A Breakdown of Ehlers-Danlos Syndrome Types

Understanding Ehlers Danlos Syndrome

If you or someone you know has been diagnosed with Ehlers Danlos Syndrome (EDS), it's important to have a clear understanding of this condition and its different types. EDS is a group of genetic disorders that affect the connective tissues in your body. These tissues provide support and structure to your skin, joints, blood vessels, and organs.

What is Ehlers Danlos Syndrome?

Ehlers Danlos Syndrome is characterized by a defect in the production of collagen, a key protein in connective tissues. This defect leads to weakened or faulty collagen production, causing various symptoms and complications. The severity and specific symptoms of EDS can vary depending on the type of EDS a person has.

Overview of Ehlers Danlos Syndrome Types

There are several types of Ehlers Danlos Syndrome, each with its own unique set of features and associated complications. The major types include:

It's important to note that these are just the major types of EDS, and there are other rarer types as well. Each type has its own set of diagnostic criteria and management strategies. If you suspect you may have EDS, it's crucial to consult with a healthcare professional for an accurate diagnosis and appropriate treatment options.

Understanding the different types of Ehlers Danlos Syndrome is the first step towards managing this condition effectively. It's essential to work closely with healthcare professionals who specialize in EDS to develop a comprehensive treatment plan that addresses your specific needs. To explore treatment and medication options for EDS, take a look at our articles on effective treatments for EDS and medications to avoid.

Classical Ehlers Danlos Syndrome (cEDS)

If you or someone you know has been diagnosed with Ehlers Danlos Syndrome (EDS), it's important to understand the different types of EDS to better manage the condition. One of the types of EDS is Classical Ehlers Danlos Syndrome (cEDS), which has its own unique characteristics, diagnosis, and management strategies.

Characteristics of cEDS

cEDS is characterized by joint hypermobility, stretchy or hyperextensible skin, and tissue fragility. Individuals with cEDS may experience frequent joint dislocations or subluxations due to the laxity of their connective tissues. The skin is often velvety or smooth to the touch and may be prone to easy bruising.

Other common features of cEDS include:

• Wound healing difficulties
• Atrophic scars (thin and depressed scars)
• Soft, doughy skin texture
• Joint pain and stiffness
• Muscle weakness and fatigue
• Gastrointestinal complications such as constipation or gastroesophageal reflux

It's important to note that the severity and combination of symptoms can vary among individuals with cEDS. If you suspect you may have cEDS or experience any of these symptoms, it is essential to consult with a healthcare professional for an accurate diagnosis and appropriate management strategies.

Diagnosis and Management of cEDS

Diagnosing cEDS typically involves a thorough evaluation of medical history, physical examination, and genetic testing. A geneticist or a healthcare provider specializing in connective tissue disorders can help confirm the diagnosis. It's important to rule out other types of EDS or similar conditions before arriving at a definitive diagnosis.

While there is no cure for cEDS, management strategies focus on symptom relief and reducing the risk of complications. Treatment plans may include:

• Physical therapy: To improve joint stability, muscle strength, and flexibility. Our article on Ehlers Danlos Syndrome physical therapy provides further insights.
• Pain management: To address joint and muscle pain, which is often associated with cEDS. Your healthcare provider may recommend medications or alternative therapies. However, it is important to be cautious when using certain medications due to potential interactions. Check out our article on medications to avoid with Ehlers Danlos Syndrome for more information.
• Skin care: Regular moisturization and protection from trauma can help manage skin fragility. It's advisable to consult with a dermatologist for specific skincare recommendations.
• Joint protection: Techniques such as bracing, taping, or using assistive devices can provide support and stability to the joints.

Remember, the diagnosis and management of cEDS should always be done under the guidance of qualified healthcare professionals. They can tailor the treatment plan to your specific needs and help you navigate the challenges associated with cEDS.

Hypermobility Ehlers Danlos Syndrome (hEDS)

One of the most common types is Hypermobility Ehlers Danlos Syndrome (hEDS). This section will provide an overview of the characteristics of hEDS, as well as information on its diagnosis and management.

Characteristics of hEDS

Hypermobility Ehlers Danlos Syndrome is characterized by joint hypermobility, which refers to an increased range of motion in the joints beyond what is considered normal. People with hEDS may have joints that can bend or move further than most individuals without experiencing pain or discomfort.

One of the key components of the disease model is the overactivity of the enzyme matrix metallo-proteinase (MMP), which causes an excess amount of collagen to be synthesized in the fascia, causing abnormal tissue thickness, scar tissue formations and chronic musculoskeletal pain.^1,2,3

Aside from joint hypermobility, hEDS is associated with several other symptoms, including:

• Chronic joint pain and instability
• Stretchy skin that may be soft and velvety to the touch
• Easy bruising and slow wound healing
• Fatigue and muscle weakness
• Gastrointestinal issues such as irritable bowel syndrome (IBS)
• Respiratory issues

It's important to note that hEDS can vary in severity and presentation from person to person. Some individuals may have mild symptoms, while others may experience more significant challenges in their daily lives.

