Ehlers-Danlos Syndrome: Symptoms, Diagnosis & Management

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of 13 inherited disorders affecting the body's connective tissue, primarily collagen. This causes hypermobile joints that can easily dislocate, unusually stretchy and fragile skin, and a wide range of symptoms affecting multiple body systems. EDS affects approximately 1 in 5,000 people worldwide.

Connective tissue is a type of supportive tissue found throughout the body. It provides structure and support to the skin, joints, blood vessels, and internal organs. Collagen is the main protein in connective tissue, acting like a framework that holds the body together. When collagen is defective or not produced in sufficient quantities, the connective tissue cannot provide the support it needs to, leading to the characteristic features of EDS.

The name Ehlers-Danlos syndrome comes from two physicians who first described the condition in the early 1900s: Edvard Ehlers, a Danish dermatologist, and Henri-Alexandre Danlos, a French physician. Since then, our understanding of the condition has grown significantly, and we now recognize 13 distinct types of EDS, each caused by different genetic mutations.

While all types of EDS affect connective tissue, the specific symptoms and severity vary considerably between types. Some people have mild symptoms that cause minimal disruption to daily life, while others experience significant disability. Understanding the specific type of EDS is important for appropriate management and monitoring for potential complications.

How Connective Tissue Is Affected

In EDS, genetic mutations affect either the production of collagen or the enzymes that process collagen. Collagen is made of protein chains that wind together like a rope to provide strength and flexibility. When these chains are defective or improperly assembled, the resulting collagen is weaker and less able to provide structural support.

Different genes control different types of collagen and collagen-processing enzymes. This is why mutations in different genes cause different types of EDS with varying symptoms. For example, vascular EDS is caused by mutations affecting type III collagen, which is particularly important for blood vessel walls, explaining why people with this type have fragile blood vessels.

Who Gets Ehlers-Danlos Syndrome?

EDS affects people of all ethnicities and both sexes. Most types follow an autosomal dominant inheritance pattern, meaning that a person only needs one copy of the mutated gene (from one parent) to develop the condition. If one parent has EDS, each child has a 50% chance of inheriting the condition. Some rarer types follow autosomal recessive inheritance, requiring mutations from both parents.

However, EDS can also occur in people with no family history of the condition. This happens when a new (spontaneous) genetic mutation occurs. These new mutations can then be passed on to future generations following the typical inheritance pattern.

What Are the 13 Types of Ehlers-Danlos Syndrome?

The 2017 International Classification identifies 13 types of EDS: Classical (cEDS), Classical-like (clEDS), Cardiac-valvular (cvEDS), Vascular (vEDS), Hypermobile (hEDS), Arthrochalasia (aEDS), Dermatosparaxis (dEDS), Kyphoscoliotic (kEDS), Brittle Cornea Syndrome (BCS), Spondylodysplastic (spEDS), Musculocontractural (mcEDS), Myopathic (mEDS), and Periodontal (pEDS).

Understanding the different types of EDS is important because each type has distinct clinical features, genetic causes, and potential complications. The 2017 International Classification of EDS replaced previous classifications and provides clearer diagnostic criteria for each type. Here is an overview of each type:

Hypermobile EDS (hEDS) - The Most Common Type

Hypermobile EDS is by far the most common type, accounting for the vast majority of EDS cases. It is characterized by generalized joint hypermobility affecting multiple joints throughout the body, along with chronic musculoskeletal pain and fatigue. Unlike other types, the genetic cause of hEDS has not yet been identified, so diagnosis relies entirely on clinical criteria rather than genetic testing.

People with hEDS often experience recurrent joint dislocations or subluxations (partial dislocations), especially in the shoulders, knees, and fingers. Chronic pain is a major feature and can significantly impact quality of life. Many people with hEDS also experience symptoms related to other body systems, including digestive problems, cardiovascular symptoms (such as POTS - postural orthostatic tachycardia syndrome), and anxiety.

