Ehlers-Danlos Syndrome

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is the name for a group of inherited conditions that affect connective tissue. Connective tissue is the material that supports, binds, and protects other tissues in the body. It is found in skin, joints, blood vessel walls, and internal organs. In people with Ehlers-Danlos syndrome, this tissue is weaker or more stretchy than usual, most often because of a problem with collagen, the main structural protein in connective tissue.

Because connective tissue is everywhere, EDS can affect many parts of the body at once. The most common features are joints that move beyond the normal range (hypermobility), skin that stretches more than usual, and tissue that is fragile and bruises or scars easily. The condition is present from birth, although signs may not be noticed until later in childhood or adulthood.

Doctors currently recognize thirteen types of Ehlers-Danlos syndrome, each defined by its own pattern of features and, in most cases, its own genetic cause. The hypermobile type is by far the most common. Others, such as the classical and vascular types, are rarer. EDS affects people of all sexes and ethnic backgrounds. Because it is genetic, it often runs in families, though the severity can vary a great deal even between relatives who share the same type.

Ehlers-Danlos syndrome symptoms

Ehlers-Danlos syndrome symptoms vary widely depending on the type and from person to person. Some people have mild joint looseness and little else; others have frequent injuries, chronic pain, or serious problems with blood vessels or organs. The features below are among the most common.

• Joint hypermobility: joints that bend further than normal, sometimes described as being "double-jointed"
• Joint instability: joints that partly slip out of place (subluxation) or fully dislocate, often with minor movements
• Chronic joint and muscle pain: aching or sharp pain that can be widespread and persistent
• Stretchy skin: skin that can be pulled further than usual and snaps back (hyperextensibility)
• Fragile skin: skin that tears or splits easily, especially over the knees, elbows, and shins
• Easy bruising: bruises that appear after minor bumps or without a clear cause
• Slow or unusual wound healing: wounds that take longer to close and leave wide, thin, or papery scars
• Fatigue: tiredness that is not relieved by rest
• Digestive problems: reflux, constipation, bloating, or other bowel symptoms
• Dizziness on standing: a rapid heartbeat or lightheadedness when getting up, which some people with EDS experience

Symptoms often change over time. Children may appear very flexible and prone to sprains but have little pain. In the teenage years and adulthood, joints can become less flexible while pain, instability, and fatigue often become more noticeable. Repeated dislocations may lead to early joint wear.

The pattern also differs by type. In hypermobile EDS, joint problems and pain usually dominate. In classical EDS, the skin findings, including very stretchy skin and characteristic scarring, are more prominent. In vascular EDS, the skin is often thin and translucent, and the main concern is fragility of blood vessels and hollow organs such as the bowel and uterus, which can rupture. Other rare types may involve severe curvature of the spine, weak muscle tone, eye problems, or dental and gum disease. Because features overlap, a doctor experienced with connective tissue disorders is usually needed to sort out which type may be present.

Causes and risk factors

Ehlers-Danlos syndrome causes are genetic. Genes carry the instructions for making proteins, and in EDS a change (variant) in one of several genes disrupts the production, structure, or processing of collagen or of proteins that work alongside collagen. The result is connective tissue that is weaker, looser, or more fragile than normal.

Different types of EDS are linked to different genes. For example, classical EDS is most often related to changes in genes that code for type V collagen, and vascular EDS is linked to a gene for type III collagen, which is important in blood vessel and organ walls. For hypermobile EDS, the most common type, the responsible gene or genes have not yet been identified, so it is diagnosed on clinical features rather than by genetic testing.

EDS is inherited in more than one way:

• Autosomal dominant inheritance: a single altered copy of the gene, from either parent, is enough to cause the condition. Each child of an affected parent has a one-in-two chance of inheriting the variant. Hypermobile, classical, and vascular EDS usually follow this pattern.
• Autosomal recessive inheritance: both copies of the gene must be altered, one from each parent. The parents are typically unaffected carriers. Several rarer types are inherited this way.
• New (de novo) variants: in some people the gene change happens for the first time, with no family history.

The main risk factor is having a parent or close relative with Ehlers-Danlos syndrome. There is nothing a person does, eats, or is exposed to that causes EDS, and it cannot be caught from someone else. However, certain factors can influence how much trouble the condition causes once present. Repetitive strain, contact sports, heavy lifting, and injuries may increase joint damage in people with fragile tissue. Pregnancy places extra stress on connective tissue and needs careful planning in some types, especially vascular EDS.

