Escaping from Ehlers-Danlos Syndrome

You have always had weak joints. You have had unexplained headaches and your legs give out from constant pain plus nauseousness. You get nervous because you fear dislocating your bones. You could have Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is a disease that affects the connective tissues, making skin unusually stretchy, joints loose and, in its worst form, internal organs prone to rupture. The condition is a collection of genetic disorders that affect collagen, a protein that adds strength and elasticity to connective tissue. Patients often experience a downward pull of the spinal cord, which causes Chiari malformation. That’s when the cerebellum, which controls balance, and the brainstem push downward. The pressure creates a range of problems, including headaches and balance issues.

Ehlers-Danlos syndrome is considered a rare condition. There are 13 types of the disease. The prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. It is named after two doctors, Ehlers, who was Danish, and Danlos, who was French, who identified the syndrome in the early 1900s.

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed down from parent to child. A parent has a 50 percent chance of passing the genetic mutation on to each child.

The disease comes in several forms, which can affect joints, skin and internal organs. In the classical form, patients have stretchy skin they may be able to pull several inches away from the body. Others may be able to twist themselves like contortionists. Still others have skin that splits open after a minor bump and doesn’t hold sutures well.

Then there is the hypermobility form. Hypermobile or loose joints that can cause frequent dislocations or double-jointedness. Fragile skin that tears and bruises easily, but heals slowly and leaves dramatic scars. Musculoskeletal pain at an early age. Thin, translucent skin. Chronic fatigue. Internal organ ruptures which can be life-threatening.

Complications that can occur with the disease are early onset arthritis, chronic joint pain, rupture of vessels and hollow organs and surgical wounds that won’t close. Some patients even have to use wheelchairs or braces to stabilize their bones. And some people with Ehlers-Danlos syndrome can dislocate joints by doing something simple like reaching for a glass in a kitchen cabinet.

According to the Cleveland Clinic, physicians diagnose Ehlers-Danlos syndrome by genetic testing, biopsy (uses a sample of skin and looks under a microscope for specific genes or genetic mutations), physical exam and imaging tests (this may include X-rays and computerized tomography scans).

Treatment for Ehlers-Danlos syndrome aims to prevent dangerous complications as well as help protect joints, skin and other tissues from injury. A patient’s treatment depends several factors including the type of the disorder and symptoms.

Sunscreen and mild soaps can help protect the skin. Taking extra vitamin C can reduce bruising. Physical therapy can help prevent joint injury.

There is no cure and it is notoriously difficult to diagnose. Symptoms must be treated as they appear. And because blood vessels are fragile, doctors will monitor people with Ehlers-Danlos syndrome and prescribe medication to keep blood pressure low and stable.

Since dislocated joints and other joint injuries are common in people with Ehlers-Danlos syndrome, doctors recommend that they avoid strenuous (heavy) lifting, high impact exercise where the body pounds the ground and contact sports.

Don’t forget to build a support system of those that care and are knowledgeable about this condition. It starts with you—increase your knowledge regarding Ehlers-Danlos syndrome and educate others about your condition.