Doctor insights on:
Ehlers Danlos Syndrome
Usually - one type: There are a variety of types as you note and most of the time this is the benign hypermobility type. It is genetic and you may have relatives also wiht it. Each type can have a variety of manifesations and so people with the same type can have different symptoms. Exercise is an improtant stabilizer and you need to be doing this. Read moreSee 1 more doctor answer
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
From 0 to 50%: Ehlers-danlos syndrome (eds) is a group of inheritable disorders. There are two different inheritance patterns of eds, autosomal dominant and autosomal recessive. If you have the dominant type, there's a 50% risk of eds in your child. If you have the recessive type, eds can only occur if your partner also carries the recessive gene. A genetic counselor is needed to tell you your exact risk. Read more
I have just been diagnosed with ehlers-danlos syndrome (joint cartilage) so should I stop playing sports?
Not completely.: Your condition also is associated with hypermobilty of tendons and ligaments. While I think you should avoid contact sports, impulsive sports (tennis, basketball), you can bike, swim, do resistance training and keep your health in the best it can be. 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
Genetics: Ehlers-danlos is a genetic condition. There are no other known causes. Read more
Cispr can edit our geno dna. Does this mean they could cure ehlers danlos syndrome by editing the faulty collagen to normal? How amazing?
Gene therapy: Crispr (clustered regularly interspaced short palindromic repeats) is an an immune strategy that bacteria use to detect and chop up foreign dna. By introducing the enzymes responsible for this process into human cells, genetic engineering can be performed. Treating a disease using this technology will be quite challenging, but I have no doubt this will eventually make it into clinical trials. Read moreSee 1 more doctor answer
Do we need to report ehlers-danlos syndrome as a long-term health condition, or does it go away after being treated? My teen is getting ready to go to college.
Yes: If your kid has ED it does not go away. The variable expression of this connective tissue disorder means some are milder than others but the potential for health issues lasts a lifetime. A simple summary of how this disorder has effected your son should help any college health service know at what point to contact you or specialists. Read moreSee 2 more doctor answers
Treat symptoms: While there is no cure for this inherited disorder, it is worth determining which of the 6 types the affected person has. This may guide the needs for cardiac evaluation for valvular or vascular problems, eye exams for vision problem such as lens dislocation, or high-risk obstetric care. Read moreSee 1 more doctor answer
Not well known: The inheritance pattern is variable. In the more common eds type3 (hypermobility type), the inheritance is autosomal dominant meaning 50% of offspring would be expected to have it. Rarer forms like the vascular type is less predictable. If you have a parent who died of aortic dissection, you should be checked yourself with an echocardiogram. Read moreSee 1 more doctor answer
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
I would like advice on ehlers danlos syndrome and chronic pain I have so much pain I am finding it hard not to think of killing myself I can't cope!
Ehlers-Danlos syndro: If over-the-counter pain relievers — such as Ibuprofen (advil, Motrin ib, others) and Naproxen (aleve) — aren't enough, your doctor may prescribe stronger medications for your joint or muscle pain.Have your doc help with keeping your blood pressure low. Exercises to strengthen the muscles around a joint can help stabilize the joint. There are specific braces avail to help prevent joint dislocations. Read more
Yes it can: Because of the tendom laxicity, joints may not be as stable as normal joints. That can lead to increased risk of osteoarthritis particularly in larger joints such as the shoulder, hips, and knees. There may also be complications of chronic joint dislocation and chronic pain. The disease itself should not lead to any specific inflammatory diseases such as lupus or ra. 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
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