Ehlers-Danlos syndrome diagnosis

There is no single test that confirms every form of EDS, so Ehlers-Danlos syndrome diagnosis relies on a combination of history, physical examination, standardized criteria, and, for many types, genetic testing. The process often involves several specialists, including geneticists, rheumatologists (doctors who treat joint and connective tissue conditions), and physiotherapists.

A doctor will usually begin by asking about symptoms, injuries, dislocations, bruising, healing, and family history. During the examination, they may look for skin stretchiness, unusual scars, and signs of joint hypermobility. A widely used tool is the Beighton score, a nine-point scale that checks how far specific joints, such as the thumbs, little fingers, elbows, knees, and spine, can move. A high score suggests generalized hypermobility but does not on its own mean a person has EDS, since many people are flexible without having a connective tissue disorder.

In 2017, an international group of experts published updated diagnostic criteria for all types of EDS. For hypermobile EDS, the diagnosis is clinical: a person must meet a defined set of criteria covering joint hypermobility, certain body and skin features, family history, and musculoskeletal complications, while other conditions that could explain the symptoms are excluded. For the other twelve types, the criteria describe major and minor features that raise suspicion, and a genetic test is then used to confirm the specific type.

Tests and assessments your doctor may use include:

• Genetic testing: a blood or saliva sample is analyzed for variants in the genes known to cause EDS. This is the confirmatory test for most non-hypermobile types.
• Skin biopsy: in selected cases a small skin sample is examined to study collagen structure or how the cells make collagen.
• Echocardiogram: an ultrasound of the heart, used to check the aortic root (the start of the main artery leaving the heart) and heart valves, which can be affected in some types.
• Imaging of blood vessels: such as CT or MR angiography, mainly when vascular EDS is suspected.
• X-rays or MRI: to assess joint damage, spinal curvature, or other complications.
• Eye examination: in types where eye involvement is a concern.

Because EDS shares features with other heritable connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome, part of the assessment is ruling these out. Genetic counseling is normally offered alongside testing so that people understand what a result means for them and their relatives. In hospital groups such as Acibadem, this evaluation is commonly coordinated through the Medical Genetics Department in cooperation with other specialties.

Ehlers-Danlos syndrome treatment options

There is currently no cure for Ehlers-Danlos syndrome and no treatment that repairs the underlying connective tissue defect. Ehlers-Danlos syndrome treatment therefore focuses on protecting joints and tissues, managing pain and other symptoms, preventing complications, and helping people stay active. A plan is usually built around the person’s type and specific problems and is adjusted over time.

Physiotherapy and rehabilitation

Physiotherapy is often the foundation of care. A therapist familiar with hypermobility can teach low-impact exercises that strengthen the muscles around unstable joints, improve joint position sense, and support posture. Programs typically progress slowly to avoid flare-ups. Occupational therapists may suggest splints, braces, supportive footwear, or changes to how daily tasks are done in order to reduce strain. Aids such as compression garments or taping are used by some people to improve joint stability.

Pain management

Pain is managed in a stepwise way. Over-the-counter pain relievers such as acetaminophen may be suggested for mild pain. Non-steroidal anti-inflammatory drugs (medicines that reduce pain and inflammation) are sometimes used, but with caution in people who bruise or bleed easily. Stronger medications are generally avoided or used only for short periods. Heat, gentle movement, pacing of activities, and psychological approaches such as cognitive behavioral therapy can help people cope with long-term pain. Your doctor may refer you to a pain specialist if pain is severe or persistent.

Managing other symptoms

Many symptoms are treated individually. Digestive complaints may respond to dietary adjustments and standard medicines for reflux or constipation. Dizziness on standing may be helped by increased fluid and salt intake, compression stockings, and in some cases medication. Wounds may need careful closure, sometimes with tape or deeper stitches left in place for longer than usual, and skin should be protected from injury. Regular dental care matters in types that affect the gums.

Monitoring and preventive care

People with types that can affect the heart or blood vessels usually have scheduled echocardiograms or vascular imaging to catch problems early. In vascular EDS, doctors may prescribe medication to lower blood pressure or reduce stress on artery walls, and invasive procedures are limited because tissues can tear. Eye and spine checks are arranged for the types that need them.

Surgery

Surgery is approached with caution because fragile tissue may heal slowly, stitches may not hold well, and bleeding can be harder to control. It may still be recommended for specific problems, such as repairing a badly damaged joint, correcting severe spinal curvature, or treating an emergency like a ruptured artery or bowel. When surgery is necessary, the surgical and anesthesia teams should be informed of the EDS diagnosis in advance so they can adapt their techniques.

