS.

Each type has unique features, such as stretchy skin, joint hypermobility, and increased risk of organ and blood vessel rupture. Proper diagnosis and management are crucial for individuals with EDS to maintain their health and well-being.

Classical Ehlers-Danlos syndrome is characterized by hyperextensible skin, easy bruising, and joint hypermobility, often leading to joint dislocations and chronic joint pain.
Vascular Ehlers-Danlos syndrome is a rare form of the disorder that affects blood vessels, causing them to be fragile and prone to rupture, leading to life-threatening complications such as arterial dissections and aneurysms.
Kyphoscoliotic Ehlers-Danlos syndrome is a subtype that primarily affects the musculoskeletal system, resulting in severe curvature of the spine (kyphoscoliosis) and muscle weakness, leading to mobility difficulties.

Risk Factors

Risk factors for Ehlers-Danlos syndrome include a family history of the condition, as it can be inherited. Additionally, mutations in certain genes can contribute to the development of the syndrome.

Other factors such as gender (more common in females) and certain environmental influences may also play a role in increasing the risk of developing Ehlers-Danlos syndrome.

Genetic predisposition plays a significant role in the development of Ehlers-Danlos syndrome, with certain gene mutations increasing the risk of the condition.
Joint hypermobility, where joints can move beyond the normal range of motion, is a common risk factor for Ehlers-Danlos syndrome.
Previous history of joint injuries or dislocations can contribute to the weakening of connective tissues, increasing the likelihood of developing Ehlers-Danlos syndrome.
Hormonal factors, such as fluctuations in estrogen levels, may influence the elasticity and strength of connective tissues, potentially raising the risk of Ehlers-Danlos syndrome.

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Diagnosis of Ehlers

Your doctor will look for joint hypermobility, skin elasticity issues, and other symptoms. Genetic tests can confirm the presence of specific gene mutations associated with the syndrome. Early diagnosis is crucial for managing symptoms and preventing complications.

Physical Examination: Diagnosis of Ehlers-Danlos syndrome typically begins with a thorough physical examination by a healthcare provider to assess joint flexibility, skin elasticity, and other physical characteristics associated with the condition.
Genetic Testing: Genetic testing can help confirm a diagnosis of Ehlers-Danlos syndrome by identifying specific gene mutations that are known to cause the condition. This test may involve a blood sample or a saliva sample.
Skin Biopsy: A skin biopsy may be performed to examine the structure of collagen fibers in the skin, as abnormalities in collagen production are a hallmark feature of Ehlers-Danlos syndrome.

Treatment for Ehlers

Treatment options for Ehlers-Danlos syndrome focus on managing symptoms and preventing complications. This may include physical therapy, pain management, and medications to control symptoms. Lifestyle modifications such as avoiding activities that strain the joints and maintaining a healthy weight can also be beneficial.

In severe cases, surgery may be recommended to address specific issues. It is important to work closely with healthcare providers to develop a personalized treatment plan.

Physical therapy is a cornerstone of treatment for Ehlers-Danlos syndrome, focusing on strengthening muscles to support unstable joints and improve overall function.
Orthotic devices, such as braces or splints, can provide external support to help stabilize joints and reduce the risk of injury in individuals with Ehlers-Danlos syndrome.
Medications like nonsteroidal anti-inflammatory drugs (NSAIDs) or pain relievers may be prescribed to manage symptoms such as joint pain and inflammation associated with Ehlers-Danlos syndrome.
Lifestyle modifications, including avoiding high-impact activities and practicing joint protection techniques, can help individuals with Ehlers-Danlos syndrome prevent injuries and manage their condition effectively.

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Frequently Asked Questions

What early signs should I look for with ehlers?

Look for joint hypermobility, skin that bruises easily, chronic joint pain, and frequent dislocations as early signs of Ehlers-Danlos syndrome.

What are the recommended do's and don'ts for managing ehlers?

Do: Regular exercise, physical therapy. Don't: Engage in high-impact activities, ignore symptoms like joint pain or dislocations.

What are the potential complications of ehlers?

Potential complications of Ehlers-Danlos syndrome include joint dislocations, chronic pain, fragile skin that bruises easily, and cardiovascular issues.

What are the best ways to manage ehlers?

Managing Ehlers-Danlos syndrome involves physical therapy to strengthen muscles, wearing supportive braces, staying hydrated, and avoiding activities that strain joints.