Ehlers-Danlos syndrome (EDS) is a genetic illness that affects the connective tissues of the body. The skin, blood vessels, bones, and organs are all supported and structured by connective tissue, also known as elastin. It is made up of cells, fibrous material, and a protein known as collagen, among other things. An inherited collection of genetic abnormalities is responsible for Ehlers-Danlos syndrome, characterized by a reduction in collagen production.
What are the causes of EDS?
A deficiency causes Ehlers-Danlos syndrome in collagen (proteins that contribute to the flexibility and strength of connective tissue). It is caused by a malfunctioning gene that results in weak collagen or a lack of normal collagen in the tissues of those who have the illness. These flaws can impair the connective tissue’s capacity to support muscles, organs, and other tissues, leading to a variety of complications.
The majority of the time, EDS is an inherited disorder. The majority of instances are not passed down through families. This implies that they are the result of spontaneous gene mutations. Defects in the genes impair the creation of collagen and the process by which it is formed.
Ehlers-Danlos syndrome is a hereditary ailment, which indicates that one or more genetic defects are responsible for the manifestations of the disease.
Some kinds of Ehlers-Danlos syndrome are hereditary, which means that a parent may pass on the faulty gene to their offspring. The type of Ehlers-Danlos syndrome that the child has will be the same as that of their parent.
The likelihood of an affected parent passing on the mutation to their kid is either 25 percent or 50 percent, depending on whether the mutation is inherited by dominant or recessive gene inheritance, respectively. The subtypes of EDS are descended from various parents in distinct ways.
In rare instances, the aberrant gene may not have been passed down from either of the parents. Genetic mutations in the egg or sperm that are not passed down from parent to child are one possible cause of this condition.
Mutations cause Ehlers-Danlos syndrome in at least 19 genes, and it can be passed down via families.
All of the genes listed below, except ADAMTS2, contain instructions on how to build collagen fibers. This gene provides instructions for generating the proteins that interact with collagen in a cell culture environment. While not a comprehensive list, the genes that can cause EDS to include the following:
- ADAMTS2
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL6A2
- PLOD1
- TNXB
EDS Types
Ehlers-Danlos syndrome has recently been subdivided into 13 primary kinds, each of which has its own subtype. These are some examples:
- Classic
- Classic-like
- Cardiac-valvular
- Vascular
- Hypermobile
- Arthrochalasia
- Dermatosparaxis
- Kyphoscoliotic
- Brittle cornea
- Spondylodysplastic
- Musculocontractural
- Myopathic
- Periodontal
Each form of EDS has a varied effect on different parts of the body. On the other hand, all kinds of EDS have one thing in common: they are all hypermobile. Hypermobility is characterized by an abnormally wide range of movement in the joints.
According to the Genetics Home Reference at the National Library of Medicine, EDS affects one in every 5,000 persons worldwide. The most frequent varieties of Ehlers-Danlos syndrome are hypermobility and classic versions of the condition. The other types are pretty rare. For example, only about 12 children in the globe are affected by dermatosparaxis.
What exactly are the signs and symptoms of EDS?
Parental carriers of the faulty genes that cause EDS are occasionally found to be present. This means that the parents may not be experiencing any signs or symptoms of the disease. They are also completely unaware that they are bearers of a faulty gene. In other cases, the gene that is causing the symptoms is dominant and can induce symptoms.
Signs and symptoms of EDS depend upon its type 3 significant types of symptoms are given below:
1. Symptoms of classical EDS
- Sloppy joint mechanics
- Extremely elastic and silky skin
- Fragile skin
- Sensitive skin that bruises easily
- Skin folds around the eyes
- Muscle aches and pains
- Muscular fatigue
- Noncancerous growths on pressure points such as the elbows and knees
- Issues with the heart valves
2. Symptoms of EDS with hypermobility (hEDS)
- Sloppy joint mechanics
- Bruising
- Muscle aches and pains
- Muscular fatigue
- Degenerative joint illness that has been around for a long time
- Osteoarthritis in its early stages
- Long-term discomfort
- Heart valve issues
3. Symptoms of vascular EDS
- Fragile blood vessels
- Thin skin
- Transparent skin (sometimes)
- A narrow bridge of the nose
- Protruding eyes
- Thin lips
- Hollowed-out cheeks
- A chin that is too tiny
- Collapsed lungs
- Issues with the heart valves
What is the procedure for diagnosing EDS?
Doctors may employ a range of tests to diagnose EDS (except in the case of hEDS) or rule out other illnesses similar to EDS. Genetic tests, skin biopsies, and echocardiograms are among the procedures available. In an echocardiogram, sound waves create images of the heart that move in real-time. This will allow the doctor to determine whether or not there are any abnormalities present.
A blood sample is taken from your body (arm usually) and analyzed for genetic alterations in specific gene sequences. An excisional biopsy of the skin is performed to examine for symptoms of aberrant collagen synthesis. Typically, a tiny sample of skin is removed and examined under a microscope for abnormalities.
A DNA test can also be used to determine whether or not a faulty gene is present in an embryo.
What is the treatment for EDS?
The following are currently available therapy options for EDS:
- Physical therapy is the best option (used to rehabilitate those with joint and muscle instability)
- Joint replacement surgery to restore damaged joints
- Analgesics to alleviate discomfort
Additional treatment options may be available based on the level of pain you are feeling and whether or not you are suffering any other symptoms.
Prevention
- Stay away from contact sports.
- Stay away from heavy lifting.
- Use sunscreen to keep your skin protected.
- Avoid using harsh soaps that may cause the skin to become too dry or trigger allergic responses.
- Make use of assistive equipment to reduce the amount of pressure on your joints.
Also, if your child has EDS, you should take the following precautions to keep them safe and safeguard their joints. In addition, make sure your child has appropriate padding before allowing them to ride a bike or walk for the first time.
Complications that could arise with EDS
The following are examples of EDS complications:
- Joint soreness that lasts a long time
- Dislocation of a joint
- Arthritis with early-onset
- Slow wound healing resulting in visible scarring.
- Surgical wounds that are proving difficult to heal
Outlook
It is critical to see your doctor if you feel you have EDS based on the symptoms you are experiencing. They will be able to identify you with a few simple tests or rule out other disorders similar to yours.
Upon receiving a diagnosis of the problem, your doctor will collaborate with you to establish a treatment strategy. Additionally, there are several safety measures you can take to avoid becoming injured.
