Ehlers-Danlos Syndrome

Overview

Those who inherit Ehlers-Danlos syndrome experience a variety of symptoms that are closely related to one another. The condition, which is passed down from a parent to a child, affects the collagen in the body, which is responsible for strengthening organs, skin and bones. Since each case of Ehlers-Danlos syndrome, or EDS, is different, patients are treated for the manifestations of the mutated gene they experience.

Causes

EDS is a hereditary genetic mutation of collagen genes. Collagen, a protein found within the body, is essential for elasticity and works to strengthen the entire body, from cartilage to suppleness of the skin. If you should have the mutation, there is a 50-percent chance the syndrome will be passed down to each child.

Symptoms

Depending on the mutation type, symptoms can vary from person to person. Here are two of the most common forms, followed by the appropriate symptoms:

Classical EDS

• Extremely elastic skin
• Loosened joints
• Slowed wound care and healing, leads to scarring
• Plentiful skin folding
• Muscle pain and fatigue
• Non-cancerous growths on the body; fatty and fibrous

Hypermobility

• Degenerative joint disease – chronic
• Early onset of osteoarthritis
• Muscle pain and fatigue
• Bruise easily
• Joints prone to dislocation

Diagnosis

Since EDS is a hereditary mutation, your doctor will need to know all of your family’s medical history to conclude a diagnosis. A physical examination of the skin and joints will also help your physician determine the type of EDS you have. Additional tests include:

• Echocardiogram – Some EDS cases affect the internal organs, so an ultrasound of the heart will allow your physician to determine if the muscle or valves are working properly
• Skin biopsy – Abnormal levels of collagen in the skin can be determined through an analysis of a small tissue sample
• Genetic testing – DNA tests can confirm the mutation, and prenatal DNA tests can determine if an embryo is carrying the mutation

Treatment

Treatments are used to manage various symptoms and prevent complications, as there is no cure for EDS. Two treatment options include:

• Medication – Topical anesthetic or nonsteroidal anti-inflammatory (NSAID) to help with muscle or joint pain and discomfort
• Physical therapy – Used to tone and strengthen muscles to prevent muscle pain and increase strength of the joints

Surgery

Surgery is a viable option if joints are in need of repair, though recovery may take longer due to EDS complications. If such a treatment is necessary, surgical glue or tape is often used in place of stitches, as delicate skin can be torn.