What is Type 4 Ehlers-Danlos?
Definition. Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited disorder of connective tissue characterised by severe arterial and digestive complications which are rarely, if at all, observed in the other forms EDS [1, 2].
How is EDS type 4 diagnosed?
The clinical diagnosis of Ehlers–Danlos syndrome type IV rests on the finding of at least two of four diagnostic criteria (thin, translucent skin; arterial, intestinal, or uterine rupture; easy bruising; and a characteristic facial appearance), but laboratory studies are necessary for confirmation.
What is Ehlers-Danlos syndrome life expectancy?
Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.
What type of collagen is affected in Ehlers-Danlos type IV?
EDS type IV can be caused by missense point mutations affecting the glycine residues of the triple helix [46], splicing mutations with exon skipping [47], small or large deletions [44] or haploinsuffiency [48]. Each mutation is particular to a given family [5,49].
Is Ehlers-Danlos syndrome fatal?
People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture.
Is Ehlers-Danlos serious?
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.
What is the most severe form of Ehlers-Danlos syndrome?
Does Ehlers-Danlos affect the brain?
Because EDS is a connective-tissue disorder, it is not commonly associated with the brain or the nervous system. However, there is evidence that some types of EDS can affect the brain. Studies have suggested that patients with EDS might be susceptible to damage to brain cells after even a mild traumatic head injury.
Does Ehlers-Danlos syndrome qualify for disability?
If you have EDS and are unable to work because of severe symptoms from it, you may be eligible for disability benefits, including Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI).
Are you born with Ehlers-Danlos?
EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line.