11 Key Ehlers-Danlos Syndrome Symptoms You Should Know

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect the body’s collagen production. Collagen is a crucial protein that provides structure and strength to skin, joints, blood vessels, and other organs. When collagen is defective or insufficient, it can lead to a wide range of symptoms that vary in severity from person to person.

There are 13 different types of EDS, with hypermobile EDS (hEDS) being the most common. While each type has unique characteristics, they all share certain core symptoms related to joint, skin, and tissue fragility. Understanding these symptoms is essential for early diagnosis and proper management of the condition.

In this comprehensive guide, we’ll explore the primary symptoms of Ehlers-Danlos syndrome, helping you recognize the signs and understand when to seek medical attention.

1. Joint Hypermobility

Joint hypermobility is one of the hallmark symptoms of Ehlers-Danlos syndrome, particularly in the hypermobile type. This condition means that joints can move beyond the normal range of motion, often to an extreme degree.

People with EDS may be able to:

• Bend their thumbs backward to touch their forearms
• Hyperextend their elbows and knees backward
• Perform unusual contortions with their fingers and limbs
• Touch their palms flat to the floor while keeping their knees straight

While this flexibility might seem advantageous, it actually creates significant problems. The excessive joint movement puts stress on surrounding muscles, tendons, and ligaments, leading to instability and increased risk of injury. Children with EDS are often described as “double-jointed” or exceptionally flexible, but this symptom typically becomes more problematic with age as the cumulative joint damage increases.

2. Chronic Joint Pain

Chronic joint pain is a debilitating symptom experienced by the majority of people with Ehlers-Danlos syndrome. This pain results from the constant strain on joints that lack proper structural support due to defective collagen.

The pain characteristics include:

• Persistent aching in multiple joints, especially knees, hips, shoulders, and ankles
• Pain that worsens with physical activity or after periods of rest
• Morning stiffness that can last for hours
• Pain that may migrate from one joint to another

Unlike normal exercise-related soreness, EDS joint pain can be severe and constant, significantly impacting daily activities and quality of life. The pain often begins in childhood or adolescence and tends to worsen over time. Many individuals describe the sensation as their joints feeling “loose” or “unstable,” as if they might give way at any moment.

3. Frequent Joint Dislocations and Subluxations

People with EDS experience joint dislocations (complete separation of joint surfaces) and subluxations (partial dislocations) much more frequently than the general population. These events can occur with minimal trauma or even during routine activities.

Common dislocation sites include:

• Shoulders – often dislocating during sleep or while reaching
• Kneecaps – slipping out of place when walking or standing
• Fingers and toes – dislocating with simple gripping or stepping motions
• Jaw (temporomandibular joint) – causing difficulty eating or speaking
• Hips – particularly problematic in more severe cases

For some individuals with EDS, joints may dislocate multiple times per day. While they often learn to relocate their joints themselves, repeated dislocations cause progressive joint damage, inflammation, and chronic pain. The psychological impact of living with unpredictable joint instability can also be significant, leading to anxiety and activity avoidance.

4. Skin Hyperextensibility

Abnormally stretchy skin is a distinctive feature of Ehlers-Danlos syndrome, though the degree varies depending on the EDS type. The skin can be pulled away from the body much further than normal, particularly on the neck, elbows, and knees.

Skin characteristics in EDS include:

• Soft, velvety texture that feels different from typical skin
• Ability to stretch several centimeters beyond normal range
• Skin that immediately returns to its original position when released (unlike loose skin from aging or weight loss)
• Translucent appearance, especially in vascular EDS, where veins are highly visible

While this symptom is often less problematic than joint issues, it serves as an important diagnostic indicator. The skin’s elasticity reflects the underlying collagen defect affecting connective tissue throughout the body. It’s important to note that not all types of EDS feature significant skin hyperextensibility, so its absence doesn’t rule out the condition.

5. Fragile Skin and Poor Wound Healing

Skin fragility is a serious concern for individuals with Ehlers-Danlos syndrome. The defective collagen makes skin more susceptible to injury and compromises the healing process.

Manifestations of skin fragility include:

• Easy bruising from minor bumps or pressure
• Skin that tears or splits easily, even from gentle contact
• Wounds that take significantly longer to heal than normal
• Wide, atrophic scars that have a “cigarette paper” appearance
• Difficulty holding stitches, with sutures often tearing through the skin

Minor injuries that would cause little damage in others can result in significant wounds for people with EDS. The skin may split open from bumping into furniture or during normal physical activity. Healing is often complicated by the poor quality of collagen being produced to repair the wound, leading to fragile scar tissue that may reopen easily. Special wound care techniques and sometimes additional medical interventions are necessary to promote proper healing.

