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Ehlers-Danlos Syndrome - Causes, Symptoms, Types, Diagnosis, and Treatment

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Ehlers-Danlos Syndrome - Causes, Symptoms, Types, Diagnosis, and Treatment

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Ehlers-Danlos syndrome is a group of inherited disorders that affects the connective tissues in the body. Read this article to know about it in detail.

Medically reviewed by

Dr. C. Elanchezhian

Published At January 10, 2020
Reviewed AtAugust 8, 2023

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a rare hereditary condition where the connective tissues (the tissues responsible for supporting the internal organs), blood vessels, and bones get affected. The connective tissue is made of cells, fibers, and collagen (a type of protein). EDS affects 1 in 5,000 people in the world.

Patients with this condition have extremely fragile and stretchy skin and flexible joints. This results in frequent joint dislocations, and minor wounds that might need stitches, as the skin is too fragile. In addition, this condition can result in the spontaneous rupture of blood vessels and intestines in severe cases. It can also cause severe complications during pregnancy, so consult a doctor if someone around you is suffering from this condition and want to start a family.

What is the History of Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is one of the oldest known causes of bruising and bleeding and was first described by Hippocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, Henri-Alexandre Danlos suggested that skin extensibility and fragility were the cardinal features of the syndrome.

What Causes Ehlers-Danlos Syndrome?

Most EDS is inherited, but very few cases are not. Instead, it is caused due to spontaneous gene mutations, which affect collagen formation. Some genes responsible for assembling collagen and whose mutation can result in EDS are ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL6A2, PLOD1, and TNXB. For example, the ADAMTS2 gene gives instructions for producing a protein that works with collagen.

EDS can either be:

  • Autosomal Dominant - It is passed directly from a parent to their child.

  • Autosomal Recessive - The offspring has to inherit two mutated genes, one from each parent. This type can be seen only in one generation of family members.

What Are the Types of Ehlers-Danlos Syndrome?

1. Classical Type - Previously, it was called type I and II. It is the classic type of EDS, where the joint is hypermobile, and the skin is elastic and fragile. The skin is velvety and easily bruises or tears with minor injuries. It is an autosomal dominant condition, and patients commonly suffer from joint dislocations and scoliosis.

2. Hypermobility Type - Previously called type III. It is also an autosomal dominant condition, where the joints of the patient are hypermobile and prone to dislocation.

3. Vascular Type - Previously called type IV or the arterial form. Here, the arteries and bowel can spontaneously rupture, which can be fatal. It can either be autosomal dominant or recessive.

4. Kyphoscoliosis Type - Previously, it was called type VI. It is an autosomal recessive condition, where the individual has a fragile globe of the eyes, skin and joint laxity, and scoliosis.

5. Arthrochalsia Type - Previously called type VIIB or arthrochalasis multiplex congenita. Individuals who have this condition are short with severe joint laxity and dislocations.

6. Dermatosparaxis Type - This type was previously called type VIIC. It is a rare type of EDS, where the patients have severely fragile skin, which is soft and doughy with foldings.

7. Tenascin-X Deficient Type - Patients have hypermobile joints and hyperelastic skin, which is an autosomal recessive condition.

Other rare types include cardio-vascular, brittle cornea, spondylodysplastic, musculocontractural, myopathic, and periodontal. The most common types of EDS are hypermobility and classic types. Different types affect different parts of the body.

What Are the Symptoms of Ehlers-Danlos Syndrome?

The signs and symptoms of the commonest types of Ehlers-Danlos syndrome are:

Classic EDS:

  • Hypermobile joints.

  • Velvety skin.

  • Hyperelastic skin.

  • Fragile skin.

  • Easy bruising of the skin.

  • Muscular pain and fatigue.

  • Problems in the heart valves.

  • Benign growths in elbows and knees

Hypermobile EDS:

  • Hypermobile joints.

  • Easy bruising.

  • Muscular pain and fatigue.

  • Degenerative joint disease.

  • Problems in the heart valves.

  • Early osteoarthritis.

Vascular EDS:

  • Fragile and thin skin.

  • Fragile blood vessels.

  • Transparent skin.

  • Thin lips and nose.

  • Protruding eyes.

  • Cheeks appear sunken.

  • Small chin.

  • Problems in the heart valves.

Depending on the type and severity of the condition, the signs and symptoms can vary in different people. For example, some might show joint symptoms with no skin symptoms.

How Is Ehlers-Danlos Syndrome Diagnosed?

The doctor might perform various tests to diagnose EDS. For example, if a patient shows signs like hypermobile joints and hyperelastic skin, the doctor will try to rule out similar conditions through these tests. The following tests may be required:

  • Blood Test - To check for mutations in specific genes.

  • Echocardiogram - In this test, sound waves produce images of the heart as it pumps blood. This test will determine if the patient has heart or heart valve abnormalities.

  • Skin Biopsy - To check for abnormalities in collagen production.

  • DNA (Deoxyribonucleic Acid) Test - To confirm if an embryo has a defective gene, which is only done when the egg is fertilized outside the body for in vitro fertilization.

Can Ehlers-Danlos Syndrome Be Treated?

Currently, there is no known cure for Ehlers-Danlos syndrome. But treatment helps manage the symptoms and prevent complications. The treatment options are:

Medications:

  • Painkillers - Acetaminophen, Ibuprofen, and Naproxen sodium.

  • Antihypertensive Drugs - As blood vessels are fragile, the doctor might suggest medicines that reduce blood pressure to relieve stress.