Classical EDS (cEDS)

Classical EDS is characterized by extremely stretchy skin that can be pulled far from the body and springs back when released. The skin is also very fragile and heals poorly, leaving distinctive wide, atrophic (papery) scars. Joint hypermobility is present but may be less severe than in hEDS. People with cEDS often develop molluscoid pseudotumors (fleshy growths) over pressure points.

Vascular EDS (vEDS) - The Most Serious Type

Vascular EDS is the most serious type because it affects the walls of blood vessels and internal organs, making them prone to rupture. This can be life-threatening. The skin in vEDS is thin and translucent, allowing veins to be easily visible. Unlike other types, significant joint hypermobility is usually limited to small joints (fingers, toes). The median life expectancy is reduced to around 51 years due to vascular and organ complications.

What Symptoms Does Ehlers-Danlos Syndrome Cause?

The main symptoms of EDS include joint hypermobility (excessive flexibility), stretchy and fragile skin, chronic pain, easy bruising, fatigue, and slow wound healing. Symptoms can also include digestive problems, cardiovascular issues, and complications affecting multiple body systems. The specific symptoms depend on the type of EDS.

EDS affects connective tissue throughout the body, which means symptoms can occur in many different body systems. The severity and combination of symptoms varies greatly between individuals, even among those with the same type of EDS. Understanding the full range of possible symptoms helps people recognize the condition and seek appropriate care.

Joint Hypermobility and Instability

Joint hypermobility is the hallmark feature of most types of EDS. This means joints can bend further than normal, sometimes to an extreme degree. While this might seem like a positive trait (and many people with EDS are naturally flexible enough for gymnastics or dance), the lack of stability in the joints causes significant problems.

Hypermobile joints are prone to dislocations and subluxations (partial dislocations). These can occur during normal activities and may happen repeatedly in the same joints. Over time, the repeated injuries can lead to early-onset osteoarthritis and chronic pain. Common problems include:

• Shoulders that dislocate during reaching or lifting movements
• Knees that give way or feel unstable when walking
• Fingers that hyperextend backward beyond normal limits
• Ankles that roll or sprain easily
• Jaw problems including clicking, locking, or TMJ disorders

Skin Changes

Skin involvement varies between EDS types but commonly includes increased stretchiness, fragility, and abnormal scarring. In classical EDS, the skin can be pulled well beyond normal limits but snaps back when released. The skin often feels soft and velvety to touch.

People with EDS typically bruise very easily, even from minor bumps or without any obvious injury. Wounds may take longer to heal, and when they do heal, the scars are often wide, thin, and papery (atrophic scars). These distinctive scars are particularly noticeable on the shins, knees, elbows, and forehead.

Chronic Pain

Chronic pain is one of the most significant and debilitating symptoms of EDS, particularly in hypermobile EDS. The pain can affect joints, muscles, and other areas of the body. It often begins in childhood or adolescence and may worsen with age.

The causes of pain in EDS are complex and include joint instability leading to muscle strain, recurrent injuries, nerve irritation, and chronic inflammation. Many people develop widespread body pain that meets criteria for fibromyalgia. Pain can significantly impact sleep, mood, and ability to work or participate in daily activities.

Fatigue

Severe fatigue is extremely common in EDS and can be one of the most limiting symptoms. The causes include the extra effort required to stabilize hypermobile joints, poor sleep due to pain or positional discomfort, and associated conditions like POTS (postural orthostatic tachycardia syndrome). Some people with EDS meet criteria for chronic fatigue syndrome.

