What is Ehler Danlos syndrome? What are the symptoms? Ehler Danlos syndrome (EDS) has not yet been named a disease. It can be considered an inherited disorder. Ehler Danlos syndrome, which is an autosomal dominant gene disorder caused by a mutation in the COL5A1, COL5A2 and COL3A1 gene locations, is a condition involving soft tissues in the body.
If we characterize Ehler Danlos syndrome as a disease and explain it more clearly and understandably, we can say that this condition is an autosomal dominant and recessive disease. This means that the skin is much softer and more elastic than normal.
Depending on the skin appearance, Ehler Danlos syndrome is characterized by a thin and rather flimsy and thin appearance. The fact that the skin also looks wet and scrawny is a visible symptom of this disease at first glance.
This disease is the formation of sponge-shaped tumors in the lower layer of the skin, which have a blue or gray-like color.
Where is Ehler Danlos Syndrome seen?
In which areas does Ehler Danlos syndrome occur? If we characterize this syndrome as a disease or damage, in which areas of the skin is this damage most common? We can make a much clearer and clearer definition by giving some information on the subject. The most common areas of this disease are the legs, chin area, eyelids and forehead.
The protrusion of adipose tissue on the soles of the feet also covers a situation that is in question for this disease. The protrusion of the fatty tissue on the soles of the feet means that an extremely intense and severe pain occurs in this area.
This condition is generally a congenital condition with gene transmission. In other words, the mother or father of a person with this disease has Ehler Danlos syndrome.
What are the Symptoms of Ehler Danlos Syndrome?
What are the symptoms of Ehler Danlos syndrome? What conditions do people with this disease face? How to recognize Ehler Danlos? If you say, it is useful to take a look at the symptoms we have itemized below.
- There is excessive hypermobility of the joints, i.e. a mobility that occurs very frequently
- Too much softness in the skin, the skin is so elastic that it will stretch when pulled.
- The skin becomes extremely easily vulnerable to damage
- Digestive, orthopedic, cardiovascular and eye complications
- Formation of structures called false tumors under the skin
Ehler Danlos syndrome has symptoms in many different areas. However, the symptoms listed above are only the main symptoms of this disease.
If we think about how to recognize Ehler Danlos syndrome at first sight, we can say that the elastic structure we mentioned on the skin surface of people with this disease also has a wet appearance.
At this point, we can also mention that the skin of a person with Ehler Danlos syndrome can get wounded very easily and bleeding will also be very easy. In addition to the extremely easy occurrence of damage or wounds on the skin of Ehler Danlos syndrome patients, these wounds or damage will be very difficult to heal. If we explain the reason for this, the edges of a wound that has occurred on the skin of a normal person should heal by merging after a short time. But in this disease, the edges of the wound cannot come together and heal. Even if it heals, this happens over a long period of time in line with a number of medical interventions.
For this disease, wounds do not heal or wounds, bruises or various damages heal over a very long period of time, and we can also talk about healing problems in gum problems in this disease.
People with Ehler Danlos syndrome have wrinkled skin. This wrinkling has nothing to do with aging. In other words, Ehler Danlos patients have a much older appearance than their normal age.
The symptoms of Ehler Danlos syndrome include not only the appearance or skin condition, but also problems with the internal organs. Problems with vital organs such as the heart, stomach, intestines and lungs are directly caused by this disease.
Diverticula and prolapse in the intestines, complications in the lungs and heart failure are among the symptoms of this disease.
It is very likely that people with Ehler Danlos syndrome also have cystic structures in the kidneys.
Ehler Danlos Syndrome in Pregnancy
Ehler Danlos syndrome in pregnancy usually results in undesirable conditions such as miscarriage or premature birth.
What is Ehler Danlos Syndrome?
The question of what Ehler Danlos syndrome deficiency is among the most curious things about this disease. In Ehler Danlos syndrome, collagen synthesis will be impaired. In this type of condition, a number of disorders occur in connective tissue. Depending on this situation, there is insufficient development in blood vessels and joints. The result is Ehler Danlos syndrome.
Although we have answered the question of what causes Ehler Danlos syndrome in this way, it should also be noted at this point that this disease is directly related to genetic factors.
Ehler Danlos Test
The Ehler Danlos test is the necessary test to diagnose this disease. This test is based on a skin biopsy, genetic examination and a number of imaging procedures in order to make a definitive and clear diagnosis after a medical examination. The types of Ehler Danlos are also very distinctive at this point.
As a result of an examination for the diagnosis of Ehler Danlos, the same or similar findings are generally found. However, there may also be some differences in some of the findings or symptoms among these findings. This is a factor that shows that Ehler Danlos syndrome is a disorder that can be examined in more than one subtype.
Ehler Danlos Treatment
Unfortunately, there is no cure for Ehler Danlos. However, it will be possible to talk about a number of methods to relieve the symptoms of this disease.
Physical therapy methods and medication can be applied for Ehler Danlos syndrome. However, these medications are not a definitive cure for Ehler Danlos syndrome. They are only a set of medications that help the person struggling against this disease to continue their life in a more comfortable way. Medications used in combination with exercises will be more beneficial.