17813 Ehlers Danlos Syndrome

Overview

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect your body's connective tissue — the protein 'glue' that holds skin, joints, blood vessels, and organs together. People with EDS often have very flexible joints, stretchy or fragile skin, and tissues that bruise or tear easily. There are several types, and symptoms can range from mild to serious, depending on which type and how it affects your body.

EDS is rare overall, but one type called hypermobile EDS (hEDS) may be more common than previously thought. Because symptoms can be mild, some people may not realise they have it.

EDS affects people of all ages, genders, and ethnic backgrounds. It is usually present from birth, but symptoms may not become noticeable until childhood, the teenage years, or even adulthood.

Symptoms

Common symptoms

• Very flexible joints (hypermobility) — joints can move beyond the normal range, sometimes causing sprains or dislocations.
• Stretchy, soft, or velvety skin that may bruise easily.
• Fragile skin that can tear easily and may heal slowly, leaving wide scars.
• Joint pain and a sense of looseness or instability.
• Fatigue and tiredness that is not just from lack of sleep.
• Flat feet, scoliosis (curved spine), or frequent injuries like sprained ankles.

Symptoms in children

• Delayed motor milestones, like sitting, standing, or walking later than usual.
• Clumsiness, frequent falls, or unexplained bruising.
• Loose joints and a 'double-jointed' appearance.
• Complaints of pain in the legs or joints, especially at night.
• Tiredness after normal activity.

Symptoms in older adults

• Early-onset arthritis or joint wear-and-tear.
• Chronic joint pain and stiffness.
• Muscle weakness and a higher tendency to fall.
• Skin changes, such as scarring and fragility, that become more noticeable with age.

Causes

Main causes

• Changes (mutations) in genes that tell your body how to make collagen — a key protein in connective tissue.
• These genetic changes are usually passed down from a parent, but in some rare cases they can happen for the first time in a person.
• Different types of EDS are linked to different genes and different ways collagen is affected.

Risk factors

• A family history of EDS or symptoms that look similar.
• Having a close relative who was diagnosed with any type of EDS.
• Having certain connective tissue conditions with overlapping features.

When to see a doctor

See a doctor urgently if:

• If you or your child have sudden, severe pain in the chest, belly, back, or head — call your local emergency number right away.
• If a joint has dislocated and you cannot get it back in place on your own, seek same-day care.

Book a routine appointment if:

• If you have ongoing joint pain, frequent dislocations, or easy bruising that is not explained by normal activity.
• If you notice your skin is unusually stretchy or fragile, or wounds heal poorly.
• If your child is not reaching motor milestones or complains of joint pain without an obvious injury.
• If you have a family history of EDS and want to know if it affects you.

Diagnosis

EDS is usually diagnosed by a doctor who asks about your symptoms, your family history, and does a careful physical exam. They may check how flexible your joints are, look at your skin, and see how easily you bruise or scar. There are no routine lab tests for most types, so the diagnosis is based on physical features and sometimes genetic testing.

Tests that may be done

• Beighton score — a simple way of scoring how loose your joints are.
• A physical examination of your skin, which the doctor may gently test for stretchiness and texture.
• Genetic testing — a blood or saliva test that looks for specific gene changes known to cause certain types of EDS.
• In some cases, a skin biopsy (a small sample of skin) may be taken to study the connective tissue microscopically.

What to expect at your appointment

Your doctor may refer you to a specialist, such as a rheumatologist, geneticist, or cardiologist, depending on the type suspected. Diagnosis can take time, so it is okay to ask questions and bring a list of symptoms to your appointment. Having a clear diagnosis helps you and your doctor plan the best way to protect your joints, skin, and overall health.

Treatment

Treatment for EDS focuses on managing symptoms and preventing injuries, because the genetic cause cannot be reversed. A care plan often includes physiotherapy, pain management, and lifestyle adjustments. For most people, the goal is to maintain function, reduce pain, and avoid serious complications.

Self-care at home

• Protect your joints by avoiding activities that overstretch them, and learn safe ways to move and lift.
• Use supportive devices like braces or splints if a specialist recommends them.
• Apply cold packs for joint pain or swelling, and heat packs for muscle tension.
• Pace your activities — plan rest breaks during tiring tasks.
• Take care of your skin — use sunscreen, avoid harsh soaps, and treat minor cuts promptly to reduce scarring.

Medical treatments

Medical care can include physiotherapy to strengthen the muscles around loose joints, occupational therapy to help with daily tasks, and pain relief plans led by your doctor. Some people benefit from joint supports or assistive devices. In certain types of EDS, your doctor may recommend regular check-ups for heart or blood vessel health. Any medication or supplement should only be used after talking with your doctor or pharmacist, because some can affect bleeding or wound healing.

When is surgery considered?

Surgery is usually a last resort for EDS, because fragile tissues can heal slowly or break down after surgery. However, if there is a serious injury, a joint that keeps dislocating, or a life-threatening problem like an organ or blood vessel tear, surgery may be needed. If you do need surgery, tell the surgeon you have EDS so they can take extra care.

Living with this condition

Living with EDS is about finding a balance between staying active and protecting your body. It can help to build a routine that includes gentle movement, enough sleep, and planned rest. Many people find it useful to work with a physiotherapist who understands hypermobility.

Lifestyle tips

• Choose low-impact activities like swimming, cycling, or gentle yoga over high-impact or contact sports.
• Learn to recognise your own limits — stop an activity before you feel pain or fatigue.
• Wear supportive footwear and create a safe home environment to reduce slips and falls.
• Talk to your employer or school about small adjustments, like a supportive chair or extra breaks.
• Keep a symptom diary to notice what makes your pain better or worse.

Diet and exercise

Regular, gentle exercise is important to keep muscles strong and protect your joints. Aim for exercises that don't strain or overextend your joints, such as pilates, Tai Chi, or swimming. A balanced diet helps your body repair tissue and manage energy. Always ask your doctor or a dietitian before taking any supplements, especially those that affect bleeding or collagen production.

Mental health and emotional wellbeing

Living with a chronic condition can be stressful, frustrating, or lonely, especially if you experience pain or limitation. It is normal to feel anxious or down at times. Talking to a counsellor, psychologist, or your doctor can help. Connecting with a support group where people understand your experiences can also make a big difference.

Prevention

EDS cannot be prevented because it is caused by a genetic difference present from birth. However, many complications can be prevented or reduced with careful management, such as physiotherapy, protecting your joints, and getting regular check-ups if you have a type that affects blood vessels.

Vaccines

Staying up to date with recommended vaccines is generally important for everyone, including people with EDS. Some types of EDS can affect connective tissue, but vaccines are usually safe. Always tell your doctor or pharmacist about your EDS diagnosis when you are offered any vaccine.

Screening programmes

If you have a type of EDS that can affect the heart or blood vessels, your doctor may recommend regular imaging tests, like an echocardiogram (an ultrasound of the heart). It is also sensible to have a full medical check-up from time to time to monitor for any problems.

Complications

If left untreated

• Frequent joint dislocations, sprains, or torn ligaments.
• Chronic pain and early arthritis.
• Slow-healing wounds and significant scars.
• In vascular and some other types, life-threatening tears in blood vessels or internal organs.
• Bowel or bladder problems, such as hernias, in some types of EDS.

Long-term outlook

Most people with EDS have a normal lifespan and can enjoy a good quality of life. The future depends on the type of EDS and how well symptoms are managed. With the right support, physiotherapy, and self-care, many people lead active, fulfilling lives. Even if some days are hard, there is much you can do to protect your health and stay engaged in life.

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