Genetic counseling

Because EDS is inherited, genetic counseling helps people understand how the condition may pass to children, what testing options exist for family members, and how to plan pregnancies safely where relevant.

Living with Ehlers-Danlos syndrome and outlook

The outlook for people with Ehlers-Danlos syndrome depends largely on the type. For the hypermobile and classical types, life expectancy is generally considered normal, but chronic pain, fatigue, and joint problems can significantly affect daily life, work, and mood. Symptoms tend to fluctuate, with better and worse periods. Many people find that a consistent routine of gentle strengthening exercise, careful pacing of activity, and good sleep helps them manage.

Vascular EDS carries more serious risks because arteries and organs can rupture, sometimes without warning. Regular monitoring, blood pressure control, avoiding high-impact activities, and prompt attention to new symptoms are important. People with this type are often advised to carry information about their diagnosis so that emergency staff are aware of it.

Living with a long-term condition that is often invisible can be isolating. Support from family, employers, and patient organizations, along with mental health care when needed, is a recognized part of comprehensive management. Children with EDS can usually take part in school and many physical activities with sensible modifications, such as avoiding contact sports that carry a high dislocation risk.

Frequently asked questions

What are the first signs of Ehlers-Danlos syndrome?

Early signs often include unusual flexibility, frequent sprains or dislocations, easy bruising, and skin that stretches or scars in a distinctive way. In children, delayed walking or clumsiness is sometimes noticed. Because these features can also occur in healthy people, they do not confirm EDS on their own, and a doctor’s assessment is needed.

Is Ehlers-Danlos syndrome hereditary?

Yes. All types of EDS are caused by changes in genes and can be passed from parent to child. Most types follow an autosomal dominant pattern, meaning one affected parent has a one-in-two chance of passing it on with each pregnancy. Some rarer types require both parents to carry a gene change. Occasionally the gene change arises new in a person with no family history.

How is Ehlers-Danlos syndrome diagnosed if there is no test for the hypermobile type?

Hypermobile EDS is diagnosed clinically. A doctor uses the internationally agreed 2017 criteria, which combine a joint hypermobility score with specific skin, body, and family history features, and rules out other conditions. For the other types, genetic testing can identify the responsible gene change and confirm the diagnosis.

Can Ehlers-Danlos syndrome be cured?

No cure currently exists, and no treatment changes the underlying connective tissue. Treatment aims to manage symptoms, protect joints and tissues, and prevent complications. With appropriate care, many people are able to remain active and maintain a good quality of life, though experiences vary widely.

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

Vascular EDS is generally considered the most serious because it can weaken artery walls and hollow organs, leading to rupture. People with this type need regular monitoring and specialized care. Other types, while often painful and disabling, do not usually carry the same life-threatening risks.

Does Ehlers-Danlos syndrome get worse with age?

Symptoms often change rather than steadily worsen. Joints may become stiffer with age while pain and fatigue can increase, and repeated injuries may lead to early joint wear. Some people find symptoms stabilize in adulthood with good management. The course is highly individual and cannot be predicted with certainty.

Which doctor treats Ehlers-Danlos syndrome?

Care is usually shared among several specialists. Clinical geneticists confirm the type and provide counseling, rheumatologists or orthopedic specialists manage joint problems, and physiotherapists lead rehabilitation. Cardiologists, gastroenterologists, dermatologists, or pain specialists may join the team depending on which body systems are affected.

When to see a doctor

If you or your child have very flexible joints together with frequent dislocations, unexplained bruising, unusual scarring, or chronic joint pain, it is reasonable to ask your doctor whether a connective tissue disorder should be considered, especially if a relative has been diagnosed with EDS. If you already have a diagnosis, arrange a review whenever new or changing symptoms appear.

Seek emergency care immediately if you have a known or suspected Ehlers-Danlos syndrome and experience any of the following:

• Sudden, severe pain in the chest, back, abdomen, or flank
• Sudden severe headache, weakness, numbness, difficulty speaking, or vision loss
• Fainting, collapse, or a rapid drop in blood pressure
• Coughing up or vomiting blood, or black or bloody stools
• A wound that will not stop bleeding or a rapidly expanding bruise
• Signs of a collapsed lung, such as sudden shortness of breath with sharp chest pain
• Heavy vaginal bleeding or severe abdominal pain during pregnancy or after delivery
• A dislocated joint that cannot be put back, or a suspected fracture

These warning signs are particularly important in vascular EDS, where they may indicate a ruptured blood vessel or organ. Tell emergency staff about your diagnosis as soon as possible so they can take it into account.