Diagnosis and Management of hEDS

The diagnosis of hEDS remains clinical, based on a person's medical history and a physical examination, as there is currently no identified molecular or genetic causes to perform genetics testing. 

The clinical diagnosis of hEDS is established in 2017 by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. A medical professional may use these criteria as a guide to evaluate a person's medical history and perform a physical examination to assess the presence of specific signs and symptoms associated with hEDS (NHS).

It is important to note that the diagnosis of hEDS is primarily made in adults, as many of the clinical features develop over time and may not be present during childhood and adolescence.

Once diagnosed, the management of hEDS typically involves a multidisciplinary approach. This may include:

• Pain management: Medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), may be prescribed to alleviate joint pain and discomfort. It's important to consult with your healthcare provider before taking any medications, as certain drugs may be contraindicated for individuals with EDS. For more information, refer to our article on medications to avoid with Ehlers Danlos Syndrome.
• Physical therapy: A physical therapist with expertise in hEDS can create a customized exercise program to strengthen muscles, improve joint stability, and enhance overall mobility. Physical therapy may also include techniques to manage pain and prevent further joint damage. Check out our article on Ehlers Danlos Syndrome physical therapy for more information.
• Lifestyle modifications: Adapting your lifestyle to accommodate the challenges associated with hEDS is essential. This may involve avoiding activities that put excessive strain on your joints, using assistive devices to support mobility, and practicing good posture to minimize stress on the spine and joints.
• Emotional support: Living with a chronic condition like hEDS can take a toll on mental health. Seek emotional support from therapists, support groups, or online communities to help manage the emotional aspects of your condition.
• Seek RELIEF®: hEDS is often linked to chronic musculoskeletal pain that may be due to abnormal fascia thickness and adhesions. The RELIEF® procedure uses ultrasound-guided and hydrodissection to address these fascia-related issues, and may help with reducing pain and promoting tissue healing, without steroids, surgery, anesthesia, or post-procedure immobilization.⁴

Remember, managing hEDS is an ongoing process that requires regular communication with your healthcare provider. By understanding the characteristics of hEDS and implementing appropriate management strategies, you can optimize your quality of life and effectively navigate the challenges associated with this condition. For more information on treatments for EDS, refer to our article on Ehlers Danlos Syndrome treatments.

Contact us today to schedule a consultation and learn more about how RELIEF® may be able to help manage hEDS symptoms.

Vascular Ehlers Danlos Syndrome (vEDS)

Vascular Ehlers Danlos Syndrome (vEDS) is a rare subtype of Ehlers Danlos Syndrome (EDS) that primarily affects the blood vessels, leading to increased fragility and the potential for life-threatening complications. Understanding the characteristics, diagnosis, and management of vEDS is crucial for individuals and their healthcare providers.

Characteristics of vEDS

vEDS is characterized by thin, translucent skin that is prone to bruising and tearing. Individuals with vEDS may also have distinctive facial features, including a thin nose, lobeless ears, and prominent eyes. The blood vessels and organs are particularly affected, with arterial and organ ruptures being significant risks associated with vEDS. These complications can lead to severe internal bleeding and require immediate medical attention.

The genetic cause of vEDS is related to mutations in the COL3A1 gene, which is responsible for producing type III collagen. This collagen is a crucial component of blood vessels and organs, and its deficiency or abnormality contributes to the symptoms and complications seen in vEDS.

Diagnosis and Management of vEDS

Diagnosing vEDS often involves a combination of clinical evaluation, family history assessment, and genetic testing. Genetic testing can identify mutations in the COL3A1 gene, confirming the diagnosis. It is essential for individuals suspected of having vEDS to consult with a geneticist or a healthcare professional experienced in EDS to undergo a thorough evaluation.

Managing vEDS involves a multidisciplinary approach. Regular monitoring and screening of blood vessels and organs are essential to detect any potential complications early. Imaging techniques such as echocardiography, magnetic resonance imaging (MRI), and computed tomography (CT) scans may be used to assess the integrity of blood vessels and organs. Lifestyle modifications, such as avoiding activities and medications that increase the risk of injury or bleeding, may be recommended. For a comprehensive understanding of lifestyle modifications and available treatments for EDS, refer to our article on Ehlers-Danlos Syndrome treatments.

Due to the potential for life-threatening complications, individuals with vEDS should be aware of emergency protocols and seek immediate medical attention if they experience sudden severe pain, unexplained bleeding, or signs of an organ rupture. It is crucial to establish a strong support network and work closely with healthcare professionals specializing in vEDS to manage the condition effectively.

Remember, this information is not intended as a substitute for medical advice. If you suspect you have vEDS or any other form of EDS, consult with a healthcare professional experienced in EDS for an accurate diagnosis and personalized management plan.