What is Ehlers-Danlos Syndrome?

How Do I Know If I Have Ehlers-Danlos Syndrome?

Can you do things with your joints that most other people can’t? Did you have any “party tricks” as a kid? Do you have a history of joint dislocations? Do you suffer from unexplained chronic pain? If this sounds like you, you might want to learn more about Ehlers-Danlos Syndrome.

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What Is Ehlers-Danlos Syndrome (EDS)?

Ehlers-Danlos Syndrome, commonly abbreviated as EDS, is named for Dr. Edvard Lauritz Ehlers and Dr. Henri-Alexandre Danlos. They identified the syndrome in the early 20th century, but Historical references to EDS trace back to 400 BC. EDS is not a single condition but a collection of 13 distinct genetic disorders that impact the connective tissues in the body. These tissues, essential for binding various parts of the body together, can be affected in multiple ways due to EDS, leading to symptoms in the skin, joints, blood vessels, and organs. While most types of EDS have known genetic causes, the specific gene related to hypermobile EDS remains unidentified, though research continues in this area.

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Different Types of EDS

As of 2017, Ehlers-Danlos Syndrome (EDS) was categorized into 13 specific types, each distinguished by its symptoms and the presence or absence of related genes or proteins identified via genetic testing.

The 13 Types of EDS and their corresponding genes

• Hypermobile EDS (hEDS) – Gene unknown
• Classical EDS (cEDS) – COL5A1, COL5A2, COL1A1
• Vascular EDS (vEDS) – COL3A1, COL1A1
• Arthrochalasia EDS (aEDS) – COL1A1, COL1A2
• Brittle Cornea Syndrome (BCS) – ZNF469, PRDM5
• Cardiac-Valvular EDS (cvEDS) – COL1A2
• Classical-Like EDS (clEDS) – TNXB
• Dermatosparaxis EDS (dEDS) – ADAMTS2
• Kyphoscoliotic EDS (kEDS) – PLOD1, FKBP14
• Musculocontractural EDS (mcEDS) – CHST14, DSE
• Myopathic EDS (mEDS) – COL12A1
• Periodontal EDS (pEDS) – C1R, C1S
• Spondylodysplastic EDS (spEDS) – B4GAL7, B3GALT6, SLC39A13

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What are the Symptoms of EDS?

The various types of Ehlers-Danlos Syndrome (EDS) present with specific symptoms and diagnostic markers. Nonetheless, there are common symptoms observable in all EDS types, including joint flexibility, distinctive skin features, and delicate tissues.

Joint flexibility in EDS denotes that the joints can extend beyond what's typically deemed a normal range. This doesn't always result in pain, but it can elevate the likelihood of joint issues such as subluxations, dislocations, and sprains, leading to general joint instability. Although, some people with EDS are quite flexible, this isn’t always the case. It is important to note that joint flexibility does not necessarily present as most people might imagine (e.g. being flexible). It actually means that the joints themselves can move around more than normal such that the joints maybe be loose or they may be able to be pulled apart with little effort.

EDS can also affect the skin. Affected skin tends to be exceptionally soft, thin, and easily stretchable. To illustrate, if one can stretch the skin on their forearm beyond 1.5cm, it exceeds the usual range, and this trait is often observed in patients with EDS . Additionally, due to collagen's altered functionality in EDS individuals, wound healing might be prolonged, and scars might form atypically. These skin conditions combined with fragile tissues, which might affect the skin, blood vessels, and internal organs, heighten susceptibility to easy bruising, delayed healing, and potential internal injuries.

While there are many common symptoms of EDS, the symptoms are highly variable. One person’s experience rarely is the exact same as another’s. This is especially true for symptoms and comorbidities that present outside of the musculoskeletal system.

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Symptoms of Hypermobile Ehlers-Danlos Syndrome

Although hypermobile type EDS presents with symptoms that are similar to other types, there are some differences that are important to consider since it is by far the most common type of EDS. The symptoms of Hypermobile EDS include:

• Chronic pain
• Chronic Fatigue
• Dysautonomia including Postural Orthostatic Tachycardia Syndrome (PoTS)
• Gastrointestinal issues
• Mildly atrophic scaring in which the scar may appear to be lower than surrounding skin

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Is it worth getting a diagnosis for Ehlers-Danlos Syndrome?

It’s important to get a diagnosis for Ehlers-Danlos Syndrome because it can help patients to reduce symptom severity as well as avoid long term issues that may arise as a result of undiagnosed EDS. For example, many patients with EDS experience less pain relief and sedation from typical medications used for surgery, as a result, they need more anesthesia than an average person. Patients who are not adequately sedated may wake up during surgery. While waking up during surgery is an extreme example, there are also more common problems that people can prevent if addressed properly. A person with an EDS diagnosis may choose to be more cautious about certain high risk activities to prevent joint damage or they might choose to avoid foods or medications that could make their symptoms worse.

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Is there a cure for Ehlers-Danlos Syndrome?

There is no known cure for Ehlers-Danlos Syndrome, but management of the condition can significantly reduce the severity of the symptoms. The primary focus of treatment is on managing symptoms and taking preventive actions to enhance the well-being of those with the condition. The treatment approach is often determined by the specific type of EDS diagnosed.

Successfully managing EDS typically involves collaboration with a team of healthcare experts who can help guide you through treatment options that include medications, diet changes, physical therapy, and other life style changes. This team might include geneticists, physical therapists, occupational therapists, cardiologists, and pain management professionals, all working together to craft a personalized treatment plan for each patient.

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Conditions that often appear with EDS

Ehlers-Danlos syndrome (EDS) often coincides with a range of health conditions. While these associated conditions can differ among individuals, some of the commonly observed ones include:

• Mast Cell Activation Syndrome (MCAS): Mast cells, pivotal in connective tissue regulation, can be predominant in EDS-affected tissues. For EDS patients, these cells might show signs of irregular activation, leading to inflammation, pain, and other symptoms.
• Dysautonomia: This pertains to a malfunction in the autonomic nervous system, responsible for regulating involuntary body functions like heart rate. Manifestations might include orthostatic intolerance, postural orthostatic tachycardia syndrome (POTS), and gastrointestinal disturbances. It is frequently seen in conjunction with EDS, especially the hypermobile variant.
• Gastrointestinal (GI) Concerns: EDS may coincide with numerous GI conditions such as gastroesophageal reflux disease (GERD), irritable bowel syndrome (IBS), constipation, and gastroparesis, leading to abdominal discomfort, bloating, and inconsistent bowel movements.
• Temporomandibular Joint (TMJ) Issues: Those with EDS might experience TMJ problems, impacting the jaw joint and leading to pain, challenges in mouth movement, and distinctive sounds during jaw motions.
• Chiari Malformation: This condition involves the extension of brain tissue into the spinal canal and can result in headaches, neck discomfort, balance disruptions, and neurological symptoms.
• Tethered Cord Syndrome: This is where the spinal cord is abnormally anchored to nearby tissue, mainly at the base of the spine. It's observed more frequently in individuals with certain connective tissue disorders, EDS included.
• Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS): ME/CFS is a chronic illness marked by intense fatigue, cognitive challenges, and other symptoms.

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