All about Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders. These syndromes affect the structure and function of collagen, which is an essential protein that provides strength and elasticity to the skin, bones, ligaments, blood vessels, and other tissues throughout the body. According to the British Medical Journal, joint hypermobility in itself is quite common and is thought to affect 10% of the UK population.

Somewhat surprisingly, the majority of men who receive a diagnosis of the condition (72%) do so before the age of 18. However, only 41% of women are diagnosed before adulthood. In this article, we’ll tell you all about Ehlers-Danlos syndrome, including its symptoms, effects and different types.

What is Ehlers-Danlos syndrome?

There isn’t just one Ehlers-Danlos syndrome (EDS). In fact, EDS refers to a group of 13 different genetic disorders that are related to connective tissues. The most recent type of EDS was discovered in 2018.

Symptoms vary depending on the type but they often include loose joints, stretchy skin, joint pain and abnormal formation of scars. Though many of these symptoms are noticeable at birth or early childhood, many patients (often women) aren’t diagnosed until adulthood. The condition does also carry complications for many and these include joint dislocations, scoliosis, early osteoarthritis, chronic pain and aortic dissection.

The condition is caused by genetic abnormalities and the affected gene will determine which type of EDS a person has.

Symptoms of Ehlers-Danlos syndrome

As there are so many different types of EDS, the symptoms of the condition can vary. However, there are some common symptoms.

These include:

• Joint hypermobility: many people with EDS have overly flexible joints that move beyond the normal range of motion. This can lead to joint pain and dislocations.
• Skin abnormalities: some people with EDS have stretchy skin that is fragile and easily bruised. Scars might also develop easily and wounds are slow to heal.
• Chronic pain: lots of people with EDS have chronic pain. This is usually focused in the joints, spine and muscles.
• Gastrointestinal issues: EDS can affect the digestive system. This leads to problems like chronic constipation, acid reflux and bloating.
• Cardiovascular problems: for some people with EDS, the blood vessels are weaker. This leads to complications like arterial dissections and aneurysms.
• Eye problems: sometimes, people with EDS have eye problems like dislocated lenses, near-sightedness and other problems with their vision.

All people diagnosed with EDS are unique and so are their symptoms. The symptoms can also vary in severity. Sometimes, a person isn’t diagnosed with EDS until they are older or they might have symptoms that don’t significantly impact their day-to-day life.

Types of Ehlers-Danlos syndrome

Currently, there are 13 different types of Ehlers-Danlos syndrome recognised. Each type of EDS has its distinct symptoms, diagnostic criteria and genetic cause.

Here is an overview of the different types:

• Classical type
  This is the most common type of EDS. It is characterised by skin hyperextensibility, joint hypermobility, easy bruising and scarring. It is caused by genetic mutations in the COL5A1 or COL5A2 genes.
• Hypermobility type
  This type of EDS is characterised by joint hypermobility, chronic pain, and skin that is soft and velvety to the touch. This is caused by mutations in the COL3A1 gene.
• Vascular type
  This is a rare type of EDS but it is one of the most severe. It is characterised by thin, translucent skin and arterial and organ rupture. There is a high risk of death due to the potential ruptures of organs and blood vessels. This is caused by genetic mutations in the COL3A1 gene.
• Kyphoscoliosis type
  With this type of Ehlers-Danlos syndrome, there is severe curvature of the spine as well as joint hypermobility and muscle weakness. This is caused by mutations to the PLOD1 gene.
• Arthrochalasia type
  This type of EDS comes with severe joint hypermobility, congenital hip dislocation and skin hyperextensibility. It is caused either by mutations in the COL1A1 or COL1A2 genes.
• Dermatosparaxis type
  This type is characterised by sagging and extremely fragile skin that tears easily. It is caused by mutations in the ADAMTS2 gene.
• Brittle cornea syndrome
  This type causes thinning and rupturing of the cornea as well as easy bruising and joint hypermobility. This is caused by mutations in the ZNF469 gene.
• Spondylodysplastic type
  This type of EDS is characterised by scoliosis, joint hypermobility and short stature. It is caused by B4GLT7 gene mutations.
• Musculocontractural EDS
  This type of Ehlers-Danlos comes with distinctive facial features, congenital contractures, scoliosis and hypermobility. This is caused by mutations in the CHST14 gene.
• Myopathic type
  This type of EDS is caused by mutations in the COL12A1 gene, which cause muscle weakness and hypotonia.
• Periodontal type
  Due to mutations in the C1R or C1S genes, people with this type of EDS have early tooth loss and severe gum disease.
• Cardiac-valvular type
  This is caused by mutations in the COL1A2 gene. The mutations cause heart valve abnormalities, joint hypermobility and skin hyperextensibility.
• Dysfibronectinemic type
  With this type of EDS, patients have abnormalities in their fibronectin, which is a protein involved in cell adhesion. This is caused by FN1 genetic mutations.

