What is meant by Dermatosparaxis?
Ehlers-Danlos syndrome, dermatosparaxis type: A genetic disorder characterized by extremely fragile and sagging skin caused by mutation in the ADAMTS2 gene. People with this form of Ehlers-Danlos syndrome have soft, doughy skin that is very fragile and bruises easily.
What causes Dermatosparaxis?
Dermatosparaxis EDS (dEDS) is caused by changes ( mutations ) in the ADAMTS2 gene . This gene encodes an enzyme that helps process several types of “procollagen molecules ” (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body.
How many people have Dermatosparaxis EDS?
Dermatosparaxis EDS is an example of an extremely rare type of EDS, with only a few cases recorded in medical literature. Vascular EDS is reported to have a prevalence of 1 in 100,000 individuals, and cardiac-valvular EDS a prevalence of less than 1 in a million people.
What is the life expectancy of someone with EDS?
People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age 40. The lifespan of people with the kyphoscoliosis form is also decreased, largely due to the vascular involvement and the potential for restrictive lung disease.
What is Dermatosparaxis sheep?
Dermatosparaxis is an inherited connective tissue disorder attributable to abnormal collagen in the skin which causes extreme skin fragility. Normal collagen provides elasticity and strength. Dermatosparaxis most often affects lambs. They suffer tearing of the skin, usually in their inner thighs and under armpits.
How is Vascular EDS diagnosed?
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.
Is EDS life threatening?
Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.
Is EDS considered a disability?
Can I Get Disability For Ehlers-Danlos Syndrome (EDS)? The answer is that Ehlers-Danlos Syndrome (EDS) can be a disabling condition, depending on how it presents. EDS is a genetic disorder affecting connective tissues and causing an array of serious physical problems, ranging from joint pain to cardiovascular issues.
Is EDS an autoimmune disease?
A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it’s an inherited disorder.
Does EDS worsen with age?
Many of the problems associated with EDS are progressive, meaning that they get worse over time.
Can you live a long life with vascular EDS?
For example, the life expectancy of people with vascular EDS — a type characterized by fragile arteries, muscles, and internal organs — can be severely reduced, with most patients having a serious medical event by the time they are 40. The median life expectancy for individuals with vascular EDS is around 48 years.
At what age is EDS 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.