Diseases & Conditions (A-Z)



























Ehlers–Danlos syndromes

Ehlers–Danlos syndromes are a group of genetic connective tissue disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls.  These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. 
Types of Ehlers–Danlos syndromes 
Recently, 13 major types of Ehlers-Danlos syndrome have been subtyped. These include: 
➲Classic, classic-like 
cardiac-valvular, Vascular  
Brittle cornea 
Each type of EDS affects different areas of the body. However, all types of EDS have one thing in common: hypermobility. Hypermobility is an unusually large range of movement in the joints. 


Each type of Ehlers-Danlos syndrome has its own symptoms. Signs and symptoms of the most common form of Ehlers-Danlos syndrome include: 
Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common. 
Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety. 
Fragile skin. Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly. 
Symptom severity can vary from person to person. Some people with Ehlers-Danlos syndrome will have overly flexible joints, but few or none of the skin symptoms. 


A defect in collagen causes Ehlers-Danlos syndrome. Collagen is proteins that add flexibility and strength to connective tissuePeople with the disorder have a faulty gene that leads to weak collagen or not enough normal collagen in their tissues. These defects can harm the connective tissue’s ability to support muscles, organs, and other tissues. 


Complications depend on the types of signs and symptoms you have. Complications may incude: 
Overly flexible joints can result in joint dislocations and early-onset arthritis.  
Fragile skin may develop prominent scarring. 
People who have Ehlers-Danlos syndrome, vascular type, are at risk of often fatal ruptures of major blood vessels.  
Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase these risks. 


If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor  to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children. 


Physical examination 
Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis.  
Blood Tests 
Genetic tests on a sample of your blood can confirm the diagnosis in some cases and help rule out other problems. 
Tests that provide images of the inside of the body can help doctors identify abnormalities including heart function problems and curved bones. These tests include X-rays and computerized tomography (CT) scans. 
In some cases, a doctor will use a test called a biopsy. In this test, the doctor removes a sample of skin and examines it under a microscope to look for signs of the condition, such as specific genes and gene mutations. 


Treatment for Ehlers-Danlos syndrome aims to prevent dangerous complications. 

Your doctor may prescribe drugs to help you control: 
Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries. 
Blood pressure. Because blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low. 
To protect the skin, doctors recommend using sunscreen and mild soaps. Taking extra Vitamin C can help reduce bruising.  

Physical therapy 
Physical therapy and exercises to strengthen the muscles supporting the joints can help prevent joint injuries. Braces also help stabilize joints. 

Surgical procedures 
Surgery may be recommended to repair joints damaged by repeated dislocations. However, your skin and the connective tissue of the affected joint may not heal properly after the surgery. 
Surgery may be necessary to repair ruptured blood vessels or organs in people with Ehlers-Danlos syndrome, vascular type. 

Lifestyle and home remedies 
If you have Ehlers-Danlos syndrome, it's important to prevent injuries. Here are a few things you can do to safeguard yourself. 
Choose sports wisely. Walking, swimming, tai chi, recreational biking, using an elliptical machine or a stationary bike are all good choices. Avoid contact sports, weightlifting and other activities that increase your risk of injury. Minimize stress on your hips, knees and ankles. 
Rest your jaw. To protect your jaw joint, avoid chewing gum, hard rolls and ice. Take breaks during dental work to close your mouth. 
Avoid certain musical instruments. To prevent a collapsed lung, avoid playing reeded wind or brass instruments. A violin, viola or piano would be safer options and would take advantage of the increased flexibility of your hands. 

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