Ehlers-Danlos syndromes are still being researched and so it is likely that new types or classifications of existing types will evolve over time.

Causes of Ehlers-Danlos syndrome

As we’ve seen by exploring the different types of Ehlers-Danlos syndrome, this condition is largely caused by different genetic mutations. Despite the different mutations and types of EDS, they all affect the production or structure of collagen. This is a protein that provides strength and structure to connective tissues throughout the body.

Due to the genetic mutations involved, EDS is hereditary. Sometimes, the genetic mutations that cause EDS are not inherited from a parent and occur spontaneously. This is called a ‘de novo’ mutation.

Typically, EDS is autosomal dominant. This means a person only needs to inherit one copy of the mutated gene to develop the condition. So if only one parent has the gene, their offspring can still develop EDS.

In some cases, EDS is autosomal recessive, which means two copies are needed to develop the condition (one from each parent).

Though genetics do, of course, play a major role in developing the condition, other factors like hormonal changes, nutritional deficiencies and environmental factors also play a role in how the symptoms present and how severe they are.

Who is at risk of Ehlers-Danlos syndrome?

Given that Ehlers-Danlos syndrome is a genetic disorder, a family history of the condition will put a person at risk of developing the condition.

However, a person’s specific risk of developing EDS will depend upon the type of Ehlers-Danlos and its inheritance pattern. For example, the classical type of EDS is most common and this is inherited in an autosomal dominant pattern. As such, a person only needs to have one copy of the faulty gene to develop the condition. If a parent has the faulty gene, their offspring have a 50% chance of inheriting it. Sometimes, EDS is caused by a spontaneous mutation but this is a low risk of occurrence.

EDS is rare, and a person’s overall risk of developing the condition is relatively low.

Effects of Ehlers-Danlos syndrome

The wider effects of Ehlers-Danlos syndrome besides the symptoms can be significant and might impact various aspects of a person’s life.

Here are some of the common effects of EDS:

1. Joint hypermobility: people who have joint hypermobility often need to avoid activities that put excessive strain on their joints. This involves things like heavy lifting, high-impact exercise like running and repetitive motions. It’s also important to work with a physiotherapist or occupational therapist to develop safe exercise programmes to focus on improving joint stability and strength while avoiding wear and tear.

2. Skin and tissue fragility: people who have skin and tissue fragility need to take extra care to protect their skin from injury. This might involve wearing protective clothing and using high-factor sunscreen. Contact sports or manual labour should also be avoided as this puts people at risk of trauma.

3. Chronic pain: managing chronic pain with EDS often involves a combination of physiotherapy and medication. Many people choose to use complementary therapies too like massage or acupuncture.

4. Weakness and fatigue: people with fatigue and weakness due to their EDS need to prioritise good sleep hygiene. A good exercise programme can also help build strength and endurance.

5. Gastrointestinal problems: people suffering from gastrointestinal problems might be advised to make dietary changes or take medication. Sometimes Biofeedback therapy is useful.

6. Cardiovascular problems: when people have the vascular type of EDS, they will be monitored closely by their cardiologist who will look for signs of organ or arterial rupture. In this situation, people may be unable to take part in risky activities like heavy lifting or contact sports.

7. Dental problems: if EDS causes dental problems, people should seek support from a dentist who is familiar with the condition. Specialised dental care like surgery or orthodontics might be needed.

