Why were we assured that my son only had Ehlers-Danlos, not Marfan's?

[quintby]

After my son suffered a spontaneous pneumothorax (deflated lung) while at college his doctor there did some preliminary examinations and suggested to him that he look into learning whether he might not have Marfan's Syndrome.  Wanting for my son to be able to put the issue to rest or deal with it head-on I brought to the Marfan Syndrome Center at Stanford University Med School.  There he underwent a series a tests over one afternoon and when the results were revealed to us we were advised that they did not belief that he had Marfan's Syndrome. Phew.  But then the said something I did not understand the significance of, and that was that they thought that he DID have a mild rendition of Ehlers-Danlos Syndrome.

My recollection is that the condition was described as being sort of a benign and milder version of Marfan's, benign meaning in my mind that it did not hold the possibility of cardiac or aortic dissection, etc.  However, after taking some time recently to relook at what we'd been told (5 years ago) I've seen very much the same potentially fatal problems listed for Ehlers-Danlos as I recall there being with Marfan Syndrome.

Can someone provide me with some perspective here before I sit my son (not 24) down to talk to him about what I've learned that does not seem to square with what we were told at Stanford. And I worry that in the relief of the news about the negative call on Marfan's that I might have discounted what we were actually told about ED at Stanford.  Thatnks

[selmaS]

HI and welcome to the EDS group.

I have listed info on the 2 types of EDS below.



Hypermobility (Formerly EDS Type III)
Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement (hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.

Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited.

To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.

Frequently Asked Questions about Hypermobility Type
Classical (Formerly EDS Types I & II)
Marked skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruisability. Examples of tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead and chin. Molluscoid pseudo tumors (calcified hematomas) associated with scars are frequently found over pressure points such as the elbows, and spheroids (fat containing cysts) are usually found the on the forearms and shins.

Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints. Muscle hypotonia and delayed gross motor development may also be evident.

Clinical Testing - Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V has been detected in several but not all families with the Classical Type. The Classical Type of EDS is inherited in an autosomal dominant manner.

[Motherhen84]

What if you have EDS 11 or 111 can you tell me about that?

[selmaS]

HI...I am here to agree with cowfd in that u need more info b4 u panic....but, u were right to continue to push for answers.

Since there r several types of EDS, it is best to be seen and determine which type ur DS has.

There r some things he may want to avoid doing until he knows for sure...nething that stresses his joints ...lifting weights....would be one.....again, it all depends on which type he has as to what activities are best to avoid....

There r rheumatoid drs that specialize with EDS...see if u can locate one in ur area to help.

[cowfd]

I guess the first thing you need to consider is what kind of EDS? Did they tell you at the time what type he has? (I, II, III etc.) The severity  of the toll on his life is drastically different between the different types. There is EDS with cardio involvement - this of course can have deadly consequences and should be regularly monitored. There is the hypermobile type (like me) that can have horrifying effects on your joints, but is less life threatening in the typical way - although there can be life threatening issues, the types are varied with the form you have. There are people with EDS that have skin involvement and that can become very painful, but in itself is not life threatening (although other issues can be)

You unfortunately need to start at square one - Which form of EDS does he have? When you have this answer, the rest is easier to understand.

Either way, you need to gather the information and speak with him, because no matter which one he has, he needs to have certain tests done regularly (usually annually) that he wouldn't normally get at his age, just to be proactive.

I'd be glad to give you more information when you find out which one it is - I'd hate to fill you up with lots of info that doesn't apply to him.