What is Ehlers-Danlos Syndrome? What are the Causes, Symptoms and Treatment?

Ehlers-Danlos syndrome is a group of genetic disorders that affect the connective tissues of the body, including those in the joints, skin, and blood vessels. There are several different types of Ehlers-Danlos syndrome. This condition affects 1 in 5,000 people globally. However, some forms of the syndrome are very rare and affect only a few people worldwide. You can find more information below.

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome , also known as EDS for short , is a genetic disease that affects the connective tissues in the body . Connective tissues; are proteins and other substances that provide support and flexibility to interstitial spaces. They provide support to tissues throughout the body, such as:

  • blood vessels
  • bones
  • Skin
  • Muscles
  • Tendons (connections located next to joints)
  • Ligaments (connective tissues that connect one bone to another)
  • Organs
  • eyes

Ehlers-Danlos syndrome; In humans, it usually causes loose joints ( joint hypermobility ) or soft, fragile joints, flexible skin ( skin hyperextension ), weak blood vessels in the composition of connective tissues .

Types of Ehlers-Danlos syndrome

There are 13 subtypes of Ehlers-Danlos syndrome (EDS). There may be some overlap in clinical criteria characterizing each subtype. The most common types are hypermobile and classic. Other forms are rarer.

Hipermobil EDS

Hypermobile EDS is the most common type, affecting between 5,000 and 20,000 people worldwide. There is no genetic test for this type of EDS, so a doctor will diagnose this disease based on a person’s symptoms. Symptoms that cause skin and joint problems, fatigue, mood problems, and digestive issues are considered serious symptoms.

Classic EDS

It is estimated that the classic type of EDS will affect between 1 in 20,000 and 1 in 40,000 people. Classical EDS also causes joint problems, but this type of people have more skin symptoms than the hypermobile type. It can also cause fragile blood vessels.

Vascular EDS

Vascular EDS is a rare form that affects the large intestine and blood vessels and internal organs, including the uterus (uterus). Complications include life-threatening bleeding and difficulties during pregnancy. People with this type of EDS may have unusual facial features, such as a thin nose, small earlobes, sunken cheeks, and eyes with various visual impairments, due to the lesser amount of fat under the skin.

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Others

Other rare types of Ehlers-Danlos syndrome include :

  • Classic-like EDS
  • Cardiac valve EDS (type of EDS affecting the heart valve)
  • Arthroclasia EDS (a type of EDS that affects joint mobility and causes joint pain)
  • Dermatosparaxis EDS (a type of EDS that affects the skin, causing it to be saggy or too flexible)
  • Kyphoscoliotic EDS (A type of EDS that causes forward spinal curvature – hunching-)
  • brittle cornea syndrome
  • Spondylodysplastic EDS (type of EDS that affects patients with congenital lumbar sprain)
  • EDS affecting the musculoskeletal system
  • Myopathic EDS (type of EDS that affects muscle tissues)
  • Periodontal EDS (type of EDS that affects the teeth and the tissues surrounding the tooth structure)

Some of these are very rare. For example , researchers only know of 12 people with dermatosparaxis EDS and believe that only 30 people have arthroklasia EDS.

Causes of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a genetic disorder, meaning that one or more of the symptoms is caused by a genetic abnormality. Mutations in at least 19 genes can cause a child to be born with EDS.

Some forms of EDS are inherited, meaning a parent can pass the abnormal gene on to their children. In this case, the child will have the same type of Ehlers-Danlos syndrome as its parent.

According to the National Organization for Rare Disorders (NORD), founded in the United States, an affected parent has a 25% or 50% risk of passing the mutation to their children, depending on whether the inheritance is dominant or recessive. Subtypes of EDS have different inheritance patterns.

In some cases, the abnormal gene may not come from one of the parents. It can be caused by a momentary genetic mutation that occurs in the egg or sperm but is not inherited.