Other Body Systems Affected

EDS can affect virtually any body system containing connective tissue. Common additional symptoms include:

• Digestive problems: Slow stomach emptying, constipation, symptoms similar to irritable bowel syndrome (IBS), acid reflux
• Cardiovascular issues: POTS (racing heart and dizziness on standing), mitral valve prolapse, easy fainting
• Headaches: Frequent headaches including migraines, often related to neck instability
• Dental problems: Fragile gums, crowded teeth, TMJ disorders
• Pelvic floor dysfunction: Incontinence, prolapse (especially in women)
• Eye problems: Myopia (nearsightedness), dry eyes, blue sclera (whites of eyes)

Symptoms in Women

Female hormones affect connective tissue, often making symptoms worse during certain times of the menstrual cycle, pregnancy, and menopause. Women with EDS may experience:

• Heavy or painful menstrual periods
• Increased joint instability during pregnancy
• Higher risk of pelvic organ prolapse
• Worsening symptoms around ovulation and menstruation
• Increased lower back and pelvic pain during pregnancy

Symptoms in Children

Children are naturally more flexible than adults, so hypermobility may not initially seem unusual. Signs that a child may have EDS include:

• Frequent leg pain, often attributed to "growing pains"
• Becoming tired more quickly than peers
• Difficulty concentrating at school (often due to pain or fatigue)
• Frequent unexplained bruising
• Chronic constipation
• Difficulty learning to write due to finger hypermobility
• Delayed motor milestones or clumsy movements

After puberty, symptoms may either improve or worsen. Boys often become less hypermobile as they develop more muscle mass. Girls frequently remain hypermobile and may develop additional symptoms as hormones affect the connective tissue.

When Should You See a Doctor for EDS Symptoms?

See a doctor if you have unusually flexible joints combined with chronic pain, frequent dislocations, stretchy or fragile skin, easy bruising, or slow wound healing. Seek immediate emergency care for sudden severe chest or abdominal pain, signs of internal bleeding, or if you suspect arterial problems - especially if you have vascular EDS.

Many people with EDS experience symptoms for years before receiving a diagnosis. If you suspect you or your child might have EDS based on the symptoms described above, it is important to seek medical evaluation. Early diagnosis allows for appropriate management strategies that can prevent complications and improve quality of life.

Contact your doctor if you experience:

• Joints that bend significantly further than other people's
• Recurrent joint dislocations or subluxations
• Chronic widespread pain without another explanation
• Unusually stretchy, soft, or fragile skin
• Easy bruising or poor wound healing
• A family history of EDS or similar symptoms

Your doctor may refer you to a geneticist, rheumatologist, or a specialist with experience in connective tissue disorders for further evaluation.

How Is Ehlers-Danlos Syndrome Diagnosed?

EDS is diagnosed through clinical evaluation using the 2017 International Diagnostic Criteria, which includes the Beighton score for joint hypermobility, skin examination, family history assessment, and evaluation of systemic features. Genetic testing can confirm most types except hypermobile EDS (hEDS), for which no gene has been identified.

Diagnosing EDS typically involves a thorough clinical assessment by a physician with expertise in connective tissue disorders. The process includes gathering a detailed medical and family history, performing a physical examination, and in many cases, genetic testing to identify the specific type.

Clinical Assessment

The doctor will ask detailed questions about your symptoms, when they started, and your family history. Physical examination includes assessing joint hypermobility using the Beighton score, examining skin stretchiness and texture, looking for distinctive scars, and checking for signs of other system involvement.

The Beighton Score

The Beighton score is a standardized assessment of joint hypermobility. It evaluates nine specific points:

• Can you bend your little finger back beyond 90 degrees? (1 point each hand)
• Can you bend your thumb to touch your forearm? (1 point each hand)
• Can you hyperextend your elbow beyond straight? (1 point each arm)
• Can you hyperextend your knee beyond straight? (1 point each leg)
• Can you place your palms flat on the floor with knees straight? (1 point)

A score of 5 or more out of 9 in adults (or 6+ in children) indicates generalized joint hypermobility. However, a high Beighton score alone does not diagnose EDS - it must be combined with other clinical features.

Genetic Testing

Genetic testing can confirm diagnosis of most types of EDS by identifying mutations in specific genes. This is particularly important for vascular EDS because of the serious potential complications. Genetic testing involves a blood sample that is analyzed to look for mutations in the genes known to cause EDS.

