Description

The Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily the skin, joints and blood vessel walls. The connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin is often not strong enough to hold.

A more severe form of the disease called vascular Ehlers-Danlos syndrome, down syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome, down syndrome can have serious possible complications in the pregnancy, you may want to talk with a genetic counselor before starting a family.

Symptoms

There are many different types of Ehlers-Danlos syndrome, down syndrome, but the most common signs and symptoms include:

  • Overly flexible joints. Because the connective tissue that holds joints together is more loose, your joints can move beyond the normal range of motion. Pain in the joints and dislocations are common.
  • Elastic skin. Weakened connective tissue allows your skin to stretch more than usual. You may be able to pull of a pinch of skin away from his flesh, but it will snap right back into place when you let go. Your skin may also feel exceptionally soft and velvety.
  • The fragile skin. The damaged skin often does not heal well. For example, the points of suture to close a wound often break and leave a huge scar. These scars can look thin and crispy.

The severity of symptoms can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who have vascular Ehlers-Danlos syndrome, down syndrome often share distinctive traits of a thin nose, thin upper lip, small lobes of the ears, and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to other parts of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or of the large intestines — that may also break.

Causes

Different types of Ehlers-Danlos syndrome is associated with a variety of genetic causes, some of which are inherited and passed from parents to children. If you have the most common form, hypermobile Ehlers-Danlos syndrome, down syndrome, there is a 50% probability that you are going to pass on the gene to each of their children.

Complications

Complications depend on the types of signs and symptoms that you have. For example, overly flexible joints can result in joint dislocations and the early onset of arthritis. Fragile skin may develop scars prominent.

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal rupture of major blood vessels. Some organs such as the uterus and intestines, may also break. The pregnancy can increase the risk of a rupture in the uterus.

Prevention

If you have a personal or family history of Ehlers-Danlos syndrome, and you're thinking of starting a family, you may benefit from talking to a genetic counselor — a health professional trained to evaluate the risk of inherited disorders. Genetic counseling can help you understand the pattern of inheritance of the type of Ehlers-Danlos syndrome, a syndrome that affects you and the risks to their children.

Diagnosis

Very loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome, down's syndrome, are often sufficient to make a diagnosis. Genetic testing on a blood sample can confirm the diagnosis in the rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available.

Treatment

There is No cure for Ehlers-Danlos syndrome, down's syndrome, but treatment can help control your symptoms and avoid complications.

Drugs

Your doctor may prescribe medications to help 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 the blood vessels are more fragile in some types of Ehlers-Danlos syndrome, down syndrome, your doctor may reduce stress on the blood vessels keep blood pressure low.

Physical therapy

Joints with the weakness of the connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize the joints are the main treatment for Ehlers-Danlos syndrome. The physical therapist may also recommend specific supports to help prevent joint dislocations.

Surgical and other procedures

They may recommend surgery to repair damaged joints by repeated dislocations, or repair of the rupture areas of the blood vessels and organs. However, the surgical wounds may not heal properly because the stitches can break through the fragile tissues.

Lifestyle and home remedies

If you have Ehlers-Danlos syndrome, down syndrome, it is important to prevent injuries. Here are some things you can do to protect yourself.

  • Choose sports wisely. Walking, swimming, tai chi, recreational cycling, or using an elliptical machine or a stationary bike are all good options. Avoid contact sports, weightlifting, and other activities that increase the risk of injury. To minimize the stress on the hips, knees and ankles.
  • Rest of the jaw. To protect the joint of the jaw, avoid chewing gum, biscuits, and ice. Take breaks during the dental work to close the mouth.
  • Wear supportive shoes. To help prevent ankle sprains, wear lace-up boots with good arch support.
  • Improve sleep. Body of pillows and very dense, foam mattresses can provide support and cushioning for the joint pain. Sleeping on your side can also help.

Coping and support

Dealing with a life-long disease is a challenge. Depending on the severity of your symptoms, you may face challenges in the home, at work and in your relationships with others. Here are some suggestions that may help you cope:

  • Increase your knowledge. To know more about the syndrome, Ehlers-Danlos syndrome can help you to take control of your condition. Find a doctor with experience in the management of this disorder.
  • Tell the others. Explain your situation to family members, friends, and your employer. Ask your employer about all the comfort that you feel will make you more productive worker.
  • Build a support system. Cultivate relationships with family and friends who are positive and loving. It can also help to talk with a counselor or clergy member. Support groups, whether online or in person, to help people share common experiences and possible solutions to the problems.

Helping your child cope

If you are a parent of a child with Ehlers-Danlos syndrome, down syndrome, keep in mind these tips to help your child:

  • Maintain normalcy. Treat your child like other children. Ask others — grandparents, aunts, uncles, teachers, to do the same.
  • Be open. Allow your child to express their feelings about having the syndrome, Ehlers-Danlos syndrome, down syndrome, even if this means to be angry at times. Make sure that your child's teachers and other caregivers to know about the condition of your child. Review with them the proper care of the skills, especially in the case of a fall or injury.
  • To promote the safety of the activity. Encourage your child to participate in physical activities with the appropriate limits. Discourage contact sports, while encouraging non-weight-bearing activities, such as swimming. Your child's doctor or physical therapist may also have recommendations.

Preparing for your appointment

Perhaps at the beginning of your concerns to the attention of your family doctor, but he or she may refer you to a doctor who specializes in genetic diseases.

What you can do

Before your appointment, you can write a list of answers to the following questions:

  • What types of symptoms that you are experiencing?
  • Your parents, grandparents or siblings had similar symptoms?
  • Has any blood relative died of a rupture of the blood vessels or organs?
  • What medications and supplements that you take regularly?

What to expect from your doctor

Your doctor may ask some of the following questions:

  • Are any of your joints too flexible?
  • Is your skin extra stretchy?
  • Makes the skin heal shortly after the injury?
Symptoms and treatment of the syndrome, Ehlers-Danlos syndrome