6. Chronic Fatigue

Overwhelming fatigue is one of the most commonly reported yet often overlooked symptoms of Ehlers-Danlos syndrome. This isn’t ordinary tiredness that improves with rest, but rather a persistent, debilitating exhaustion that interferes with daily functioning.

EDS-related fatigue presents as:

• Extreme tiredness that’s disproportionate to activity level
• Need for frequent rest periods throughout the day
• Unrefreshing sleep, waking up as tired as when going to bed
• Physical and mental exhaustion that limits work, school, and social activities
• Post-exertional malaise, where symptoms worsen after physical or mental effort

The fatigue in EDS likely stems from multiple factors: the body working overtime to stabilize unstable joints, chronic pain disrupting sleep quality, autonomic nervous system dysfunction, and the energy expenditure required for basic movements. This symptom can be as disabling as the physical manifestations of EDS and significantly impacts quality of life.

7. Gastrointestinal Problems

Digestive issues are extremely common in Ehlers-Danlos syndrome because collagen is present throughout the gastrointestinal tract. When this connective tissue is defective, it can lead to various functional problems.

Common gastrointestinal symptoms include:

• Irritable bowel syndrome (IBS) with alternating constipation and diarrhea
• Gastroparesis (delayed stomach emptying) causing nausea, bloating, and early satiety
• Gastroesophageal reflux disease (GERD) and heartburn
• Abdominal pain and cramping
• Difficulty swallowing (dysphagia)
• Functional dyspepsia

These digestive problems can be severe enough to cause malnutrition, weight loss, and dehydration. The gastrointestinal tract’s motility may be affected due to weak connective tissue in the intestinal walls, leading to inefficient movement of food through the system. Some individuals with EDS require special diets, feeding tubes, or other interventions to maintain adequate nutrition.

8. Cardiovascular Manifestations

The cardiovascular system contains significant amounts of collagen, particularly in blood vessel walls and heart valves. EDS can therefore affect heart and vascular function in various ways, with severity depending on the specific type.

Cardiovascular symptoms may include:

• Mitral valve prolapse (the heart valve doesn’t close properly)
• Aortic root dilation (enlargement of the major artery from the heart)
• Easy bruising from fragile blood vessels
• Postural orthostatic tachycardia syndrome (POTS) – rapid heart rate upon standing
• Blood pressure abnormalities
• In vascular EDS: risk of arterial rupture or dissection, which is life-threatening

While most types of EDS have relatively mild cardiovascular involvement, vascular EDS is particularly dangerous due to the risk of spontaneous rupture of major arteries or organs. All individuals with EDS should have regular cardiovascular monitoring, and those with vascular EDS require specialized management and careful activity modification to minimize rupture risk.

9. Dental and Oral Problems

The teeth, gums, and temporomandibular joint (TMJ) are all affected by the connective tissue abnormalities in Ehlers-Danlos syndrome, leading to various dental and oral complications.

Typical dental manifestations include:

• Periodontal disease (gum disease) at a young age
• Tooth fragility and increased risk of chipping or breaking
• Early tooth loss despite good oral hygiene
• Temporomandibular joint dysfunction (TMJ) with jaw pain, clicking, and dislocation
• High, narrow palate (roof of the mouth)
• Difficulty with dental anesthesia – may require higher doses or experience ineffectiveness

Dental procedures can be challenging for people with EDS due to jaw instability, difficulty maintaining open mouth position, and potential complications from tissue fragility. Specialized dental care from professionals familiar with EDS is important to prevent complications and manage oral health effectively.

10. Autonomic Dysfunction

Many individuals with Ehlers-Danlos syndrome experience autonomic nervous system dysfunction, which affects involuntary body functions like heart rate, blood pressure, digestion, and temperature regulation.

Signs of autonomic dysfunction include:

• Dizziness or lightheadedness, especially when standing up
• Heart palpitations or inappropriate heart rate increases
• Temperature regulation problems – feeling too hot or too cold
• Excessive sweating or inability to sweat normally
• Brain fog and difficulty concentrating
• Exercise intolerance beyond what joint problems alone would explain

Postural orthostatic tachycardia syndrome (POTS) is particularly common in EDS patients. This condition causes an excessive increase in heart rate upon standing, along with symptoms like dizziness, fatigue, and near-fainting. The connection between EDS and autonomic dysfunction isn’t fully understood but likely involves multiple mechanisms including blood vessel elasticity problems and nervous system abnormalities.

11. Characteristic Facial Features

Some types of Ehlers-Danlos syndrome are associated with distinctive facial characteristics, though these features are subtle and not present in all cases. The Ehlers-Danlos syndrome face is most notable in classical and vascular types.

