Arthrochalasia Ehlers-Danlos syndrome

Arthrochalasia EDS (aEDS) is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene. These genes provide instructions for making a component of type I collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type I collagen, specifically, is the most abundant form of collagen in the human body. Mutations in COL1A1 or COL1A2 lead to structural abnormalities in type I collagen molecules. This weakens tissues that are rich in type I collagen, such as the skin, bones, and tendons and causes the many signs and symptoms associated with aEDS.

A diagnosis of arthrochalasia EDS is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in COL1A1 or COL1A2 can then be ordered to confirm the diagnosis.

Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber- like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with aEDS have abnormalities in type I collagen.

Arthrochalasia EDS is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with EDS, arthrochalasia type has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

The treatment of arthrochalasia Ehlers-Danlos syndrome (aEDS) is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with severe hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces, wheelchairs, or scooters may be necessary depending on the severity of joint instability. Congenital hip dislocation and kyphoscoliosis (kyphosis and scoliosis) may require surgery. Because aEDS is associated with fragile skin, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead.

Please speak to your healthcare provider if you have any questions about your personal medical management plan.