Doctor insights on:
Eds In Elderly
Genetic: The only common form of eds is type iii. This is because afflicted individuals rarely reach childhood; and, certainly not adulthood. Eds iii is an autosomally dominant gene which means that 50% of children of the affected person will have the disease; or each child has a 50% risk of developing the disease. ...Read more
Depends: Ehlers danlos is a family of disorders, which has 6 major and several minor types. Given the multiple genes involved, it can be inherited in both autosomal dominant and autosomal recessive patterns, and can even spring from a de novo mutation. Penetrance depends on the type of mutation, and can therefore not be reliably calculated without more information. ...Read more
Not necessarily: Good teaching in joint protection will prevent disability. Fibromyalgia frequently accompanies people with hypermobility without apparent arthritis. I encourage your husband to take care of himself so that he does not become disabled. Living off of disability is a meager existence. ...Read more
Very difficult: True Ehler-Danlos type 4 is characterized by facial changes, translucent skin through which vessels can be seen, easy bruising, and uterine and cardiac problems related to medium and large artery damage. Each event is treatable to some degree, pregnancy is advised against, and some problems require emergency treatment. It is autosomal dominant. With good care one may live long but not normally. ...Read more
Yes.: Both clinical exam and genetic testing needed. A good pediatrician or geneticist are most likely to diagnose this, since presentation is early. I personally would see a geneticist if this diagnosis is in question. The hypermobility of joints leads to accelerated arthritis, ie. Osteoarthritis, and sprains. ...Read more
Older testing: If a comprehensive evaluation is done the people with vascular risk can be determined. The incidence of vascular complications reflects available testing about 15 years ago. With improved testing techniques unanticipated vascular complications are rare without additional risk factors to include smoking. ...Read more
Clinical criteria: It is usually a clinical diagnosis made using a set of clinical criteria; however, there are some genetic tests that can look for some variants of eds. ...Read more
Depends: Would not focus so much on percentages, but instead would present your symptoms to your rheumatologist. Would try to seek out eds centers who understand the condition more than most and have seen a larger volume of eds patients (usually at university hospitals). ...Read more
I've found it impossible to find a dr. That is knowledgeable enough about eds III to help me properly manage it. How can find a dr. That is able to?
Difficult: In reality, there are very few doctors that deal with ehlers danlos. Geneticists are usually the experts in diagnosing this but there is no true treatment. Non-narcotic pain rx and physical therapy to try to strengthen joints are used. Other than that, learning coping skills to live with this bothersome but non-fatal condition is key. Good luck. ...Read more
EDS types: There are 6 major types of eds, they are inherited disorders marked by loose joints, hyper elastic skin that bruises easily, easily enlarged blood vessels. They are called types 1 through 6. A variety of genetic mutations cause problems with collagen, the material that provides strength to soft tissue structures and bone. Collagen typing and gene mutation testing can determine the eds type. ...Read more
Excessive daytime sleepiness is exactly that. People typically will be tired during the day, fall asleep easily during activities that they should not falls asleep and may have a hard time staying awake while driving.
It is also the diagnosis we typically use for patients so that they can qualify for a sleep study when we have concerns about sleep apnea. Sleep studies can be $2-4k tests. ...Read more
Yes: Generally, these are wonderful gymnasts, ballerinas and people who easily dislocate their joints to perform some pretty amazing feats, such as escaping from a strait jacket. However, the price is very high for those who use their flexibilty. They have to retire early from the severe form of premature osteoarthritis that they develop. ...Read more
It depends: There are several subsets of eds as well as a condition known as benign hyper mobility syndrome. Most individuals with eds have relatively mild disease and can expect a normal life span. ...Read more
Tends to be "mild": Most cases and types of eds have fragile skin and joint dislocation as the worst consequenses. However the vascular type can be devestating with spontaneously rupturing blood vessels in multiple organs causing bleeding or bowel rupture. Eds can be confirmed by genetic testing and typed by skin biopsy. ...Read more
Complicated: There are a number of types of eds and they are slightly diiferent diseases based on their individual genetic abnormalities. ...Read more
Collagen: Eds has many different types. In most of its forms, the defect involves some aspect of collagen. Collagen is one of the basic building blocks of connective tissue which is found in all organs, joints and blood vessels. Depending on the exact type of genetic defect, and becasue collagen is found everywhere, there is cross-over in the types of eds with similar manifestations. ...Read more
I am pretty sure that I have EDS are there any tests or things I should do to go about getting a diagnosis?
Consult geneticist: Ehlers-Danlos Syndrome is a genetic disorder with hyper elastic connective tissue and can be inherited recessive or dominant. A thorough exam and history and gene analysis or skin biopsy can confirm diagnosis, as there are 13 different types, and other conditions like Marfan's have similar symptoms. See https://ehlers-danlos. Com/what-is-eds/ for detailed information. ...Read more
"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
EDS has 11 types, all hereditary, all with gene mutations causing problems with collagen in skin, bone, blood vessels. Symptoms include stretchy easily bruised skin, double jointedness, back pain, flat feet, early arthritis, etc.
Lupus, an autoimmune disease, requires 4 of 11criteria. MalarorDiscoidrash, Photosensitivity, OralUlcers, Arthritis, Serositis, KidneyDz, Neurologic Sx's, Blood abn, immunologic, ANA. ...Read more
Mitochondrialsupport: Many enzymatic cofactors necessary for mitochondrial energy production, as well as antioxidants to clear up the free radicals which are produced by the working mitochondria which would otherwise injure them. Cofactors commonly injected include L-carntine (Carnitor)_ and vitamin B12, and a mix inositol, choline, and folate (folic acid). ...Read more
Not common: It depends on the subtype of ehlors-danlos syndrome, but not a common feature except in the most severe subtypes with excessive tissue tears without much trauma. Speak with york physician to see if you have any of those subtypes. ...Read more
Stature and heart: Marfans people are tall, skinny, with valve problems, joint instability, but also have aortic problems. Ehlers danlos has hypermobility, subluxations, but also certain types of eds have tissue fragility, spontaneous pneumothorax, joint subluxation, and has difficulty healing. ...Read more
Yes: Pima indians of the desert southwestern us live where food is scarce. Therefore, a gene that makes food storage into fat very efficient so that they survive the desert. Taken out of the desert, and fed a standard american diet, they will gain weight. Similar genes are certainly present that will soon be described once the human genome is fully known. ...Read more
? Ehlers-Danlos Syn.: The most common pain associated with eds comes from the fact that the connective tissue supporting the joints becomes lax and allows chronic joint dislocations. These people frequently notice they are "double-jointed" but later experience the chronic dislocations. A more serious kind involves blood vessels where they can spontaneously rupture. Eds can also be a limited to the skin. ...Read more
People with eds generally have a normal lifespan. Though, those with the rare vascular type of eds have a high risk of sudden death from organ or vessel rupture.
Heart-related complications can shorten the lifespan of people with Marfan syndrome, though many live into their 60's and 70's (i.e. Normal lifespan) with careful medical management. ...Read more
How come many patients with clinical eds diagnoses do not test positive yet have vascular issues?
No simple test: Eds in one form (vascular eds) can cause weakness of the blood vessels. If the vessel ruptures seriousl consequences can occur. Eds causes a weakness or loss of elasticity which can lead to stretching, ballooning out and eventual rupture. Probably easiest way to diagnose is with ultrasound or ct with contrast. ...Read more
Are there any doctors who specialize in EDS neat the Arcata, Eureka area. Maybe down near San Francisco?
Yes: Any rheumatologist should be able to treat EDS. ...Read more