Importantly, no gene has yet been identified for hypermobile EDS (hEDS), so diagnosis of this type relies entirely on clinical criteria. A negative genetic test does not rule out hEDS.

Skin Biopsy

In some cases, a small skin sample may be examined under electron microscopy to look for collagen abnormalities. This can help support a diagnosis, particularly when genetic testing is inconclusive.

How Is Ehlers-Danlos Syndrome Treated?

There is no cure for EDS, but symptoms can be effectively managed through physical therapy to strengthen muscles and stabilize joints, pain management strategies, occupational therapy, and lifestyle modifications. Treatment focuses on preventing complications, managing pain, and maintaining quality of life.

Because EDS is caused by genetic changes that affect collagen throughout the body, there is currently no way to cure the underlying condition. However, with appropriate management, most people with EDS can lead fulfilling lives. Treatment is tailored to each individual's specific symptoms and type of EDS.

Physical Therapy

Physical therapy is often the cornerstone of EDS management. Working with a physiotherapist who understands hypermobility conditions is essential. The goals of physical therapy include:

• Strengthening muscles to provide better support for unstable joints
• Improving posture and body mechanics
• Developing proprioception (awareness of body position)
• Learning safe exercise techniques that avoid overextending joints
• Improving balance and coordination

It is important that exercise programs are tailored specifically to EDS. Generic exercise advice may be harmful if it encourages hyperextension or high-impact activities that stress vulnerable joints.

Pain Management

Chronic pain in EDS often requires a multifaceted approach. Options include:

• Medications: Over-the-counter pain relievers, prescription medications when needed. Opioids are generally used cautiously due to risk of dependence
• Heat and cold therapy: Applying heat packs or ice packs to painful areas
• TENS (transcutaneous electrical nerve stimulation): A device that delivers mild electrical pulses to help control pain
• Cognitive behavioral therapy (CBT): Psychological techniques that help manage chronic pain
• Mindfulness and relaxation techniques: Deep breathing, meditation, progressive muscle relaxation

Psychological Support

Living with a chronic condition like EDS can be challenging emotionally. Many people benefit from psychological support, including:

• Cognitive behavioral therapy (CBT): Helps develop coping strategies for pain and the challenges of chronic illness
• Acceptance and commitment therapy (ACT): Focuses on accepting difficult experiences and committing to actions that improve quality of life
• Support groups: Connecting with others who understand the condition can be valuable

Medications for Specific Symptoms

Depending on individual symptoms, medications may include:

• Pain medications (NSAIDs, paracetamol, or stronger options when needed)
• Medications for migraine prevention and treatment
• Medications for digestive symptoms (acid reflux, constipation)
• Medications for POTS and cardiovascular symptoms

Assistive Devices and Aids

Various devices can help protect joints and make daily activities easier:

• Joint braces and supports (wrists, knees, ankles)
• Ring splints for finger hypermobility
• Compression garments
• Ergonomic aids for work and home
• Mobility aids when needed (cane, wheelchair for longer distances)

What Can You Do to Manage EDS Symptoms?

Self-management includes protecting joints during activities, exercising appropriately with low-impact activities, pacing activities to avoid overexertion, using heat or cold for pain, practicing good posture, wearing supportive footwear, and maintaining regular sleep and nutrition habits.

