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

Written by
Dr. Sneha Kannan
and medically reviewed by Dr. C Elanchezhian

Published on Jan 10, 2020   -  5 min read

Abstract

Abstract

Ehlers-Danlos syndrome is a group of inherited disorders that affects the connective tissues in the body, making the skin hyperelastic and joints hypermobile. Read about the causes, symptoms, types, diagnosis, and treatment options.

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

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a rare hereditary condition, where the patient’s connective tissues, which are 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 might need stitches, as the skin is too fragile. In severe cases, this condition can result in the spontaneous rupture of blood vessels and intestines. It can also cause severe complications during pregnancy, so consult a doctor if you are suffering from this condition and want to start a family.

History of This 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?

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

EDS can either be:

  1. Autosomal dominant - It is passed directly from a parent to his or her child.

  2. 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 types 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 patient’s joints are hypermobile, which are prone to get dislocated.

  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 be either 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, hyperelastic skin, and it is an autosomal recessive condition.

Other rare types include cardiac-vascular, brittle cornea, spondylodysplastic, musculocontractural, myopathic, and periodontal types. The most common types of EDS are the 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. Some might show joint symptoms with no skin symptoms.

How Is Ehlers-Danlos Syndrome Diagnosed?

Various tests might be performed by your doctor to diagnose EDS. If you show signs like hypermobile joints and hyperelastic skin, the doctor will try to rule out similar conditions through these tests. The tests that you might need to undergo are:

  • Blood test - To check for mutations in certain genes.

  • Echocardiogram - Here, sound waves are used to produce images of the heart as it pumps. This test will determine if you have a heart or heart valve abnormalities.

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

  • DNA 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 fragile, to relieve stress, the doctor might suggest medicines that reduce blood pressure.

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

Surgery - If the joints get damaged due to repeated dislocations, surgery might be needed. 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 heavyweights.

  • To protect your skin, use sunscreen.

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

  • To reduce pressure on your joints, use braces.

  • Wear extra padding and protection while riding a bike.

What Are the Complications of Ehlers-Danlos Syndrome?

The possible complications of EDS are:

  • Joint pain.

  • Joint dislocations.

  • Osteoarthritis.

  • Wounds heal slowly and can result in prominent scars.

If you have been diagnosed with this condition and have questions about its prognosis, then consult a doctor online now.

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Last reviewed at:
10 Jan 2020  -  5 min read

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