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Ehlers-Danlos Syndrome (EDS)

The diagnosis of Ehlers-Danlos Syndrome (EDS) is typically made based on a combination of clinical examination and genetic testing. There are several types of EDS, each with its own set of diagnostic criteria.

Clinical examination typically involves a thorough evaluation of a patient's medical history, physical examination, and family history. Patients with EDS may have hypermobile joints, skin that is easily bruised and hyper-elastic, and a tendency to develop scars that are wider than normal.

Genetic testing may also be used to diagnose EDS. There are currently 13 known types of EDS, each caused by a different genetic mutation. DNA testing can identify the specific gene mutation associated with a particular type of EDS.

It is important to note that EDS is a rare condition, and its diagnosis should be made by a qualified medical professional with experience in diagnosing and treating EDS. If you suspect you or a loved one may have EDS, it is important to seek medical attention and undergo appropriate testing.

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 several 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 dominantly, 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 several 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.