Ehlers-Danlos Syndrome (EDS, Elastic Skin)

by Brian Alverson, MD

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    00:01 So, let's switch gears now to Ehlers-Danlos syndrome.

    00:05 Ehlers-Danlos syndrome is also a connective tissue disorder and it's characterized by hyperextensibility, connective tissue fragility, and a delay in wound healing.

    00:17 These patients also have a collagen mutation and the type of Ehlers-Danlos they have, there are many types, varies differently depending on the location or the nature of the mutation in their collagen gene.

    00:33 So, about 50% of patients with Ehlers-Danlos have a parent who is affected.

    00:40 There's about a 50% inheritance risk, but many people are unaware that they have the diagnosis, especially patients with benign hypermobile type.

    00:49 That's the type where they're very flexible, perhaps they can do an interesting party trick like dislocate their shoulder or step through their hands and bring them around the top again, but the reality is, they have the disease.

    01:03 So, characteristic of this disease is that they have hypermobile joints.

    01:08 They should be able to bend their thumb all the way back to their wrist, or they can hyperextend the finger like you can see here.

    01:15 These patients have an increased risk of dislocations and subluxations of their joints.

    01:21 In many cases, they have stretchy, fragile skin, as you can see this person with their elbow.

    01:28 They have increased skin, increased tissue, and increased vascular fragility.

    01:34 So, how do we diagnose Ehlers-Danlos syndrome? Well, it's based entirely on clinical exam.

    01:41 There really is no available genetic test. It's too complicated to test for.

    01:45 So, we use the Beighton score. A Beighton score of more than 5 argues this patient may have Ehlers-Danlos, and the higher the score, the more likely.

    01:56 We also get a baseline echo to rule out any aortic dilatation.

    02:00 So, what is the Beighton score? Well, you get 1 point if while standing forward and bending down, you can place both palms on the ground with your legs straight.

    02:11 They're very flexible.

    02:12 You get 1 point for each elbow that bends backwards while extending.

    02:17 You get 1 point for each knee that bends backwards while extending it as far as you can.

    02:23 You get 1 point for each thumb that touches the forearm when bent backwards, like that, I can't do it, and you get 1 point for each little finger that bends backward beyond 90%.

    02:36 So, when you add them up, you get a maximum of 9 points.

    02:41 The more points, the more likely you are to have the disease.

    02:44 So, how do we treat these patients? Well, generally we encourage low-resistance and small weight-bearing exercise.

    02:51 So, low amounts of weights with frequent reps.

    02:54 We recommend calcium and vitamin D supplementation to maximize their bone density.

    03:00 We encourage them to avoid high-impact and contact sports as they're more likely to have dislocations and traumatic experiences.

    03:07 One of the key things we recommend which is sometimes hard for people to do, especially the benign hypermobile types, is avoid demonstrating party tricks.

    03:17 It may be cool that you can bend your thumb backward or that you can walk through your hands or that you can do these cool tricks, don't do it.

    03:25 Because what happens over time is the more party tricks you do, the more likely you are to build up an irritation in that joint and result in a long-term osteoarthritis.

    03:36 So, these patients can get osteoarthritis in affected joints down the road when they're adults.

    03:41 So we encourage them to not do their party tricks.

    03:43 Sometimes we will do other things as well.

    03:48 Occasionally, patients with Ehlers-Danlos, depending on the type, have different risks.

    03:53 One thing we will sometimes do is we will do clotting studies and a platelet function assay on these patients.

    04:00 The reason is, is not that we suspect they have platelet function disorders, but rather that we don't make the diagnosis clearly because it's such an unclear diagnosis to make and these patients do bruise frequently and sometimes we might think that they have an underlying bleeding disorder or something else going on that might be the reason why they have bruising.

    04:21 So, you often see people do this before they've established the diagnosis of Ehlers-Danlos to rule out a bleeding disorder.

    04:28 Because they bruise easily, we do recommend they avoid aspirin and we give them pain management.

    04:34 Sometimes patients with benign hypermobile type have a lot of pain in their lives and we have to encourage them through that and sometimes encourage help from a palliative care physician.

    04:44 We do refer these patients to support groups for other people who have Ehlers-Danlos.

    04:50 The other thing is, suturing up deep cuts may be problematic and cause further bleeding and the sutures can break through the tissue.

    05:02 So, we generally will prefer to glue their lesions than we are to suture them up.

    05:07 So, that's my review of both Marfan syndrome and Ehlers-Danlos syndrome.

    05:12 Thanks for your time.

    About the Lecture

    The lecture Ehlers-Danlos Syndrome (EDS, Elastic Skin) by Brian Alverson, MD is from the course Pediatric Genetics.

    Included Quiz Questions

    1. Dermabond (glue)
    2. Simple interrupted sutures
    3. Vertical mattress sutures
    4. Horizontal mattress sutures
    5. Referral to a subspecialist
    1. Early wound healing
    2. Increased risk of joint dislocation
    3. Increased vascular fragility
    4. Stretchy skin
    5. Family history is usually positive
    1. Aspirin is most important medicine in this case
    2. Pain management
    3. Clotting studies
    4. Glue for deep cuts
    5. PFA
    1. He is more prone to the disease and need echo
    2. He is not having any disease
    3. He need further follow up without medication
    4. No further investigation required
    5. Re-calculate the Beighton score

    Author of lecture Ehlers-Danlos Syndrome (EDS, Elastic Skin)

     Brian Alverson, MD

    Brian Alverson, MD

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