Ehlers Danlos syndrome - Symptoms, causes and treatment

Health

Ehlers-Danlos syndrome is a collection of symptoms caused by: weakness in the connective tissue that supports the skin, bones, or joints. This condition occurs due to mutations or genetic disorders.

Ehlers-Danlos syndrome or Ehlers-Danlos syndrome (EDS) can run in families. This condition is classified as rare, with an incidence ratio of 1: 5,000 people. When a person has Ehlers-Danlos syndrome, the skin and joints appear more elastic or supple, but are fragile and prone to injury.

EDS consists of 13 types, but the most common are hypermobile EDS. Meanwhile, EDS whose symptoms are quite severe are vascular EDS, cardiac-valvular EDS, and kyphoscoliotic EDS.

Causes of Ehlers-Danlos sindrom syndrome

Ehlers-Danlos syndrome is caused by a genetic disorder. There are at least about 20 types of gene mutations that can cause EDS. Some of the most common types of genes found were COL5A1, COL5A2, COL1A1, COL1A2, COL3A1, TNXB, ADAMTS2, PLOD1, and FKBP14.

Mutations in these genes cause weakness in the connective tissue that supports the skin, joints, bones, and blood vessels. EDS can be passed down from parent to child. However, under certain conditions, EDS can also occur randomly without a family history.

Symptoms of Ehlers-Danlos Sindrom Syndrome

Ehlers-Danlos syndrome It causes disruption of the connective tissue that supports the skin, tendons, ligaments, blood vessels, internal organs, and bones. Symptoms in each patient can be different, depending on the type of EDS experienced. However, in general, people with Ehlers-Danlos syndrome will experience the following symptoms:

  • Joints that are too flexible and cause hypermobility
  • Skin is more elastic than normal
  • Skin feels soft like velvet
  • Fragile skin, easy to bruise and hurt
  • It is easy to appear scars that look abnormal, such as scar

In addition to those mentioned above, the following will further describe the symptoms of EDS by type:

1. Hypermobile Ehlers-Danlos syndrome

hypermobile EDS is the most common type of EDS compared to other types of EDS. When experiencing this condition, sufferers can experience a number of symptoms, such as having more than normal body flexibility (hypermobility) and unstable joints making it easy to dislocate.

Joint or muscle pain that lasts continuously and weak muscles (hypotonia) are also often experienced by people with EDS.

Children who suffer from this condition will experience delays in motor development, such as being too late to sit, stand, and walk.

2. Vascular Ehlers-Danlos syndrome

Some of the symptoms that can arise when a person is suffering vascular Ehlers-Danlos syndrome These are large-looking eyes, a small nose, thin upper lip, small ears, thin skin that bruises easily, varicose veins, and more flexible fingers and toes.

In addition, patients with this type of EDS have weak blood vessels and are prone to tearing. As a result, bleeding can occur.

3. Cardiac-valvular Ehlers-Danlos syndrome

4. Kyphoscoliotic Ehlers-Danlos syndrome

When experiencing kyphoscoliotic Ehlers-Danlos syndrome, In addition to experiencing spinal disorders, sufferers can also experience weak bones, nearsightedness (myopia), glaucoma, and joint disorders, including joints that are more flexible, loose, and easy to shift (dislocations).

5. Classic Ehlers-Danlos syndrome

The sufferer has smooth skin, bruises easily, and tears easily on the forehead, knees and elbows. These wounds cause scars that take a long time to heal and leave wide scars on the skin. In addition, this type of EDS can also cause hernias and organ failure.prolapse), as well as flat feet.

In addition, there are various other types of EDS that are very rare, ranging from arthrochalasia Ehlers-Danlos syndrome, dermatosparaxis Ehlers-Danlos syndrome, brittle cornea Ehlers-Danlos syndrome,spondylodysplastic Ehlers-Danlos syndrome, Musculocontractural Ehlers-Danlos syndrome, myopathic Ehlers-Danlos syndrome, and Periodontal Ehlers-Danlos syndrome.

