Doctor insights on:
I Looked Up Ehler Danlos And Saw A Lot Of Things I Have How Can I Be Tested
First: The first step is a clinical history and physical examination. Most ehlers-danlos are diagnosed on this basis alone. Doctors who are most familiar with the syndrome are geneticists and rheumatologists. If you make an appointment with a doctor, ask first if he/she evaluates patients for this syndrome. ...Read more
1 in 5, 000: The incidence of EDS is estimated to occur in 1 person in 5, 000. ...Read more
Should I get tested for ehlers danlos syndrome if I have a majority of the symptoms and are in my early 20?
Depends: Specific tests for Ehler-Danlos are expensive and not readily available and there are more than one type. Management depends more on clinical findings than tests. Usually other family members are involved. That said, if there is a medical school or foundation near you that is involved in testing for studies, etc., go ahead. ...Read more
I can pop my shoulders in and out of their sockets it's not painful, and I have lots of fainting episodes could I have ehlers danlos syndrome?
It's been suggested to me that I could have Ehlers-Danlos Syndrome. How do I check this? Also, should I think about having my daughter tested if +?
Learn and yes:
Check out the following comprehensive and well written site: http://www. Ednf. Org/patient-support
There are many forms of Ehlers Danlos Syndrome, some serious and others less so. Learn as much as you can about your family history and consider any symptoms you may have, then seek expert advice. ...Read more
I come from a family with a lot of hypermobility although there has been no diagnosis of Ehlers Danlos (EDS) yet. What's the likelihood that the rest of my family just has genetic hypermobility, and only I would develop vascular EDS de novo?
Hypermobility: Close to zero but not zero. Any chance your "parents" are not really your "parents"? ...Read more
Mom was disabled by osteoarthritis in her 50's. Multiple spine surgeries. I am 37 w/ OA in lots of joints. Could we have Ehlers Danlos? Worth knowing?
Hard to say: ED has definite features that most docs are familiar with. I would find it hard to believe you could live well into adulthood without someone investigating you both if you fit criteria. It can accompany but is not specific to ED patients. ...Read more
Is their a gene specifically associated with the hypermobile form of ehleres- danlos syndrome? And is it one that is able to be tested?
See geneticist!: Type 3: hypermobility form - ehlers-danlos is caused by an autosomal dominant or recessive mechanism. Mutations in either of two separate genes (which are also involved in vascular eds and tenascin-x deficiency eds, respectively) may lead to this variant. Tnxb sequencing or quantitative serum tenascin-x analysis or testing of eds-associated genes, especially col3a1can be done. ...Read more
A few different docs: Diagnosis is typically clinical and based on exam findings. A medical genetics physician may be helpful in diagnosis if there is concern about an EDS type other than type 3. A physical medicine and rehabilitation physician would be best and helping to coordinate a plan for functional recovery. A rheumatologist would be helpful to look for other causes of joint pain such as an inflammatory disorder ...Read more
Many things!: Ehlers-danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels. There are six major types and at least five minor types of ehlers-danlos syndrome (eds). A variety of gene mutations (changes) cause problems with collagen, the material that provides strength and structure to skin, bone, blood vessels. ...Read more
I'm: Not in Tampa, but there are no specific treatments, although there are some complications treatments available. ...Read more
It may not be: It may not be painful at all. It depends on the type you have and what systems are involved. If your joints are involved and are loose then this could increase their mobility and cause pain. Your evaluation will help explain this. ...Read more
Usually none: The diagnosis is usually made on physical examination. Since it's not something that can be treated with a pill, there's seldom any need to find the exact gene responsible (and there are many different ones that can do it). For the very severe vascular form, a geneticist may confirm this, before or after birth. I know several docs with e-d. Good luck. ...Read more
Big answer: Ehlers-danlos syndrome is a group of diseases with characteristic joint laxity, very lax skin, easy bruising and weakened blood vessels. There are several gene mutations for the various clinical pictures of this syndrome. Beyond that I would suggest you research a more indepth answer online. ...Read more
Disorder of collagen:
Ehlers-danlos syndrome is a common disorder of collagen structure that causes easy bruising and poor wound healing. Patients with this conditions have a soft, velvety skin that is hyperelastic, joins that are lax and they have unusual scarring.
There are 10 variants. The most serious form is associated with rupture of visceral organs. ...Read more
Bone abnormalities: Low bone density from eds can lead to problems healing fractures and have joint pain. Spine deformities such as kyphosis or scoliosis can also occur. Irritiable bowel syndrome and GI disturbances can also be problemmatic. Finally, nerve compression syndromes such as carpal tunnel can occur along with known skin conditions, and blood disorders. Check with your physician to discuss fully. ...Read more
Connective tissue dz: Eds is a connective tissue disease. There are several subtypes based on clinical presentation, extent of disease, the type of collagen affected, and age. The disease is caused by abnormal collagen development. The abnormal collagen is more elastic or stretchy allowing hypermobility. The most common types cause joint hypermobility, skin stretch invests, or blood vessel problems. ...Read more
Genetics: Ehlers-danlos is a genetic condition. There are no other known causes. ...Read more
Skin/joints stretch: In this disorder there is a deficiency of collagen in the body. Problems include skin hyperelasticity (very stretchy) and joint hypermobility ("double jointed"). Also those people affected have fragile skin and blood vessels. There are 6 forms of ehlers-danlos syndrome. ...Read more
No: It is not a known component or complication of either of these two disorders. ...Read more
See a rheumatologist: See a rheumatologist and have the problem evaluated. ...Read more
Need dr. Unafraid to appropriately treat pain associated w/ehlers danlos in 2hr dr. Frm monroe mi. Have supporting ppwk. Please help.?
"Ehlers–Danlos": Ehlers–danlos syndrome (also known as "cutis hyperelastica") is an inherited tissue disorder caused by a defect in the body's synthesis of collagen. Collagen in connective tissue helps tissues to resist deformation. In the skin, muscles, ligaments, blood vessels and organs, collagen plays a very significant role and with increased elasticity or "stretchiness" they may not work right. ...Read more
A few different docs: Medical genetics physician may be helpful in diagnosis if there is concern about an EDS type other than type 3. A physical medicine and rehabilitation physician would be best and helping to coordinate a plan for functional recovery. A rheumatologist would be helpful to look for other causes of joint pain such as an inflammatory disorder. ...Read more
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