Ehlers Danlos Syndrome Overview

Although all forms of Ehlers-Danlos Syndrome share certain symptoms, such as muscle fatigue and stretchy skin, the six distinct types of EDS each present specific symptoms. Three of these types are extremely rare.

The most common forms of EDS are hypermobility, classical EDS and vascular EDS. Hypermobility, which affects 1 in 10,000 to 15,000 people, causes looseness in both large and small joints. Dislocations are common, and patients often experience pain in their joints and limbs [source: Mayo Clinic]. Classical EDS affects 1 in 20,000 to 40,000 people, and it's marked by skin hyperextensibility (stretchiness), scars and wounds that don't heal properly, fatty and noncancerous growths, and delicate skin tissue that is vulnerable to bruising [source: Mayo Clinic]. Vascular EDS has been reported in an estimated 1 in 250,000 people. This type is considered highly serious because of the risk of major organs or blood vessels rupturing. People with vascular EDS have very thin and fragile skin, which is often so translucent that veins can be seen through it [source: Mayo Clinic]. Easy bruising is common. High risk factors associated with vascular EDS often result in a life expectancy of about 50 years [source: Steiner].

The other three forms of EDS are rare, having been reported in fewer than 100 cases worldwide. Arthrochalasis, which is marked by congenital hip dislocation, has been seen in only about 30 cases [source: Mayo Clinic]. Patients with this type of EDS also experience early onset arthritis, increased bruising, stretchy skin and atrophic scarring, which marks the deterioration of tissue [source: Ehlers-Danlos National Foundation]. People with dermatosparaxis, which has been reported in a dozen cases around the world, have severely fragile skin with a soft, doughy texture. They, too, are highly susceptible to bruising, though the disorder does not inhibit wound healing as it does in other forms [source: Ehlers-Danlos National Foundation].

The least common form of EDS is kyphoscoliosis, which has been reported in only a few cases worldwide [source: Mayo Clinic]. Weak muscle tone and delayed motor development, often resulting in loss of movement during a person's 20s or 30s, are common in this EDS type [source: Ehlers-Danlos National Foundation]. With kyphoscoliosis, the spine becomes increasingly curved as the disease progresses, and the eyes, marked by small corneas, are easily damaged and ruptured.

Next, you will learn what impact these symptoms have on patients diagnosed with EDS.

Ehlers-Danlos Syndrome is a lifelong condition, but daily symptoms vary from patient to patient. Daily symptoms might be severe and debilitating, causing immobility and the risk of rupture, or they could be so minor that the disease goes undiagnosed [source: Davis]. Most EDS symptoms can be organized into two categories: skin-related symptoms and joint-related symptoms.

Skin-related symptoms largely relate to issues of sensitivity and fragility. Hyperextensibility, in which skin becomes overly stretchy like a rubber band, is one such symptom. The skin might also appear unusually velvety and soft, or it might be malleable and "doughy" [source: UW Medicine]. In other cases, specifically in vascular EDS, extremely fragile skin is almost translucent and is highly vulnerable to tearing. Whether the skin is stretchy or delicate, certain complications, such as increased bruising, abnormal scarring, cysts beneath the skin and premature aging, can arise [source: Mayo Clinic]. Wounds, particularly those that have been stitched, might also have difficulty healing because of the skin's condition. The most severe possible complication is when an artery or organ ruptures because the skin is too thin to provide adequate protection, which occurs in vascular EDS.

Joint-related symptoms largely affect a person's ability to move. Hypermobility, when a joint is overly loose, occurs in small and large joints -- from a toe to a shoulder -- and can cause many complications. Dangerous complications associated with hypermobility include susceptibility to dislocation, chronic joint pain, early onset arthritis and osteoporosis. In rare cases, hip dislocation and spine curvature can result from deteriorating bone tissue.

Though the symptoms of EDS might appear daunting, several treatments and measures exist to relieve patients' pain and difficulties. EDS in itself is not fatal, and most people diagnosed with it are able to live a relatively normal life because its symptoms are treatable.

Ehlers-Danlos Syndrome is a genetic condition, so no cure or remedy exists to reverse the disease or permanently eliminate its symptoms. However, effective means of dealing with EDS do exist. Doctors who treat patients with EDS focus on pain management and preventive care for symptoms that have not presented.

Daily pain management often uses a combination of pain relievers and physical therapy. A patient's physical therapy focuses on strengthening muscles, which in turn can strengthen the patient's joints. A doctor or physical therapist should prescribe a carefully planned workout routine because some exercises are detrimental to EDS patients. Any exercise that involves locking the joints, especially weightlifting, should be avoided, because these cause the joints additional stress and harm [source: Mayo Clinic].

Preventive care methods involve making a person's environment as safe as possible and learning how to protect joints from further damage. Even simple daily activities, such as reaching for cereal on a high shelf, can cause injury. Homes should be arranged to accommodate daily needs and protect the body from potential damage, such as falls. Special self-help devices, such as step stools, hair dryer stands and long-handled combs, can be used to prevent overstretching [source: UW Medicine].

Although these measures help alleviate pain and prevent injury on a day-to-day basis, patients with EDS should consult several types of doctors, including ophthalmologists, dentists and EDS specialists, to design a complete treatment plan. Genetic counselors are an important component of treatment for individuals with EDS. By analyzing the genetic structure of the problematic collagen, geneticists can understand more clearly which type of EDS a patient has. Identifying the EDS type enables doctors to design an effective treatment plan tailored to the individual. A genetic counselor explains the technical side of the geneticists' findings and serves as an information resource, answering questions and providing additional facts. Genetic counselors can also connect patients to support groups and can counsel families dealing with the disease [source: Knutel].

One primary service provided by genetic counselors is helping EDS patients and their partners understand and evaluate the risks of pregnancy. Read on for more information about pregnancy and EDS.

As with EDS symptoms, the risks associated with pregnancy in EDS patients vary greatly from case to case. Risks do exist, and most doctors will closely monitor any pregnant woman with Ehlers-Danlos Syndrome throughout her pregnancy. Doctors might advise some women against pregnancy if they believe the potential complications could prove fatal.

Complications that can arise during an EDS pregnancy include premature delivery and excessive bleeding during delivery. Also, if the baby inherits EDS, the membranes surrounding the baby might rupture, possibly causing extensive bleeding for the mother and danger for the child [source: Mayo Clinic]. Many EDS pregnancies result in miscarriage.

Vascular EDS presents the most potential problems for pregnancy. Because of the highly delicate state of the body, several complications can occur before and during birth. The uterus could hemorrhage or rupture before delivery, which can be fatal for the mother and would almost certainly require a hysterectomy immediately after the birth, if the mother survives. Delivery itself can be dangerous for the mother because patients with EDS have a difficult time healing. Having a C-section is especially risky, and vaginal tearing during labor can lead to more severe complications for the mother [source: Lawrence].

Doctors and geneticists typically advise women with EDS to determine genetic risk prior to becoming pregnant. This is a primary function of geneticists and genetic counselors treating people with EDS. Genetic tests help determine the risk of transmission of EDS to the fetus, which increases the number of possible complications during pregnancy [source: Lawrence]. Genetic counselors and other doctors can help explain and evaluate the risks of pregnancy.

Although the odds might seem against women with EDS giving birth without complications, each case is different. EDS patients should discuss their specific conditions and symptoms with the appropriate doctors and counselors in order to determine the best treatments and pregnancy plans for them. With pregnancy, as with all facets of Ehlers-Danlos Syndrome, the more specific the information a person has, the better prepared he or she is to live -- and enjoy -- daily life.

For more information, visit the links on the next page.