Ehlers-Danlos

Presently, genetic testing is the most accurate method to confirm a diagnosis of vEDS and cvEDS. The testing will show if there are any abnormalities present in your collagen genes (as relevant). This is a more accurate method than looking only at related symptoms as other conditions may present similarly to vEDS and cvEDS.

However, because no gene mutation has yet been confirmed as causing hEDS, genetic testing cannot be used to diagnose the disease. Instead, other clinical tests and thorough clinical examination will need to be performed alongside a detailed history of your health, to diagnose the condition.

Regardless, once you have your diagnosis, you can begin managing your EDS in the best way possible, limiting damage and risk to your heart and health. This is why an early diagnosis is best.

Across the spectrum of EDS types, symptoms and pain associated will differ. For instance, those with vEDS may feel sudden onset pain that is sharp or feels like a tearing wherever an artery or organ has become affected. At the same time, those with cvEDS may experience similar pains or different ones, based on the event that is occurring to them. For example, if they are experiencing a mitral valve prolapse, they may have a racing or irregular heartbeat, feel dizzy or lightheaded, and have difficulty breathing.

Those with hEDS generally experience chronic pain that can affect any and all parts of the body, including occurring as a general overall body pain. When this pain flares, it can be severe and disabling.

This depends very much on the type of EDS you have. vEDS is the most serious form because of the risk of sudden organ rupture and dissection, and previously the condition was often diagnosed only after the loss of a loved one. Now, with the availability of comprehensive and precise genetic testing, the diagnosis of vEDS can be made early and appropriate prevention can help reduce the chances of these life-threatening complications. There are individuals with vEDS who live well into retirement, and early diagnosis is vital in minimising the risk of sudden death. As cvEDS is significantly less common, data to predict an expected lifespan is lacking, but it seems to be a less severe condition compared to vEDS. 

Because hEDS can affect the heart less severely than vEDS or cVEDs, the average life expectancy is on par with a person without the disease. Quality of life, however, may be affected if treatment and management of the disease is not started and maintained.

It’s important to remember that ultimately your lifespan is affected by the management of the condition, including early diagnosis of potential issues and minimising risk, like avoiding trauma to the body to reduce the likelihood of ruptures and maintaining a low blood pressure. Remember: you can take action to minimise the long-term effects of your EDS in order to help prolong your life and improve your quality of life.

For those with hEDS, vEDS or cvEDS, your day-to-day life should not look too different from anyone else's. More care will need to be taken to avoid damage to your heart and connective tissue, so it’s best to avoid high-intensity, competitive or contact sports. Additionally, you may need to take medication to manage high blood pressure to reduce strain on your heart and blood vessels. If you have hEDS, you probably will benefit from regular physical therapy guided by an exercise physiologist or physiotherapist that understands hypermobility, to strengthen your muscles and stabilise your joints.

Preparation may also become a part of your routine, like wearing a medical alert bracelet, and having health information and contact details on your person in case of an emergency. You will also need to have an in-depth discussion with your general practitioner or cardiologist if you would like to become pregnant and/or grow your family. 

However, once steps like these become a habit, they will impact your life minimally.

Unfortunately there is no cure or disease-specific Ehlers-Danlos syndrome treatment for any of the EDS types. However, there are now very good treatments available to improve the symptoms associated with EDS, and there are certain investigations that can pick up issues early so that the chances of a rare and serious complication can be reduced significantly.

As both vEDS and cVEDS predominantly affect the heart, your treatment plan will often focus on monitoring and managing any damage to your heart or arteries. This can include regular check-ups and heart tests to catch any problems early. Similarly, treating high blood pressure to reduce the strain on your heart and blood vessels is also useful. 

If you have hEDS, you will also need to be conscious of your heart health and be treated appropriately. However, your treatment plan will also include physical therapy and other measures to support your muscles and joints.

Additionally, limiting accidents or risks through lifestyle choices can play a big role when fragility is a concern for all three types of EDS. For instance, non-competitive, low-moderate intensity exercise is advised, such as brisk walks, slow jogs and swimming. This helps limit rises in your blood pressure which can place stress on your heart and blood vessels, as well as the risk of sudden impacts or jarring to your body which can damage fragile organs or blood vessels. 

As part of managing your lifestyle, care needs to be taken if you are to become pregnant. This care includes management in a ‘high-risk’ pregnancy service that includes close monitoring throughout the pregnancy. There is also the possibility of genetic testing of the fetus to determine if the condition will be passed onto your child. Working with an Ehlers-Danlos syndrome specialist doctor or healthcare team who understands the complexities of your EDS condition can help limit risks and ensure you receive the best care possible.

While both Marfan's syndrome (also known as Marfan syndrome) and Ehlers-Danlos syndrome are genetically inherited connective tissue disorders that can affect the heart, they are not the same condition. Marfan syndrome is a result of an abnormality in the FBN1 gene, whereas vEDS and cvEDS are caused by abnormalities with the COL1A2 gene, and COL1A2 and COL3A1 genes respectively. As a result, they present differently to a specialist with expertise in the area. While heart issues like aortic ruptures and valve malformations can be signs of both conditions, other Marfan’s syndrome symptoms or EDS signs can help narrow down the diagnosis. Similarly, even though there is no identified gene mutation for hEDS, there are symptoms that can distinguish it from Marfan syndrome.

EDS is a lifelong illness with no cure. However, through specialised care, much can be done to improve symptoms and quality of life. People with EDS require tailored care by health professionals who are familiar with their particular type of EDS so that their health is optimised.

If you or your partner have hEDS, vEDS and/or cvEDS, it’s possible for your child not to inherit it. However, the likelihood of inheritance differs between both conditions due to the way they are passed down. 

If you have vEDS, there is a 50% chance your child will inherit it. hEDS has been seen to generally follow an autosomal dominant inheritance pattern too, so it can be assumed that there is also a 50% chance of passing the condition onto your child. For your child to have cvEDS, both you and your partner need to have the condition or be carriers of the condition. This makes it very unlikely that a child will be affected. 

If you are considering starting or expanding your family and suspect you may have one of these EDS types or be a carrier, genetic testing can help make the picture clearer. Additionally, you can also have prenatal tests completed to check if your child has either condition. Alternatively, you can choose to have only embryos that are negative for the genetic faults implanted to ensure that your child does not have the disorder - this is called pre-implantation genetic diagnosis.

Ehlers-Danlos syndrome signs and symptoms for these three types can become apparent soon after birth. However, in most people the signs and symptoms develop as they get older. Because there is so much variability, even within the same family, it is not always a clear diagnosis. Therefore, specialised genetic testing is the best and often the only way to confirm a diagnosis if you, your general practitioner or cardiologist is suspicious that you may have vEDS or cvEDS. There is no genetic test available for hEDS as of yet.

To help you prepare for this discussion, it can be useful to document related symptoms, conditions and family health histories and bring this information along. Then, based on their professional opinion, your doctor can suggest initial testing, like an ECG, to provide further weight to an Ehlers-Danlos syndrome diagnosis. This can then be confirmed through genetic testing for Ehlers-Danlos syndrome.

EDS is named after two of the doctors who helped identify the syndrome. The first is Edvard Lauriz Ehlers — a Danish dermatologist who noted a patient with hyperextensible skin and a tendency to bruise easily — and the other is Henri-Alexandre Danlos — a French physician who posited a patient’s condition was a result of trauma, with skin lesions being vascular and inflammatory in nature. Naming the collective syndrome after these two doctors highlights their contribution to documenting and detailing the condition.