Understanding your condition and learning effective self-management strategies is crucial for living well with EDS. Here are key approaches:

Protect Your Joints

Being mindful of how you use your joints can prevent injuries and reduce pain:

• Avoid hyperextending joints - keep them in a neutral, supported position
• Use proper body mechanics when lifting (bend knees, not back)
• Change positions frequently rather than staying in one position too long
• Use assistive devices and braces as recommended

Exercise Appropriately

Regular exercise is important but must be done safely:

• Low-impact activities are best: Swimming, cycling, walking, Pilates, gentle yoga (avoiding hyperextension)
• Focus on strengthening: Build muscle support around unstable joints
• Avoid: High-impact sports, contact sports, activities that encourage hyperextension
• Work with professionals: A physiotherapist familiar with EDS can design a safe program

Pace Yourself

Energy management is essential when fatigue is a significant symptom:

• Take regular rest breaks throughout the day
• Alternate between demanding and less demanding tasks
• Plan activities to avoid overexertion
• Learn to recognize your limits and respect them

Pain Relief Strategies

Non-medication approaches that many people find helpful include:

• Heat packs or warm baths for muscle stiffness
• Cold packs for acute pain or inflammation
• Relaxation techniques and deep breathing
• TENS units for localized pain
• Gentle stretching (without hyperextending)

Daily Living Tips

Practical strategies for reducing symptoms:

• Wear supportive, cushioned footwear - avoid high heels
• Use ergonomic equipment at work
• Request workplace accommodations if needed
• Avoid chewing gum or opening mouth wide if you have jaw problems
• Maintain good sleep hygiene and nutrition
• Stay hydrated and consider increasing salt intake if you have POTS (discuss with doctor)

What Causes Ehlers-Danlos Syndrome?

EDS is caused by genetic mutations that affect collagen production or structure. Different genes cause different types of EDS. Most types follow autosomal dominant inheritance (50% chance of passing to children), while some rarer types are autosomal recessive. Spontaneous new mutations can also occur.

EDS is a genetic condition, meaning it is caused by changes (mutations) in specific genes. These genes contain instructions for making collagen or the enzymes that process collagen. When these genes are mutated, the resulting collagen is defective or insufficient, leading to the connective tissue problems seen in EDS.

The condition is present from birth, although symptoms may not become apparent until later in life as the demands on the body increase. Some people are diagnosed in childhood, while others may not receive a diagnosis until adulthood when symptoms become more pronounced or problematic.

Inheritance Patterns

Most types of EDS follow autosomal dominant inheritance. This means:

• Only one copy of the mutated gene is needed to cause the condition
• A person with EDS has a 50% chance of passing it to each child
• Both males and females can be affected equally

Some rarer types (kyphoscoliotic EDS, dermatosparaxis EDS, some others) follow autosomal recessive inheritance, requiring mutations from both parents for a child to be affected.

Importantly, EDS can also occur in people with no family history when a spontaneous (new) mutation occurs. This person can then pass the condition to their children.

What Is It Like Living with Ehlers-Danlos Syndrome?

Living with EDS involves managing chronic symptoms while maintaining the best possible quality of life. With appropriate support including physical therapy, pain management, workplace accommodations, and connection with others who understand the condition, many people with EDS lead fulfilling lives.

Receiving an EDS diagnosis can bring mixed emotions. For many, it provides relief and validation after years of unexplained symptoms. At the same time, learning that it is a lifelong condition without a cure can be challenging to process. Support from healthcare providers, family, and peer support networks is important during this time.

Getting Support

Building a support network is valuable for managing EDS:

• Healthcare team: Work with doctors who understand EDS, including rheumatologists, geneticists, physiotherapists, and pain specialists
• Mental health support: Counselors or psychologists can help with the emotional challenges of chronic illness
• Patient organizations: Groups like the Ehlers-Danlos Society provide resources, education, and opportunities to connect with others
• Family and friends: Educating those close to you about EDS helps them understand and support you

Work and School

Many people with EDS work and attend school successfully, though accommodations may be needed:

• Ergonomic workstations and seating
• Flexible scheduling or the ability to take breaks
• Reduced physical demands where possible
• Extra time for written tasks (due to hand fatigue)

Connecting with Others

Connecting with other people who have EDS can be incredibly helpful. Sharing experiences, tips, and support with others who truly understand the condition can reduce feelings of isolation and provide practical advice for managing daily challenges.