If left untreated, vascular Ehlers-Danlos syndrome can be lethal/fatal, especially in Vascular Ehlers-Danlos syndrome.
Vascular Ehlers-Danlos syndrome can cause the aorta (the heart’s main artery) to become weak along with other major arteries that supply blood to other parts of the body. A rupture of any of these more major blood arteries has the potential to be life-threatening. This kind of angioedema can also cause weakening of the walls of the uterus and enlarge intestine.
Symptoms of fatal EDS include the following:
Even though there are many different forms of Ehlers-Danlos syndrome, the most deadliest signs and symptoms are as follows:
- Joints that are too flexible: Because the connective tissue that keeps joints together has become looser, your joints have the ability to move well beyond their typical range of movement. It is usual to experience joint pain and dislocations.
- Skin that is stretched out: Because of the weakened connective tissue, your skin can stretch considerably further than it usually would. You may pull a pinch of skin away from your flesh with your fingers, but once you let go, the skin will snap immediately back into place. You may also see that your skin is exceptionally soft and velvety.
- Fragile skin: It is not always possible to repair injured skin due to excessive fragility. The stitches used to close a wound, for example, will commonly come undone, leaving a gaping wound scar for the whole life. These scars may appear thin and crinkly at first glance.
The severity of Ehlers-Danlos syndrome symptoms varies from person to person and is determined by the type of Ehlers-Danlos syndrome that you have. The most prevalent variety is known as hypermobile Ehlers-Danlos syndrome, and it affects the joints.
Diagnosis
Your doctor will almost certainly begin with a physical examination:
- The length of time you can bend your knees, elbows, fingers, and waist will be measured. Is it possible for your thumb to touch your forearm? Is it possible to bend your pinkie further than 90 degrees?
- They’ll pull at your skin to examine how far it stretches, and they’ll search for any scars that the sickness may have left.
- They will question your medical history and whether you or anybody in your family has ever experienced symptoms similar to these in the past.
- Depending on whether or not your doctor suspects you may have problems with your heart or blood arteries, your examination may involve an echocardiogram, which utilizes sound waves to create an image of your heart.
- You may also be subjected to additional imaging testing. For example, a computed tomography (CT) scan, which captures X-rays from various angles and stitches them together to form a more complete picture, can be requested by the doctor. Alternatively, they may request a magnetic resonance imaging (MRI) scan. This technique creates a detailed image by utilizing powerful magnets and radio waves.
- Your EDS doctor may also do a biopsy on you. In order to do so, they will take a small sample of skin and examine it under a microscope for symptoms of aberrant collagen. They may also do chemical testing on the sample in an attempt to determine which sort of EDS you may be suffering from. Other types of tests can be used to determine which genes are responsible for the condition.
Prognosis for EDS
Long-term prognosis and outlook for patients with Ehlers-Danlos syndromes (EDS) differ depending on which subtype they have. The vascular variety of EDS is often the most severe and is commonly connected with a shorter lifespan than other types of EDS. Those who suffer from vascular EDS have a median life expectancy of 48 years, and many will experience a significant episode before the age of 40. The lifetime of persons who have the kyphoscoliosis form is also reduced, mainly as a result of the involvement of the vascular system and the possibility of developing restrictive lung disease.
In most cases, other kinds of EDS are not as deadly and can be associated with average lifespans in some cases. People who are exaggerated by this condition can often lead healthy lives with some limitations.
Causes
There are several different kinds of Ehlers-Danlos syndrome, each of which is connected with a different genetic etiology, some of which is inherited and passed down from parent to kid. There is a 50 percent probability of passing on the gene to each of your offspring if you have the most prevalent form, hypermobile Ehlers-Danlos syndrome, which affects the joints.
Treatment
Once your doctor has determined the type of EDS you have, you can discuss the best way to treat your symptoms. You may need to see various kinds of doctors, including:
- An orthopedist specializes in the treatment of joint and skeletal issues.
- A dermatologist is a person who specializes in the treatment of skin diseases.
- A rheumatologist who specializes in disorders that affect the connective tissues of the body.
Some of the therapy options are as follows:
- Strengthening and coordinating muscles through physical therapy and exercise You may be less prone to dislocate a joint if your muscles are more robust. Walking, low-impact aerobics, swimming, and bicycling are all excellent options for getting some exercise. When it comes to children with EDS, physical treatment is very critical.
- If you need assistance getting around, you can use braces or other assistive devices such as a wheelchair or scooter.
- Calcium and vitamin D pills, which can aid in the strengthening of your bones.
- Over-the-counter medications to alleviate joint discomfort. If none of these options are productive, you may require prescription medicine.
- Pregnant women who have EDS may require additional attention due to the possibility of pain difficulties during pregnancy.
Complications
The type of complications you have is determined by the indications and symptoms you are experiencing. Joint dislocations and early-onset arthritis, for example, might occur as a result of excessively flexible joints. Scarring that is visible on fragile skin is possible.
People who have vascular Ehlers-Danlos syndrome are at risk of significant blood vessel ruptures, which can be deadly in some cases. Some organs, such as the uterus and the intestines, may also burst as a result of this. Late pregnancy can increase the likelihood of a uterine rupture occurs.
Prevention
In the case of Ehlers-Danlos syndrome, if you have a personal or family history of the condition and are considering establishing a family, you may benefit from speaking with a genetic counselor, who is a health care specialist who is qualified to assess the risk of hereditary disorders. Genetic counseling can assist you in understanding the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the hazards it poses to your children if you have it.
Conclusion:
Ehlers-Danlos syndrome (EDS) is a fatal genetic disorder that causes the connective tissues in your body to become weak. EDS can cause your joints to become floppy, as well as your skin to become thin and easily damaged. It can also harm blood vessels and organs.
Even though there is no cure for EDS, the symptoms can frequently be treated and managed.
