What is Ehlers-Danlos Syndrome?

Patients with Ehlers-Danlos syndrome (EDS) have multiple conditions that can impact tissues, organs, blood vessels, bones and/or skin, according to MedlinePlus. EDS is caused by gene mutations in the body’s connective tissues. At least 20 genes can have mutations that can cause the syndrome.

There are 13 types of EDS. The most common types are the hypermobile and classical types, while other types are extremely rare. At least 1 in 5,000 people around the world have EDS.

Symptoms

Some patients with EDS only have mild symptoms, such as loose joints or joint pain. However, for other patients, the syndrome may threaten their life. Symptoms depend on the type of EDS you have.

Many patients with EDS have the hypermobile type, which can cause:

• Hypermobility in their joints, meaning they have an unusually large range of movement in their joints, which can lead to joint pain, dislocations and frequent sprains
• Hypotonia, which is weak muscle tone

The classical type of EDS causes patients to have soft, stretchy, fragile skin that may wrinkle. This can cause patients to easily bruise or have wounds split open with minimal bleeding, leading to scars.

Some patients have the vascular type of EDS. Tearing of organs and blood vessels causes this condition. Patients with the vascular type may be more likely to experience:

• Stroke
• An intestinal perforation, which is a hole in the intestinal wall
• Internal bleeding
• Easy bruising
• Uterus rupture if they are pregnant

Some patients have the cardiac-valvular type of EDS. These patients may have defective heart valves, which control how blood moves throughout the heart and body.

Some extremely rare types of EDS include:

• The kyphoscoliotic type, which causes scoliosis (a curved spine) that can restrict lung expansion and make breathing difficult
• Brittle cornea syndrome, which causes the cornea in the eyes to be thin and can cause other defects in the eye
• The spondylodysplastic type, which typically causes patients to be short and have limbs that are curved
• The musculocontractural and myopathic types, which can cause hypotonia and joints that are permanently bent
• The periodontal type, which creates defects in the gums and teeth

Diagnosis

If you feel you could have EDS, it is important to see a medical provider. Your provider will ask you about your medical history. Your provider may also order tissue samples from the lab or conduct a biopsy to check for abnormal tissue structure.

If your skin is affected, your provider may measure how hyperextended your skin is by carefully pulling it up until it can no longer be stretched. If your joints are affected, your provider may conduct tests to determine the level of hypermobility in the joints.

If you might have the vascular or cardiac-valvular type of EDS, your provider may order you to have a computed tomography (CT) scan, an MRI and/or an echocardiogram to check for defects in blood vessels, organs, or valves or the aorta in the heart.

If you might have the kyphoscoliotic type of EDS, your provider may order an X-ray to determine how curved your spine is and if you have reduced bone mass.

In many cases, EDS is inherited from at least one parent who may have the syndrome or who may be a carrier of mutated genes that can cause the syndrome. Genetic testing may help diagnose the condition. Other patients are found to have no family history of EDS.

Treatment and Prevention of Symptoms

Treatment and symptom prevention depends on the type of EDS you have. For example, patients with the classical type causing skin problems need to take special care if they get wounds and bruising. If you have this type, your provider may recommend you take vitamin C to help reduce bruising.

If you have the hypermobile type of EDS, you may need to avoid contact sports or heavy lifting to prevent joint dislocation. You may also benefit from:

• Engaging in low-resistance exercise, such as elliptical training, rowing, cycling, swimming, barre, pilates, yoga or tai chi
• Using resistance bands instead of free weights to build strength
• Participating in physical therapy to learn exercises to improve muscle strength and joint stability to decrease pain and prevent future injuries
• Using assistive devices, such as braces or adaptive equipment

If you have the vascular or cardiac-valvular type of EDS, it is important to frequently monitor your blood pressure and have regular appointments with a cardiologist. If you have the vascular type and you become pregnant, you will need to see a provider that deals with high-risk pregnancies.

If you are experiencing pain due to your EDS, your provider will recommend the best ways to manage pain. If your bones are less dense due to your EDS, your provider may recommend you take vitamin D and calcium to increase your bone density, and you may also need to do regular bone density scans.

If you have brittle cornea syndrome, you will need regular eye exams.

UofL Health is Here for You

If you may have EDS, visit UofL Physicians – Primary Care or call 502-588-4343 to find a primary care provider near you. Our Primary Care offices accept many types of health insurance and have self-pay options.

If you are diagnosed with EDS, UofL Health has different services that can help you navigate the condition depending on the type you have and your symptoms.

• UofL Health – Frazier Rehabilitation Institute is the regional leader in physical rehabilitation with 18 outpatient locations and a longstanding tradition of delivering exceptional care to help patients return to their highest level of function. For more information or to schedule an appointment, call 502-681-1682.
• If you are suffering from extreme joint pain, UofL Health – Orthopedics may be the key to helping you get back in the game of life faster. Our providers are the go-to experts for advanced tailored treatment plans with less recovery time. See our list of Orthopedics locations to find one close to you.
• At UofL Health – Wound Care, healing wounds is our specialty, and we have three area locations with specialists dedicated to this treatment: UofL Health – Jewish Hospital, UofL Health – Mary & Elizabeth Hospital and UofL Health – Shelbyville Hospital. Most patients can be scheduled within 48 hours.
• UofL Physicians – Vascular Surgery and UofL Physicians – Vascular Surgery Associates have the top surgeons in the region providing comprehensive, state-of-the-art care for vascular emergencies. Call 502-587-4327 to schedule an appointment today.
• UofL Health is committed to the prevention of disease and the care of your heart. UofL Health – Heart Hospital is the only area hospital dedicated to comprehensive heart care. To learn more, call 502-587-4000.
• The UofL Health – Comprehensive Spine Center, part of the UofL Health – Brain & Spine Institute, has a team of neurosurgeons and spine experts who are prepared to assist you in managing spinal conditions. To make an appointment or to learn more, please call 502-588-2160.
• Call the UofL Health – Eye Institute at 502-588-0550 if you have eye or vision issues.
• UofL Physicians – Maternal-Fetal Medicine, part of UofL Physicians – OB/GYN & Women’s Health, is here to support you and your baby before, during and after pregnancy. Call 502-588-4400 to schedule an appointment.