Physiotherapy - As the joints dislocate often, exercises to strengthen and stabilize joints are needed. Braces might be needed to prevent joint dislocations.

Surgery - Surgery might be needed if the joints get damaged due to repeated dislocations. But, the skin of the affected joint might not heal properly after the operation. And the other indications for surgery are ruptured blood vessels or organs.

Home Remedies - Home remedies can help prevent injuries and to protect the joints. Some home remedies are-

  • Do not play contact sports.

  • Do not lift heavy weights.

  • To protect the skin, use sunscreen.

  • Do not use soaps and body wash that make the skin very dry.

  • To reduce pressure on the joints, use braces.

  • Wear extra padding and protection while riding a bike.

What Are the Complications of Ehlers-Danlos Syndrome?

The complications of Ehlers-Danlos syndrome can be life-threatening, which can cause blood vessels to rupture, leading to internal bleeding and stroke. The complications of EDs depend upon the type, which includes:

  • Joint pain.

  • Joint dislocations.

  • Osteoarthritis.

  • Wounds heal slowly and can result in prominent scars.

Conclusion

EDS can impact the daily life of the patient but rarely cause the risk of premature death. The symptoms of Ehlers-Danlos syndrome can be managed with physical therapy and pain management. In addition, genetic counseling may help identify the pattern and type of Ehlers-Danlos syndrome and formulate a treatment plan to avoid complications.

Frequently Asked Questions

1.

How Is Ehlers-Danlos Syndrome Diagnosed?

Ehlers-Danlos syndrome can be diagnosed with the help of the following tests:
- Echocardiogram.
- Blood test.
- DNA test.
- Skin biopsy.

2.

What Is the Life Expectancy of an Individual With EDS?

The average life expectancy of people with Ehlers-Danlos syndrome is 40-48 years. If the patient is known to be affected by a condition called kyphoscoliosis, then the lifespan is eventually reduced.

3.

Is Ehlers-Danlos a Painful Syndrome?

Yes, Ehlers-Danlos syndrome is a painful condition. It causes discomfort and pain in the joints, muscles, and nerves. It can also cause headaches and stomach problems.

4.

What Does EDS Pain Feel Like?

Patients with Ehlers-Danlos syndrome have joints that are under hypermobility. They always feel an urge to pop or crackle the joints. This provides them a certain degree of relief from pain. Some patients might sprain and dislocation.

5.

Does Ehlers-Danlos Get Worse With Age?

Yes, Ehlers-Danlos syndrome worsens with age. The brain and spine are affected. Many conditions that are associated with Ehlers-Danlos syndrome are known to be progressive in nature.

6.

What Age Ehlers-Danlos Syndrome Is Usually Diagnosed?

The diagnosis for Ehlers-Danlos syndrome usually takes an average age of 40 years. Approximately 12 different medical specialties are involved in the diagnosis of Ehlers-Danlos syndrome.

7.

Is Ehlers-Danlos Considered a Disability?

A condition or syndrome is considered as a disability only if the daily routine activities are disrupted. The classic and vascular type of Ehlers-Danlos syndrome is severe and is considered a disability.

8.

Does EFS Affect Teeth?

The majority of the patients do not experience any type of oral cavity problems. Since it is a condition affecting the connective tissue, the gingiva is known to be affected in some patients. Some of them might also experience pain in the temporomandibular joint.

9.

Does EDS Make You Look Young?

Yes, Ehlers-Danlos syndrome can make you look younger. The patients with EDS do not have any wrinkles as the collagen is additionally stretchy. This makes their skin soft and young.

10.

Does EDS Have Flare-Ups?

Patients with EDS experience an unpredictable flare-up in pain. It does not happen in an episodic pattern. EDS pain is also seen, along with inflammation in some patients.

11.

What Is EDS Sleep?

EDS refers to excessive daytime sleepiness. It is a possible symptom of narcolepsy. It is a condition in which the person experiences sleepiness during the daytime. They will also feel tired most of the time. This condition is different from Ehlers-Danlos syndrome.

12.

Does EDS Affect the Brain?

Yes, Ehlers-Danlos syndrome is known to affect the brain. It has a lot of neurological manifestations. In addition to the brain, alone is also known to be damaged in some patients.

13.

Is EDS an Autoimmune Disease?

Ehlers-Danlos syndrome is not an autoimmune disorder. It is known to occur due to the inheritance of this syndrome from the parents. It is a rare genetic condition.

14.

Does EDS Cause Fatigue?

Yes, Ehlers-Danlos syndrome causes fatigue. It is more commonly seen in the hypermobile type of EDS. The strength of the tendons, ligaments, blood vessels, skin, and muscles are lost. This will make a person additionally tired.

15.

Does EDS Cause Stretch Marks?

Yes, EDS causes stretch marks at a very young age. In addition to this, the skin becomes more fragile, and abnormal scarring would be seen. The wound healing is also delayed in such patients.

16.

How Common Is Hypermobile Ehlers-Danlos Syndrome?

The hypermobile type of EDS is the most common variant. It is known to affect one individual among 5000 to 20000 people. The affected individuals experience the severity of the condition after a certain period of time.

17.

What Serious Health Problems Can Come With EDS?

Some of the serious health problems associated with EDS are:
- Joint problems.
- Cardiovascular problems.
- Brain and spine.
- Skin.
- Postural tachycardia syndrome.
- Digestive disorders.
- Bladder problems.
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Dr. C. Elanchezhian
Dr. C. Elanchezhian

General Medicine

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