When to go to the doctor

Do an examination to the doctor if complaints and symptoms appear, as mentioned above. Early examination and treatment is needed to prevent complications and determine the underlying cause.

If you or your partner has a family who suffers from EDS, do genetic testing to determine the risk of passing this condition on to future generations. In addition, sufferers vascular Ehlers-Danlos syndrome Those who are planning a pregnancy must consult a doctor first to prevent complications.

Diagnosis of Ehlers-Danlos Sindrom Syndrome

To determine the diagnosis of Ehlers-Danlos syndrome, the doctor will ask for complaints and symptoms, as well as the patient's and family's medical history. Next, the doctor will perform a thorough examination, including checking the movement and flexibility of the joints, as well as skin elasticity and scars on the patient's skin.

To determine the severity and condition of the patient, the doctor will carry out supporting examinations, such as:

  • Genetic testing, to check for genetic disorders suffered
  • Echocardiography, to check for disorders of the heart and blood vessels
  • Scanning tests, such as CT scans and MRIs, to clearly see abnormalities in the patient's body
  • Biopsy by taking a sample of the patient's skin, to determine the presence or absence of abnormal cells

DNA testing can also be done to detect genetic abnormalities in the future fetus (embryo) in IVF procedures.

Ehlers-Danlos Sindrom Syndrome Treatment

There is no cure for Ehlers-Danlos syndrome (EDS). Treatment aims to reduce the severity of symptoms and prevent complications. Treatment methods used to reduce the symptoms of Ehlers-Danlos syndrome include:

Drugs

Some of the drugs that will be given to reduce the complaints and symptoms experienced by EDS sufferers are:

  • Pain relievers, such as ibuprofen, naproxen, and paracetamol
  • Supplements, such as calcium and vitamin D to strengthen bones and teeth

Therapy

Patients with EDS will be advised to undergo therapy, such as:

  • Physical therapy, such as swimming and cycling, to strengthen joints, build muscle, improve coordination, avoid injury, and manage pain
  • Occupational therapy, to help sufferers live their daily lives and learn how to use assistive devices
  • Cognitive behavioral counseling and therapy (CBT), to improve mental well-being and change mindsets to become more positive and optimistic

Use of supporting equipment, such as supports (braces) and a wheelchair, can also be done to facilitate movement.

Operation

Surgery will be performed to repair joint damage caused by repeated dislocations or repair damaged blood vessels or organs, especially in patients with vascular Ehlers-Danlos syndrome

Self Care

In addition to the several treatment methods above, people with Ehlers-Danlos syndrome are recommended to do self-care. Some self-care steps that can be done are:

  • Regularly clean your teeth with a soft-bristled toothbrush
  • Get enough rest
  • Always be careful when doing activities that rely on joint or muscle strength
  • Protect the jaw joint by not chewing gum and biting or chewing ice cubes
  • Avoid playing musical instruments that require lung power, such as the trumpet, to reduce the risk of this happening pulmonary collapse
  • Avoid sports that involve physical contact, have a high risk of injury, and put a strain on the joints, such as soccer, boxing, or weightlifting
  • Use body armor before starting an activity or sport, such as knee and elbow protectors when cycling

Complications of Ehlers-Danlos Syndrome

Complications from Ehlers-Danlos syndrome can vary, depending on the type and severity of the symptoms. Here are some complications that can occur:

  • Dislocation due to excessive joint flexibility
  • Arthritis or joint inflammation
  • Difficulty breathing and difficulty breathing, due to disorders of the spine
  • Permanent scars
  • Bleeding due to tearing and rupture of blood vessels
  • Heart problems, due to heart valve abnormalities or damage to blood vessels in the heart

Prevention of Ehlers-Danlos Sindrom Syndrome

Ehlers-Danlos syndrome cannot be prevented because it is caused by a genetic disorder. However, you can reduce your baby's risk of developing Ehlers-Danlos syndrome by having a consultation or genetic examination before planning a pregnancy and regular pregnancy check-ups.