How do you explain Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together. EDS can make your joints loose and your skin thin and easily bruised. It also can weaken blood vessels and organs.
What is Ehler Danlos Syndrome EDS )?
Overview. Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.
What is the defect in Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, cutaneous fragility, and hyperextensibility. The collagen defect has been identified in at least six of the many types of Ehlers-Danlos syndrome.
What type of mutation causes Ehlers-Danlos Syndrome?
Ehlers-Danlos syndromes (EDS) are genetic disorders that can be caused by mutations in several different genes , including COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 and ADAMTS2. However, the underlying genetic cause is unknown in some families.
What are the different types of Ehlers-Danlos syndrome?
Hypermobile EDS (hEDS) is the most common type. Other types of EDS include classical EDS, vascular EDS and kyphoscoliotic EDS.
What type of EDS is hypermobility?
Classical EDS (cEDS) is characterised by joint hypermobility, very stretchy skin, and fragile skin which leads to significant bruising and widened, sunken (atrophic) scars.
At what age is Ehlers-Danlos Syndrome diagnosed?
My geneticist told me that it often takes an average of 10 to 20 years to receive a diagnosis of EDS, with many people not receiving an accurate diagnosis until well into their 40s. As with many medical conditions, EDS disproportionately impacts women.
What are the specific symptoms of Ehlers-Danlos Syndrome?
Main types of Ehlers-Danlos syndromes (EDS)
- joint hypermobility.
- loose, unstable joints that dislocate easily.
- joint pain and clicking joints.
- extreme tiredness (fatigue)
- skin that bruises easily.
- digestive problems, such as heartburn and constipation.
- dizziness and an increased heart rate after standing up.
Who does Ehlers-Danlos syndrome affect?
The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and classical forms are most common; the hypermobile type may affect as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people.
What is the definition of Ehlers Danlos syndrome?
Definition Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues.
How is a diagnosis of vascular Ehlers Danlos made?
Diagnosis Diagnosis. Listen. A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene (usually) or the COL1A1 gene (rarely) can be ordered to confirm the diagnosis.
Can a person with Ehlers Danlos have a stroke?
The complications of some types of Ehlers-Danlos syndrome can be life-threatening. Some types, including vascular Ehlers-Danlos syndrome, can cause blood vessels to rupture (tear). When this happens, it can lead to dangerous internal bleeding and stroke. People with these types of Ehlers-Danlos syndrome also have a higher risk of organ rupture.
What causes bleeding in infants with Ehlers Danlos?
In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth. Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs.