Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders caused by a defect in one of the genes that control the production of connective tissue. The condition causes flexible joints, elastic skin and fragile tissues.
A type of Ehlers-Danlos Syndrome known as vascular or hypermobile EDS can cause unpredictable tearing of the walls of blood vessels, intestines or uterus — which can lead to easy bruising, internal bleeding or a hole in the wall of your intestine (intestinal perforation). This can be fatal.
Ehlers-Danlos syndrome is caused by defects in collagen, the protein that helps to strengthen and flexibly connect your bones, muscles, blood vessels and organs. This means that your joints can be loose, and your skin can be thin and easily bruised.
People with the more severe Ehlers-Danlos syndrome, vascular Ehlers-Danlos syndrome (vEDS), have a higher risk of rupturing the blood vessels and other organs. This can be very painful and even fatal.
Your doctor may be able to diagnose vEDS based on your symptoms and history of injury. Your GP may refer you to a rheumatologist (a doctor who specializes in disorders of the joints, muscles and bone) for testing and treatment.
You will also need a blood test to see whether you have the gene that causes Ehlers-Danlos syndrome. If you do, your doctor will give you a diagnosis.
There are several types of Ehlers-Danlos syndrome, including classic (more common) and hypermobile (hEDS). Each has its own set of features.
Because of the variety of symptoms and signs, your doctor will need to perform a physical examination and ask about your family history to make a diagnosis. Your doctor will also need to look at your joints and skin.
The skin is integral to the body’s connective tissue, supporting other tissues and organs. In Ehlers danlos syndrome, a genetic defect in collagen causes loose or flexible skin that may be fragile and easily damaged by injury.
These problems can lead to various symptoms, including dry skin more prone to cracking and bleeding. Additionally, it can be more difficult to heal wounds in Ehlers-Danlos patients because the skin doesn’t have a solid barrier to keep fluid in and out of the damage.
In addition, some patients with Ehlers-Danlos have fragile blood vessels that can easily rupture. This can lead to severe complications.
Because these issues can vary between Ehlers-Danlos, understanding them is essential. Specifically, 13 subtypes of the disorder have their own sets of symptoms.
Each subtype has its cutaneous hallmarks and critical features in diagnosing that type of Ehlers-Danlos syndrome. Understanding these cutaneous hallmarks will help your doctor diagnose the condition and treat you properly.
The skin is often an early presenting feature in most EDS patients. However, some EDS types have more significant cutaneous manifestations than others. Examples include classical EDS (cEDS), dermatosparaxis EDS, and hypermobile EDS (hEDS).
Ehlers-Danlos syndrome is caused by a defect in collagen (proteins that add strength and flexibility to connective tissue), which supports your skin, blood vessels and bones. Doctors can diagnose Ehlers-Danlos syndrome by looking at your genes and performing tests to identify faulty collagen.
Among the most common symptoms of Ehlers-Danlos syndrome is joint pain, which can range from mild discomfort to severe pain. If you experience a painful joint, a doctor may prescribe medication like paracetamol or ibuprofen.
People with hypermobility Ehlers-Danlos syndrome have loose joints that can dislocate or separate with a bit of pressure. This can lead to painful and sometimes dangerous joint problems, such as sprains, strains and arthritis.
Other types of Ehlers-Danlos syndrome have varying signs and symptoms, including problems with the heart’s valves or curved bones in the spine that can interfere with breathing. The vascular type of Ehlers-Danlos syndrome can cause the walls of your blood vessels to weaken, increasing your risk of having an artery rupture and leading to a heart attack.
Although many people with the generalized joint hypermobility type of Ehlers-Danlos syndrome do not meet the criteria for any other types of Ehlers-Danlos syndrome, some will develop a more severe form of the disease called hEDS over time. Symptoms of hEDS include muscle weakness, stiffness and pain in the shoulders, neck, back, hips and feet.
Fatigue is a common problem in Ehlers-Danlos syndrome, and it may present in a way that is similar to Chronic Fatigue Syndrome (CFS). The fatigue associated with EDS can be disabling and impair quality of life.
There are several ways to help manage fatigue in EDS, including physical and psychological strategies. These include avoiding caffeine and sugar close to bedtime, getting enough sleep, planning daily activities and using cognitive behavioral therapy (CBT) to reduce fatigue and improve energy levels.
A good diet can also help to reduce fatigue. This is because it can boost your body’s natural hormone production, which increases energy and alertness. It’s essential to get the right balance of vitamins and minerals to keep your body healthy and robust, and it’s also vital that you don’t overeat.
It’s also important to avoid caffeine or nicotine close to bedtime as they can make you drowsy. Exercise can also help to manage fatigue, especially when done slowly and with a qualified physiotherapist.
Fatigue is a serious issue for people with Ehlers-Danlos syndrome and needs to be addressed early. It can affect a person’s ability to attend a school or work and lead to long-term mental health effects. This means that it’s essential to work with the patient and their family to help them manage their condition and ensure they have a quality of life.