Symptoms of Ehlers-Danlos syndrome

Symptoms of Ehlers-Danlos syndrome vary depending on the type. It also differs from one person to another. Most people with EDS have some degree of joint hypermobility (joints that are too flexible or mobile) and skin hyperextensibility (a condition where the skin is overly flexible). In some cases, people may have other symptoms, depending on the type of Ehlers-Danlos syndrome. Symptoms may include:

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common problems

Ehlers-Danlos syndrome causes joints such as:

  • Loose
  • Painful
  • Hypermobile, i.e. going beyond the normal range of motion for a joint

Complications of these symptoms include dislocated joints and joint calcification (osteoarthritis).

skin problems

The skin of individuals with this disease is as follows:

  • Soft and velvety
  • Fragile
  • slow healing
  • Extremely flexible

These skin symptoms can lead to various complications such as:

  • severe bruising or tearing
  • serious scar
  • slow healing wounds
  • Molluscum pseudotumors, which are small, fleshy lesions that develop on the skin

Other symptoms

Ehlers-Danlos syndrome can cause additional symptoms, including:

  • Chronic musculoskeletal pain
  • Scoliosis, which is an abnormal curvature of the spine
  • breathing difficulties
  • Curved or curved arms and legs
  • low muscle tone
  • Gum disease and dental problems
  • Mitral valve prolapse (heart valve collapse) and heart disease
  • eye problems

The vascular type of Ehlers-Danlos syndrome can cause serious symptoms, including rupture (rupture) of the blood vessels, uterus, or intestinal walls. This damage; It can lead to serious complications, especially during pregnancy. It can be fatal if larger blood vessels rupture.

Diagnosis of Ehlers-Danlos syndrome

To diagnose Ehlers-Danlos syndrome; The doctor will perform a physical exam and take a personal and family health history.

If a person has characteristic skin and joint symptoms and a family history of such disorders, this is usually sufficient for the doctor to make a diagnosis. In some cases, another genetic sample can help confirm the diagnosis.

However, people may have several symptoms of Ehlers-Danlos syndrome but not have it. For example, joint hypermobility affects about 1 in 30 people and is very common, but these are not EDS.

Anyone who is concerned that they may have EDS should speak to a doctor.

Ehlers-Danlos syndrome treatment

Although there is no clear targeted treatment for Ehlers-Danlos syndrome, medical treatment can provide symptom relief and reduce the risk of complications.

Treatment options include:

Physical therapy and exercise

People often need physical therapy to help them manage joint symptoms and reduce the risk of dislocations. It is very important to work with a physical therapist who is familiar with this condition. In addition to exercises, braces or splints may be recommended to provide support for weak joints.

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Medication

Ehlers-Danlos syndrome; It tends to cause chronic pain and discomfort, often in the joints, muscles, or nerves. It can also cause stomach problems and headaches.

Medication can be an important part of treatment for many people with Ehlers-Danlos syndrome to eliminate or reduce a pain.

In daily life, patients can take over-the-counter pain medications such as paracetamol (acetaminophen – pain relievers and fever reducers) or ibuprofen (anti-inflammatory and pain relievers). Acute injuries may require prescription pain relievers. The doctor may prescribe other medications for additional symptoms.

Remember, your doctor will decide which medicine to take and how.

Surgical treatment

In some cases, surgery may be necessary for:

  • repair joint damage
  • To fix ruptured (torn) blood vessels
  • Providing joint stabilization
  • Reducing pressure on nerves

However, surgery may pose additional risks because of the skin symptoms that Ehlers-Danlos syndrome causes, such as slow healing.

lifestyle changes

People with Ehlers-Danlos syndrome can manage their symptoms in the following ways:

  • avoiding contact sports, weightlifting, other activities that put too much strain on the joints or increase the risk of injury
  • Using protective helmets and supportive tools during activities
  • Participating in swimming, pilates, yoga or other light training
  • Getting enough rest and establishing a good sleep pattern to avoid fatigue
  • avoiding hard foods and chewing gum that increase the risk of injury to the jaw
  • Taking short breaks during eating to prevent jaw strain
  • Avoid playing wind instruments, as these increase the risk of lung collapse, especially in people with vascular EDS

Ehlers-Danlos syndrome prognosis

The outlook for Ehlers-Danlos syndrome varies between individuals, depending on the type they have and the severity of their symptoms.

Except for the vascular type, most types of Ehlers-Danlos syndrome rarely reduce quality of life. People with vascular EDS are at higher risk of organ or blood vessel rupture, but taking precautions and getting the right treatment can help.

For example, one long-term study reported that participants with vascular EDS who took celiprolol, a drug that lowers blood pressure, had a high survival rate and a low incidence of arterial (arterial system) complications.

Although Ehlers-Danlos syndrome can cause distressing symptoms, lifestyle changes and medical treatments can provide relief, improve quality of life, and reduce the risk of injury and complications.

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