What is Ehlers-Danlos Syndrome? Causes, Symptoms, and Diagnosis

Have you or someone you care about been told you might have Ehlers-Danlos syndrome (EDS)? It’s natural to feel uncertain when facing a condition you may not know much about. EDS is a group of inherited conditions that affect your body’s connective tissues, often involving the skin, joints, and blood vessels. 

While the symptoms can vary, understanding what causes EDS, how it shows up, and how it’s diagnosed can help you feel more in control. 

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect your body's connective tissues. These tissues support the skin, joints, blood vessels, and organs. When you have EDS, your connective tissues may be more fragile or elastic than they should be. This can lead to symptoms like hypermobile joints, stretchy skin, and other health concerns. 

While there's no cure, recognising the condition and managing it can make a big difference. Understanding the condition is an important first step toward taking control of your health.

Types of Ehlers-Danlos Syndrome

There are several Ehlers-Danlos Syndrome types, each affecting your body in slightly different ways. Most are rare, but some are more commonly diagnosed.

Hypermobile EDS

This is the most common type. You may have very flexible joints that can dislocate easily, along with joint pain, fatigue, and sometimes digestive or bladder issues. Skin may feel soft but is usually not as fragile as in other types.

Classical EDS

This type often affects your skin more noticeably. You might have stretchy, smooth skin that bruises easily, along with wider scars that form slowly. Joints can also be loose and prone to dislocation.

Vascular EDS

Vascular EDS is a more serious type. It may affect the blood vessels, skin, and internal organs. Your skin may bruise easily, appear translucent, and be at higher risk of tearing. There is a small risk of organ rupture.

Kyphoscoliotic EDS

This rare type can cause a curved spine from early childhood, along with very loose joints and weak muscles. You might also have stretchy skin and issues with fragile eyes.

Hypermobility Spectrum Disorder (HSD)

HSD shares many symptoms with hypermobile EDS but doesn’t meet the full criteria. You may have joint hypermobility and pain without other EDS signs. It’s managed similarly to hypermobile EDS.

How Common is Ehlers-Danlos Syndrome?

EDS is considered rare, but hypermobile EDS is more common than the other types. Estimates suggest around 1 in 5,000 people may have some form of EDS, though hypermobility-related symptoms can affect many more. Because symptoms vary so much and can overlap with other conditions, diagnosis can take time. 

Many people live with the condition for years before they are properly diagnosed. If you suspect you or a loved one may have EDS, it's important to speak with your healthcare provider about your concerns.

Ehlers-Danlos Syndrome Symptoms

Ehlers-Danlos Syndrome symptoms vary depending on the type, but some are shared across most types.

• Joint hypermobility: You may be able to move your joints beyond the normal range, sometimes leading to dislocations or pain.
• Stretchy skin: Your skin may stretch more than usual but snap back into place when released. It can also feel soft and velvety.
• Fragile skin: Wounds may take longer to heal, and scars can appear thin and wide. Bruising happens easily.
• Fatigue: Many people with EDS feel tired even after rest, which can affect daily life and mood.
• Digestive and bladder issues: Some types can cause constipation, heartburn, or problems with bladder control.
• Dizziness or fast heart rate when standing: Especially common in hypermobile EDS.

Causes of Ehlers-Danlos Syndrome

EDS is caused by genetic mutations that affect your body's ability to make or use collagen properly. Collagen is a key part of your connective tissues.

• Inherited genes: In many cases, the faulty gene is passed down from a parent, though the severity can vary from one person to another.
• New mutations: Sometimes, the condition can occur for the first time in someone without a family history of EDS.
• Collagen defects: Most types of EDS involve problems with collagen production, structure, or function.
• Connective tissue impact: Because collagen supports so many tissues, the effects can show up in skin, joints, blood vessels, and even organs.
• Gene-specific issues: Each type of EDS is linked to specific genes, and different mutations cause different forms of the syndrome.

Ehlers-Danlos Syndrome Risk Factors

While EDS is not something you can catch or prevent through lifestyle, certain factors may increase your chances of having it.

• Family history: If a parent or close relative has EDS, your chances of having it are higher, especially for types with dominant inheritance patterns.
• Known genetic mutation: Having a gene change known to cause EDS is a direct risk, whether inherited or a new mutation.
• Connective tissue symptoms: If you've had frequent joint dislocations or easy bruising, these could point toward EDS.
• Other hypermobility issues: If you've already been diagnosed with joint hypermobility or HSD, there's a higher likelihood of also having EDS.
• Early childhood signs: Delays in walking, muscle weakness, or frequent injuries in childhood may hint at EDS.

Complications Of Ehlers-Danlos Syndrome

While many people manage EDS well, there are possible complications to be aware of.

• Joint dislocations and instability: Loose joints are more prone to frequent dislocations, which can be painful and limit movement.
• Skin injuries: Fragile skin can tear easily, and wounds may leave wide, noticeable scars.
• Organ issues: In some rare types like vascular EDS, there's a risk of rupture in organs or blood vessels.
• Dental and eye problems: Gums and teeth may be more prone to damage, and the cornea of the eye can be thinner than normal.
• Spinal problems: Curvature of the spine (scoliosis) or spinal instability can develop in some cases.
• Emotional impact: Chronic pain or fatigue can take a toll on your emotional wellbeing, which is important to address.

