Doctor insights on:
What Are The Manifestations Associated With Eds
EDS: 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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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
Yes: Ed becomes more common with increasing age. However, other factors play a role and are certainly more controllable. Not smoking, and controlling blood sugars and blood pressure will help symptoms of ed. Also, exercising will increase blood flow and decrease symptoms of ed. ...Read moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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