How Ehlers-Danlos Syndrome Affects the Body
Ehlers-Danlos syndrome affects the skin, tendons, blood vessels, and internal organs. It is caused by faults in a number of genes that make connective tissue weaker. It can be severe and life-threatening.
The faulty gene is usually passed from one parent to the child. Depending on the type of EDS, it may be inherited in a dominant or recessive way.
If the genetic trait is inherited in a dominant way, there’s a 50% chance that the gene will be passed from the parents to each of their children. If the gene is inherited in a recessive way, there’s only a 25% chance that it will be passed from the parents to each of the children.
There are a number of different types of Ehlers-Danlos syndrome, each characterized by different signs and symptoms. Some are more common than others, and they have different causes and risk factors.
Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common form of the condition and can cause loose, swaying joints. It also can lead to sagging skin, which is called elastosis.
This is because the connective tissue that supports the body is abnormal and can become overly flexible. It can tear easily, leading to joint dislocations and early-onset arthritis.
It can also cause prominent scarring because it doesn’t make enough collagen to repair itself properly. The skin of people with hEDS may bruise easily, and the tendons can become swollen and prone to breakage.
hEDS is a hereditary disorder that is more common in women than in men, but both sexes can be affected. If you have hEDS, you are at a higher risk of having other problems, including sleep disturbance, fatigue, and anxiety.
You may need to see a doctor who has experience with a connective tissue condition for an accurate diagnosis; often this will be a medical geneticist. If you are pregnant, talk to your doctor about the risks of having a baby with hEDS or another type of Ehlers-Danlos.
The most serious type of Ehlers-Danlos is vascular Ehlers-Danlos (vascular EDS). This type affects the blood vessels and can increase your risk of heart attack or stroke. It also can cause the walls of your intestines or the uterus to rupture.
Most vascular EDS cases are rare, occurring in 1 in 50,000 people or less. They result from a mutation in the gene COL3A1, which produces chains of type III procollagen, a key protein in the walls of blood vessels and hollow organs.
These mutations make the COL3A1 proteins weaker and more likely to rupture. They can also increase your risk of developing other problems, including diabetes and heart disease.
Your doctor can help you manage the symptoms of Ehlers-Danlos by educating you about your condition and showing you ways to exercise safely, prevent injury, and improve the quality of your life. They might also recommend physiotherapy or occupational therapy.
They can also help you learn about your rights and options, and get support and information from the Ehlers-Danlos Society. They can give you fact sheets and connect you with other patients and their families.
Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders that cause problems with the way your skin, joints, and blood vessels work. The condition affects about 1 in every 5,000 people worldwide. There are different types of EDS, each with its own set of symptoms and causes.
Hypermobile EDS, also known as hEDS, is the most common form of EDS. It accounts for about 90 percent of all cases and is thought to affect around 1 in every 3,100-5,000 people.
There are 13 named subtypes of EDS, with each type having its own specific features.
Each type of EDS is inherited in an autosomal dominant way, meaning that a child can only inherit the disorder if one or both parents have it. It is also possible for EDS to develop without a family history of the disease. This is called a de novo mutation, and it can be passed down to the next generation of children with the same genetic defect.
It is not uncommon for people with hEDS to have other medical problems, like fibromyalgia or chronic pain. These can be managed with a combination of physical therapy, medication, and lifestyle changes, but it is important to see a GP or consultant who can provide a holistic approach.
Your GP or consultant may ask about your symptoms and check whether there are any other conditions that could be causing them. You might also be asked to have a special test called electromyography or electroencephalogram. These tests can help to diagnose some of the more severe forms of EDS, such as vascular EDS.
