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Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The symptoms of EDS vary by type and range from mildly loose joints to serious complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Genetic changes in a variety of genes may lead to EDS. However, the underlying genetic cause in some families is unknown. Depending on the type, EDS may be inherited in an autosomal dominant or an autosomal recessive manner.

Ehlers-Danlos Syndromes

1

What are the symptoms of EDS?

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders. The symptoms of EDS can vary depending on the subtype and severity, but some common symptoms include:

  • Joint hypermobility or loose and unstable joints, which can lead to dislocations and chronic pain.

  • Skin that is easily bruised, stretched, or scarred, and may be thin or translucent.

  • Fragile blood vessels can lead to internal bleeding, as well as an increased risk of aneurysms and stroke.

  • A highly arched mouth can lead to crowding of teeth.

  • Digestive Problems such as reflux, constipation, and abdominal pain

  • Chronic Fatigue 

  • Chronic joint pain and dislocations

  • Autonomic nervous system problems

  • Mitral Valve Prolapse

  • Aortic Root Dilation

  • Chiari Malformation

  • Mast Cell Activation Syndrome

  • Curvature of the spine

Other symptoms may include problems with vision or hearing, periodontal disease, ​​or being diagnosed with one or more related conditions.

 

It is important to note that not all individuals with EDS will experience all of these symptoms, some individuals may have mild symptoms while others may have more severe symptoms. A proper diagnosis and management plan by a medical professional is essential for individuals with EDS.

2

How is EDS diagnosed?

The diagnosis of Ehlers-Danlos Syndrome (EDS) can be challenging because the symptoms can be similar to those of other connective tissue disorders. A diagnosis is usually made based on a combination of clinical evaluation, family history, and genetic testing. A physical exam by a doctor who specializes in connective tissue disorders is usually the first step. The doctor will look for signs and symptoms of EDS, such as joint hypermobility, skin hyperextensibility, and easy bruising.

If EDS is suspected, genetic testing may be done to confirm the diagnosis. There are currently 13 known subtypes of EDS, and genetic testing can help determine which subtype a person has. In some cases, a skin biopsy may also be performed to help with the diagnosis.

 

It's important to note that not all people with EDS will have a positive genetic test result, and a negative test result does not necessarily mean that a person does not have the condition. A diagnosis of EDS is ultimately made based on a combination of clinical evaluation and other diagnostic tests.

3

What treatments are available for EDS?

There is currently no cure for Ehlers-Danlos Syndrome, but treatment options aim to manage symptoms and improve quality of life. Treatment plans are individualized and may involve a combination of the following:

  1. Pain management: Pain is a common symptom of Ehlers-Danlos Syndrome and pain management strategies can include medications, physical therapy, and other therapies such as acupuncture.

  2. Physical therapy: Physical therapy can help improve strength, flexibility, and joint stability, which can reduce the risk of joint dislocations and other injuries.

  3. Surgery: In severe cases, surgery may be necessary to repair joint or tissue damage.

  4. Lifestyle modifications: Simple lifestyle modifications such as avoiding activities that strain the joints and using assistive devices such as braces or mobility aids can help manage symptoms and prevent further damage.

It's important to note that treatment plans will vary based on the specific type of Ehlers-Danlos Syndrome a person has and the severity of their symptoms. A healthcare provider with expertise in the condition can develop a personalized treatment plan for each individual.

Ehlers-Danlos Syndromes Subtypes

Ehlers-Danlos Syndromes (EDS) are a group of rare genetic disorders that affect the connective tissues in the body.

 

There are currently 13 recognized subtypes of EDS, each with its unique features and symptoms.

Hypermobile EDS is the most common subtype, accounting for 80-90% of cases. It is characterized by joint hypermobility, skin hyperextensibility, and chronic joint pain. Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation.

Classical EDS is characterized by skin that is thin, easily bruised, abnormal scarring, and hyperelastic skin. Patients with this subtype may also experience joint hypermobility and scoliosis.

Vascular EDS is the most severe subtype and affects the blood vessels and organs, including the heart and intestines. Patients with vascular EDS have a higher risk of organ rupture and life-threatening complications. People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes, and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Other subtypes of EDS include dermatosparaxis EDS, kyphoscoliotic EDS, arthrochalasia EDS, and others. Each subtype has its unique features and diagnostic criteria, which should be evaluated by a medical professional with expertise in connective tissue disorders.

At Connective Tissue Coalition, we provide resources and support for individuals and families affected by EDS and other connective tissue disorders. We aim to educate the public about these rare disorders and fund research that will lead to better treatments and ultimately a cure.

 

Contact us to learn more about our mission and how you can get involved.

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