About Classical Ehlers-Danlos syndrome
What is Classical Ehlers-Danlos syndrome?
Classical Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder that affects the skin, joints, and blood vessels. It is caused by a defect in the production of collagen, a protein that provides strength and elasticity to the skin, joints, and other tissues. People with classical EDS have fragile skin that bruises easily, joint hypermobility, and an increased risk of joint dislocations. They may also have problems with the cardiovascular system, including an increased risk of arterial rupture.
What are the symptoms of Classical Ehlers-Danlos syndrome?
The symptoms of Classical Ehlers-Danlos syndrome (EDS) include:
-Joint hypermobility
-Joint dislocations and subluxations
-Soft, velvety skin
-Fragile skin that bruises easily
-Stretchy skin
-Easy scarring
-Delayed wound healing
-Sagging facial features
-Chronic musculoskeletal pain
-Chronic fatigue
-Dental problems
-Scoliosis
-Cardiovascular complications
-Gastrointestinal complications
What are the causes of Classical Ehlers-Danlos syndrome?
Classical Ehlers-Danlos syndrome is caused by mutations in the COL5A1 or COL5A2 genes, which are responsible for producing the proteins that make up the body's connective tissue. These mutations can be inherited from a parent or can occur spontaneously.
What are the treatments for Classical Ehlers-Danlos syndrome?
The treatments for Classical Ehlers-Danlos syndrome (EDS) vary depending on the individual and the severity of their symptoms. Generally, treatments focus on managing the symptoms and preventing further complications. These may include physical therapy, occupational therapy, braces or splints, medications to reduce pain and inflammation, and surgery to correct joint dislocations or other deformities. Other treatments may include lifestyle modifications such as avoiding activities that put strain on the joints, eating a healthy diet, and getting enough rest.
What are the risk factors for Classical Ehlers-Danlos syndrome?
1. Genetic mutation: Classical Ehlers-Danlos syndrome is caused by a mutation in the COL5A1 or COL5A2 gene.
2. Family history: People with a family history of Classical Ehlers-Danlos syndrome are at an increased risk of developing the condition.
3. Age: Classical Ehlers-Danlos syndrome is more common in adults than in children.
4. Gender: Women are more likely to be affected by Classical Ehlers-Danlos syndrome than men.
Is there a cure/medications for Classical Ehlers-Danlos syndrome?
There is no cure for Classical Ehlers-Danlos syndrome, but there are medications and treatments that can help manage the symptoms. These include physical therapy, pain medications, and bracing or splinting to support weakened joints. Surgery may also be recommended in some cases to help stabilize joints or correct deformities.