Can you have vascular EDS without the facial features?
Can you have vascular EDS without the facial features?
Hyperextensibility of the finger joints and subcutaneous hemorrhage in the thenar region were observed. The patient showed none of the characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears) of Vascular Ehlers-Danlos syndrome.
What are the symptoms of vascular Ehlers-Danlos Syndrome?
Some signs of VEDS are easy to see
- Thin, translucent skin with increased vein visibility.
- Characteristic facial appearance (thin lips, small chin, thin nose, large or deep-set eyes)
- Premature aged appearance of the hands and feet (acrogeria)
- Hypermobility of small joints (“double-jointedness”)
- Gum recession and fragility.
Can you have mild vascular EDS?
About Vascular Ehlers-Danlos syndrome Children with vascular Ehlers-Danlos syndrome can have mild or severe signs and may have characteristic facial features such as a small chin, thin nose and lips, and deep-set, large eyes.
Can you have vascular EDS and not know it?
In many people without a family history of the condition, a diagnosis of vascular EDS is not considered until they present with a medical emergency such as dissection or rupture of an artery, an organ rupture (for example bowel or womb) or after the discovery of one or more aneurysms (a swelling in an artery).
Can EDS affect your nose?
About 50% of individuals with EDS have the ability to touch the tip of the nose with their tongue (Gorlin’s sign) – this is especially likely with classical and hypermobile EDS. The oral mucosa may be thin, easily tear and give rise to mouth ulcers (classical and hypermobile EDS).
At what age is vascular EDS diagnosed?
The majority of children with VEDS who are diagnosed before 18 years of age are identified because of a positive family history. Approximately half of the children tested for VEDS in the absence of a positive family history present with a major complication at an average age of 11 years.
What mimics Ehlers-Danlos syndrome?
Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin.
Can you have vascular EDS without stretchy skin?
Skin and Connective Tissue: People with hEDS do NOT have to have profoundly stretchy skin! Most notably, in hEDS, the degree of softness, stretchiness, fragility, bruisability, and poor wound healing of skin differs from “normal” subjects but is mild in comparison to other types of EDS.
What should be avoided with vascular EDS?
People with Vascular Ehlers-Danlos Syndrome (VEDS) should avoid these circumstances:
- Because of tissue fragility, it is prudent to avoid collision sports, heavy lifting, and muscle straining.
- Conventional arteriography using catheters with contrast injection should generally be avoided unless absolutely necessary.
Does EDS affect facial features?
People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.
Can EDS affect your eyes?
Ehlers Danlos Syndrome patients are prone to myopia and elongated eyes due to the stretching of the collagenous sclera.
Can you live a long life with vascular Ehlers-Danlos?
Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”
What type of EDS is vascular?
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. People with vEDS may have: skin that bruises very easily.
What is the life expectancy of someone with vascular EDS?
Why is vascular EDS so serious?
Vascular Ehlers-Danlos syndrome (vEDS, VEDS, previously known as EDS type IV) is an uncommon, dominantly inherited, genetic connective tissue disorder. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture.
Does EDS affect the eyes?
Does EDS affect teeth?
In addition people with EDS, like any other individual, are at risk of some periodontal disease that can ultimately lead to bad breath, gum bleeding, tooth mobility or tooth loss. Good oral hygiene will reduce the risk of periodontal disease.
How does Ehlers-Danlos affect hair?
The defects of the collagen previously reported in EDS account for the increased extensibility of the skin (1, 2). It is possible that the altered skin structure results in increased pliability of the skin which may allow the hair follicles to expand.
Is vascular EDS a terminal illness?
Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures.
Does EDS affect nails?
Abnormalities of the nails are frequently seen in clinical practice although there has been no specific study of these in people with EDS. Difficulty with hand function, coupled with painful upper and lower limb joints, may also make it difficult for someone to reach and cut their toenails.
Does taking collagen help with EDS?
Bottom Line: No established research or clinical experience has proven that collagen supplementation is helpful for persons with EDS! Theoretically, a diet adequate in glycine, proline, lysine, and vitamin C (or supplementation) would support collagen biosynthesis.
Do people with EDS have high cholesterol?
EDS can cause serious problems within the circulatory system. People with this condition often suffer from low blood pressure and high cholesterol. They may experience aneurysms or tiny veins that cause restricted blood flow, resulting in ruptures in the veins and arteries.
What do EDS eyes look like?
(The cornea is the clear outer layer of the eye.) Changes in the cornea can cause dry eyes and light sensitivity, as well as a blurry vision — symptoms that many EDS patients report. In rare cases, the sclera (the white part of the eye) may turn slightly blue in EDS patients.
Do people with Ehlers-Danlos get wrinkles?
Geurts has a rare skin disorder called Ehlers-Danlos syndrome (EDS), which affects connective tissue and slows down collagen production, making skin fragile, wrinkled, and less elastic at a much earlier age.