How is Ehlers-Danlos Syndrome Diagnosed?

Diagnosis often begins with a physical exam and medical history review. Your symptoms and family background provide important clues.

• Skin and joint checks: Your doctor will look for stretchy skin, scarring, and test how flexible your joints are.
• Symptom history: You'll be asked about fatigue, pain, injuries, and how long you've had these issues.
• Family background: Information about relatives with similar symptoms can help guide the diagnosis.
• Genetic testing: For some types, a blood test may confirm the exact gene mutation.
• Referral to a specialist: A geneticist or rheumatologist may be involved for further assessment.

How is Ehlers-Danlos Syndrome Treated?

There is no cure, but Ehlers-Danlos Syndrome treatment focuses on managing symptoms and reducing risks. A personalised care plan can help you stay active and safe.

• Physical therapy: Exercises strengthen the muscles around your joints, improving stability and lowering the risk of dislocations.
• Joint protection: Braces or supports may help prevent injury during daily activities or movement.
• Pain management: Medications, heat therapy, or gentle exercise like swimming or pilates can ease pain.
• Lifestyle adjustments: Avoiding heavy lifting and high-impact activities can reduce strain on your joints and skin.
• Skin care: Gentle skincare and sunscreen help protect fragile skin.
• Monitoring: Regular checks, especially for vascular types, can detect changes in blood vessels or organs early.
• Mental health support: Therapy or support groups can help you cope with chronic symptoms and emotional stress.
• Multidisciplinary care: You may work with physiotherapists, occupational therapists, and genetic counsellors for comprehensive care.

Prevention

EDS cannot be prevented since it’s caused by genetic changes, but there are steps you can take to reduce complications and plan for the future.

• Genetic counselling: If you’re planning to have children and have EDS or a family history of it, counselling can help you understand the risks.
• Early diagnosis: Recognising signs early means you can begin managing symptoms sooner, reducing the risk of injury.
• Activity modification: Learning how to move safely and avoid overloading joints helps prevent pain and damage.
• Health education: Understanding your type of EDS can help you make informed choices in daily life and healthcare decisions.
• Family awareness: If you or a family member is diagnosed, others may want to be assessed as well.

What Can I Expect If I Have Ehlers-Danlos Syndrome?

Living with EDS is different for everyone, but many people lead full lives with the right support. Learning how to manage symptoms is key.

• Long-term management: You may need to adjust your daily routine or exercise, but you can stay active.
• Individual experience: Your symptoms and challenges will depend on the specific type and severity of EDS.
• Monitoring changes: Regular medical reviews help you keep track of how your condition is evolving.
• Support is available: From physiotherapists to genetic counsellors, you're not without help navigating the condition.
• Stay positive: With awareness and good care, many people find their own ways to thrive with EDS.

Life Expectancy Of Someone With Ehlers-Danlos Syndrome

Most people with EDS have a normal life expectancy, especially with early diagnosis and good management. However, types that affect blood vessels, like vascular EDS, may carry more risk if not closely monitored. 

Even in those cases, careful planning and regular check-ups can reduce complications. It’s important to stay informed, listen to your body, and follow up regularly with your healthcare team. With time, you'll learn how to adapt and protect your wellbeing while still living a fulfilling life.

Conclusion

Living with Ehlers-Danlos Syndrome may feel overwhelming at first, but gaining the right knowledge can ease your concerns. By understanding its causes, symptoms, and how it’s diagnosed, you’re better prepared to manage it confidently. 

When it comes to accurate testing and expert support, Metropolis Healthcare stands out with its wide diagnostic range, experienced professionals, and convenient home sample collection—helping you stay informed and in control of your health.

FAQs

Is Ehlers-Danlos Syndrome hereditary?

Yes, Ehlers-Danlos Syndrome is often hereditary and caused by genetic mutations, which can be passed from one or both parents to their children.

Is there a cure for Ehlers-Danlos Syndrome?

There is no cure for EDS, but symptoms can be managed effectively through lifestyle changes, therapy, and regular monitoring by healthcare professionals.

Can you live a normal life with EDS?

Yes, many people with EDS lead fulfilling lives by adapting daily routines, avoiding joint strain, and following medical advice to manage symptoms safely.

What specialists treat EDS?

EDS is usually treated by a team including rheumatologists, geneticists, physiotherapists, and sometimes cardiologists or neurologists, depending on the symptoms and type.

At what age does EDS usually appear?

Symptoms of EDS often begin in childhood or adolescence, although the severity and timing can vary based on the specific type of the condition.

Can EDS affect internal organs?

Yes, in some types like vascular EDS, internal organs such as blood vessels or intestines can be affected, which may lead to serious complications.

Does pregnancy affect people with EDS?

Pregnancy can increase certain risks in people with EDS, especially in vascular types, so close monitoring and care by specialists is often necessary.

Is EDS a progressive condition?

Yes, EDS symptoms can change or worsen over time, especially joint-related issues or fatigue, which may require adjustments in care and lifestyle.