Ehlers-Danlos syndrome (EDS) is a genetic disorder that affects the connective tissues in the body. Connective tissues provide support to the skin, bones, blood vessels, and other organs and tissues. People with EDS have defective collagen, a protein that gives strength and elasticity to the connective tissues. This results in joints that are hypermobile, skin that is easily bruised, and blood vessels that are fragile.
Types of Ehlers-Danlos syndrome
There are several types of Ehlers-Danlos syndrome (EDS), which are classified based on the specific genetic defect and the symptoms that result. The most common types of EDS include:
- Hypermobility type: This is the most common subtype of EDS, characterized by hypermobile joints and soft, velvety skin. People with this type of EDS are also at increased risk of joint dislocations and chronic pain.
- Classical EDS: This type of EDS is characterized by joint hypermobility, skin that is easily bruised, and scarring that is excessive. People with this type of EDS also have a risk of organ rupture, such as aortic dissection.
- Vascular EDS: This type of EDS is characterized by extremely fragile blood vessels, skin that bruises easily, and characteristic facial features. This is a severe type of EDS and can be life-threatening.
- Kyphoscoliotic EDS: This type of EDS is characterized by severe joint hypermobility and progressive scoliosis.
- Arthrochalasia EDS: This type of EDS is characterized by joint hypermobility, dislocations, and a high risk of hip dislocations.
- Dermatosparaxis EDS: This type of EDS is characterized by extremely fragile skin that bruises and tears easily.
- Other less common subtypes of EDS include:
- Musculocontractural EDS
- Myopathic EDS
- Cardiac-valvular EDS
- Periodontal EDS
- Spondylodysplastic EDS
- Tenascin-X deficient EDS
What causes Ehlers-Danlos syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is caused by a genetic defect in the production of collagen and other proteins that make up connective tissues. Collagen is a protein that gives strength and elasticity to the connective tissues, and defects in collagen production result in the symptoms of EDS. EDS is inherited in an autosomal dominant pattern, which means that a person with EDS has a 50% chance of passing the condition on to their children. Some types of EDS are caused by new genetic mutations and occur in people with no family history of the condition.
The common causes of EDS include:
- Defects in genes that produce type V collagen: The most common types of EDS, hypermobility type and classical type, are caused by defects in the COL5A1 and COL5A2 genes, which produce type V collagen.
- Defects in genes that produce type I collagen: The kyphoscoliotic type and arthrochalasia type of EDS are caused by defects in the COL1A1 and COL1A2 genes, which produce type I collagen.
- Defects in genes that produce other types of collagen: Other types of EDS are caused by defects in genes that produce other types of collagen, such as type III collagen (vascular type) and type VI collagen (kyphoscoliotic type)
- Defects in genes that regulate collagen production and structure: The dermatosparaxis type of EDS is caused by a defect in the ADAMTS2 gene, which regulates the structure of collagen.
- Other less common causes of EDS include defects in genes that code for proteins that regulate collagen production and structure such as TNXB, PLOD1, and CHST14
Ehlers-Danlos syndrome (EDS) can affect people of all ages, genders, and ethnicities. The condition is considered rare, but the exact incidence is not well known. The prevalence of EDS is thought to be around 1 in 5,000 people, but it may be underdiagnosed and more common.
Certain types of EDS are more common in certain populations. For example, the hypermobility type of EDS, the most common subtype, is more common in females, and in people of African or Afro-Caribbean descent. The classical type, which is less common, is more likely to affect females. The vascular type, which is the most severe, is rare and affects both men and women.
Diagnosing Ehlers-Danlos syndrome
Diagnosis of Ehlers-Danlos syndrome (EDS) can be difficult because the symptoms vary widely and may be mistaken for other conditions. A diagnosis is usually based on a combination of physical examination, medical history, and genetic testing.
Diagnosis of Ehlers-Danlos syndrome (EDS) typically involves the following steps:
- Physical examination: A healthcare provider will perform a physical examination to evaluate for symptoms of EDS such as joint hypermobility, skin that bruises easily, and fragile blood vessels. They will also check for signs of joint dislocations, scoliosis and other physical characteristics that may suggest EDS.
- Medical history: A healthcare provider will take a detailed medical history, including information about any family members with EDS or similar symptoms. They may also ask about any previous injuries or surgeries that may be related to EDS.
- Genetic testing: Genetic testing is the most specific and reliable way to diagnose EDS. Genetic testing can confirm a diagnosis of EDS and identify the specific type of EDS a person has. Genetic testing can also help to rule out other conditions that may have similar symptoms.
- Collaboration with Specialists: EDS diagnosis requires a multidisciplinary approach, meaning a geneticist, rheumatologist and other specialists are often involved in the diagnostic process
Be aware of the criteria for diagnosis: The Beighton score, a nine-point system for evaluating joint hypermobility and the 2017 international classification criteria for EDS are widely used criteria to diagnose EDS.
Ehlers danlos syndrome (EDS) treatment
Ehlers-Danlos syndrome (EDS) is a genetic disorder and there is no specific cure. However, it is possible to manage many of the symptoms with support and advice. Treatment options may include:
- Physical therapy: Physical therapy can help to improve joint stability and range of motion, reduce pain, and prevent dislocations.
- Occupational therapy: Occupational therapy can help people with EDS to learn how to perform daily activities in a way that minimizes stress on their joints.
- Medications: Medications may be prescribed to control pain, reduce inflammation, and prevent blood clots.
- Surgery: Surgery may be necessary to repair joint dislocations or other injuries.
- Orthotics: People with EDS may benefit from the use of orthotics such as braces, to provide stability to hypermobile joints and to protect against dislocations.
- Pacing and activity management: People with EDS should be advised to pace their activities, avoid over-exertion, avoid positions that put stress on affected joints and to avoid contact sports.
- Emotional support: Living with EDS can be challenging, and emotional support can be important for people with EDS and their loved ones. Support groups and counseling may be helpful.
Complications of Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) can lead to a variety of complications, which can vary depending on the type of EDS and the severity of the condition. Some of the potential complications of EDS may include:
- Joint dislocations: People with EDS are at an increased risk of joint dislocations due to the hypermobility of their joints.
- Chronic pain: People with EDS may experience chronic pain due to joint dislocations and other injuries.
- Scoliosis: Some types of EDS, such as the kyphoscoliotic type, can lead to progressive scoliosis.
- Skin complications: People with EDS may experience skin complications such as easy bruising, slow wound healing, and scarring.
- Cardiovascular complications: The vascular type of EDS is associated with an increased risk of blood vessel and arterial ruptures, which can be life-threatening.
- Gastrointestinal complications: People with EDS may have an increased risk of bowel and bladder complications such as hernias, diverticulitis, and intestinal ruptures
- Pregnancy and birth complications: Women with EDS may be at increased risk of complications during pregnancy and childbirth, such as preterm labor, bleeding, and uterine rupture