Facial features may include:

• Soft, smooth, translucent-appearing skin on the face
• Large, downward-slanting eyes
• Thin nose and lips
• Prominent eyes with visible veins around the eye area
• Small chin or receding jaw
• Lobeless ears or ears that appear folded
• Early aging appearance of facial skin despite youthfulness

These facial characteristics are generally mild and may not be noticeable to untrained observers. However, physicians experienced in diagnosing EDS may recognize these subtle patterns as part of the diagnostic picture. It’s important to note that many people with EDS have completely normal facial features, so their absence doesn’t exclude the diagnosis.

What Causes Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is caused by genetic mutations that affect collagen production or processing. Understanding these causes helps explain why the symptoms occur and why they vary between individuals.

Genetic mutations: EDS results from mutations in genes responsible for making or processing collagen. Different genes are affected in different types of EDS. For example, mutations in the COL5A1 or COL5A2 genes cause classical EDS, while COL3A1 mutations cause vascular EDS. For hypermobile EDS (hEDS), the genetic cause hasn’t been definitively identified yet, though research is ongoing.

Inheritance patterns: Most types of EDS follow an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene (from either parent) is needed to cause the condition. Some rarer types follow autosomal recessive inheritance, requiring mutations from both parents. A person with EDS has a 50% chance of passing the condition to each of their children when the inheritance is autosomal dominant.

Spontaneous mutations: In some cases, EDS occurs due to new (de novo) mutations that weren’t present in either parent. These spontaneous genetic changes can happen during egg or sperm formation or early embryonic development.

Collagen defects: The genetic mutations lead to problems with collagen structure, quantity, or assembly. Collagen is the most abundant protein in the body and provides strength and elasticity to connective tissues. When it’s defective, tissues throughout the body become fragile and overly stretchy, resulting in the various symptoms of EDS.

Frequently Asked Questions About Ehlers-Danlos Syndrome

What is the most common type of Ehlers-Danlos syndrome?

Hypermobile EDS (hEDS) is the most common type, accounting for approximately 90% of all EDS cases. It primarily affects joints and is characterized by joint hypermobility, chronic pain, and frequent dislocations, though skin involvement is generally milder than in other types.

Is Ehlers-Danlos syndrome painful?

Yes, chronic pain is one of the most significant symptoms of EDS. The pain primarily affects joints but can also involve muscles, and it results from joint instability, frequent dislocations, and the constant strain on connective tissues. Pain severity varies widely among individuals and can significantly impact quality of life.

Can Ehlers-Danlos syndrome be diagnosed with a blood test?

For some types of EDS, genetic testing can confirm the diagnosis by identifying specific gene mutations. However, for hypermobile EDS (the most common type), no genetic test is currently available. Diagnosis relies on clinical examination, family history, and meeting specific diagnostic criteria established by medical experts.

Does Ehlers-Danlos syndrome get worse with age?

EDS symptoms often become more pronounced with age due to cumulative joint damage and wear. However, the genetic condition itself doesn’t progress—rather, the effects of living with unstable joints and fragile tissues accumulate over time. Early diagnosis and proper management can help slow the progression of joint damage.

Can you have a normal life with Ehlers-Danlos syndrome?

Many people with EDS lead fulfilling lives, though they may need to make certain adaptations. The impact varies greatly depending on the type and severity of EDS. Some individuals have mild symptoms requiring minimal intervention, while others experience significant disability. Proper management, including physical therapy, pain management, and lifestyle modifications, can greatly improve quality of life.

What is the life expectancy with Ehlers-Danlos syndrome?

For most types of EDS, life expectancy is normal. However, vascular EDS (vEDS) is associated with reduced life expectancy due to the risk of arterial or organ rupture, with median survival being approximately 48-51 years. Early diagnosis and careful management can improve outcomes even in vascular EDS.

Is Ehlers-Danlos syndrome an autoimmune disease?

No, EDS is not an autoimmune condition. It is a genetic connective tissue disorder caused by mutations affecting collagen production. Unlike autoimmune diseases where the immune system attacks the body’s own tissues, EDS results from structurally defective collagen due to genetic mutations.

Can Ehlers-Danlos syndrome affect pregnancy?

Yes, pregnancy can present unique challenges for women with EDS. The hormonal changes during pregnancy can increase joint laxity, potentially worsening symptoms. There may also be increased risks of premature delivery, pelvic floor complications, and tissue tears during delivery. However, many women with EDS have successful pregnancies with appropriate medical monitoring and care planning.

References:

• Mayo Clinic – Ehlers-Danlos Syndrome
• NHS – Ehlers-Danlos Syndromes
• National Institute of Neurological Disorders and Stroke – Ehlers-Danlos Syndrome
• National Organization for Rare Disorders (NORD) – Ehlers-Danlos Syndrome
• Johns Hopkins Medicine – Ehlers-Danlos Syndrome
• Cedars-Sinai – Ehlers-Danlos Syndrome