Managing EDS typically requires a multidisciplinary approach. It might involve a team of different healthcare providers, including people like geneticists, physiotherapists, primary care doctors, and specialists in a range of fields. Each person with EDS is unique and their support and healthcare requirements will also be individual.

How is Ehlers-Danlos syndrome diagnosed?

Ehlers-Danlos is often difficult to diagnose because it shares symptoms with lots of other conditions. It’s also difficult due to the different types of EDS.

Typically, these are the steps involved in diagnosing the condition:

1. A doctor will take a medical history and ask about symptoms. They will ask about any family history of EDS or related conditions.

2. A doctor will perform a physical exam to look for signs of Ehlers-Danlos syndrome. This will look for hypermobility of the joints, tissue fragility and skin hyperextensibility.

3. If EDS is suspected, genetic testing will be carried out. Different genes cause different types of Ehlers-Danlos and so knowing which genes have mutated can help with knowing which treatment and management is best. The genetic test might be done via a blood or saliva test.

4. Skin biopsies: sometimes skin is tested to check its collagen structure. Abnormal collagen is a hallmark of many types of EDS.

5. Other tests like imaging studies and heart tests might be carried out depending on the symptoms. This could be to check for complications of EDS or to rule out other conditions that could be causing the symptoms.

Usually, it is a geneticist that diagnoses EDS but it might be another specialist who has experience with Ehlers-Danlos. Sometimes people don’t meet all of the diagnostic criteria or they don’t have a confirmed gene mutation. In this situation, it is possible to be diagnosed on clinical judgement alone as so much is still not understood about the condition.

Treatment for Ehlers-Danlos syndrome

Ehlers-Danlos syndrome cannot be cured but there are treatments that help manage symptoms and prevent complications. Each person’s treatment plan will be individual to them and it will depend on the type and severity of their EDS condition.

Here are some common treatments:

• Pain management
  Treatment for pain might involve a combination of medications, including nonsteroidal anti-inflammatory drugs (NSAIDs), acetaminophen or opioids. People might also use complementary therapies like acupuncture and massage to help them with pain.
• Physiotherapy
  A physiotherapist will help people to develop an exercise programme that will improve their strength and joint stability. This will be tailored to each person’s individual needs and will help to address specific problems like gait abnormalities or muscle weakness.
• Bracing
  Orthotic devices like braces, splints and shoe inserts can help some people with EDS. They can support and stabilise the joints to reduce the risk of injury.
• Surgery
  Sometimes, people will need surgery. This will be for things like joint damage repair or to correct spinal deformities. Surgery might also be required for people who have other complications caused by Ehlers-Danlos syndrome.
• Psychological support
  People with Ehlers-Danlos syndrome might benefit from psychological support like counselling or support groups. This support can help them to manage the emotional impact of living with their chronic condition.
• Medication for specific symptoms
  Depending on the type of EDS, a patient might need other medication to deal with symptoms. This could be something like beta blockers or angiotensin receptor blockers to help manage cardiovascular problems, for example. Some people also use laxatives or loperamide (anti-diarrhoea medication) to manage gastrointestinal symptoms.

Support for those with Ehlers-Danlos syndrome

People with Ehlers-Danlos syndrome have a range of support services available to them and their families. There are both online and in-person support groups where patients can connect with others who share their experiences. These groups also provide a valuable space for advice, support and encouragement.

Social services can also help, depending on the specific needs of the individuals with EDS. They might be able to help with disability services, financial assistance and transportation, for example.

There are also two UK charities that help people with EDS, which are:

• Ehlers-Danlos Support UK
• Mind Body EDS

Final thoughts

In conclusion, Ehlers-Danlos syndrome (EDS) is a rare genetic condition that affects the body’s connective tissue and can cause a wide range of symptoms and complications. While there is no cure for EDS, there are many treatments and support options available to help manage symptoms, prevent complications and improve quality of life.

Early diagnosis and management are important for people with EDS, as this can help prevent or minimise the impact of complications and improve outcomes. With proper care and support, people with EDS can live full and meaningful lives, and find strength and community in the face of this challenging condition.