Do i have EDS

I have always had this creeping suspicion that i have EDS. One of my pupils is off - the one on my right. It's very slight, but my girlfriend can notice it. I can dislocate my shoulders:

Here's a picture:
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That's it dislocated

Here's it normal:
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Note:I can do this with both shoulders.


Also, my elbow has always made a crunch sound, and hurts sometimes. I have normal mobility in all my joints though - I can't hyper extend it.
I have also been diagnosed with a hiatal hernia. Which doesn't bother me too much. I have always been excessively skinny. I'm 6'3 and only weigh 135. Although before i got terribly sick with the stomach flu i was 155.
Here's pics:
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As you can notice, my body is slightly slanted. I don't have scoliosis, but my right rib cage i think is slightly bigger.

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And my skin is kinda stretchy.
Here's another pic:

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My doctor thinks i'm fine, but i disagree with him. I want to ask if i can get tested, but i don't think he'll let me. I asked him about marfan symdrome because i thought i had that, and he said i was fine.
I have no family history of a connective tissue disease, which makes it harder to get tested.

Please, no immature comments about how i look grotesquely skinny, or if i'm ugly. I just want help.

Thanks for reading and for any help!

Edited April 12, 2013 at 7:38 pm

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Hello Sourpatchkid and welcome!

This is not the kind of group that would ever say someone is too skinny or ugly...unless they say it about themselves ;-) I, for instance, am "grotesquely skinny" and so was actually surprised you felt yourself to be as theat is not what I see looking at your pictures.

Since there is not "a look" for EDS, it is not really possible to say you have EDS from pictures. HOWEVER, you know and I know that dislocating your shoulders on command (which you need to stop doing!!!!!!) is not "normal". And, yes, the picture of your skin stretchiness seems beyond "normal" (not that I am really certain what "normal" is as I have EDS-Hypermobility type). So combined with those, your hernia could also be indicative of EDS (or not). I do feel you have enough indicators to be properly assessed whether or not you have it.

Do you have to have a referral from your PCP to go to a specialist like a genetecist? If not, then go get assessed without your PCP's blessing. If so, then you need a new PCP that will take this seriously.

In the meantime, I would like you to contact the Oregon EDS support group to find out who in your area is best to go to for examination and possible diagnosis. http://oreds.org/

Gentle hugs...

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Welcome :)
SASO is right..this group is *not* the type that would make inane or bullying type of comments..we will however, be happy to try to help you by answering questions (if we can :) and try to encourage you to be okay with 'who' you are...EDS...no EDS ...whatever...
you will likely learn other things which you 'may' have in common that could indicate EDS or not...
This a nice warm and welcoming group, glad you joined us :)

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Welcome,

Yeah, we are definitely not here to judge or dismiss one another. And I agree with SASO you do not look "grotesquely skinny" by any means. If someone is telling you that you need to find new somebodies to talk to. SASO gave you some great info to start with, since we cannot diagnose you... but with the signs you are exhibiting you PCP is being stubborn... even stupid to not at least refer you to a geneticist who is better equipped to make a diagnosis than he is. You may also find that your other joints ARE hypermobile, you just don't realize it compared to your family, etc.

Good luck!

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Oh, and up to 25% of connective tissue disorders are a brand new mutation with no family history.

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Thank you guys for replying!
I will try talking to my doctor again about my symptoms. Maybe this time i will mention a geneticist.
Is this hypermobility: http://qw88nb88.files.wordpress.com/2008/05/thumb-to-forearm.jpg
I can do this with both thumbs. I have to try very hard, it and hurts a bit. But i can touch my thumb to my wrist on command, with both of them!
I've also been having sharp pains in my diaphragm after sneezing. Can you tear the ligament further that holds the stomach by sneezing?
Thanks for your help an support guys!

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Hi Sourpatchkid,

Yes, the thumb to the forearm "skill" is part of the Beighton Score...which is one part of the diagnostic criteria for EDS: the Beighton Score http://www.hypermobility.org/beighton.php

You can read about the diagnosing criteria for each type here:

EDS TYPES - DIAGNOSTIC CRITERIA

Classical Type

Major diagnostic criteria

*skin hyperextensibility
*widened atrophic scars--(manifestation of tissue fragility)
*joint hypermobility

Minor diagnostic criteria

*smooth velvety skin
*molluscoid pseudotumors
*subcutaneous spheroids
*complications of joint hypermobility (sprains, dislocations/subluxations, pes planus, etc.; Beighton and Horan, 1969)
*muscle hypotonia, delayed gross motor development
*easy bruising
*manifestations of tissue extensibility and fragility (e.g., hiatal hernia, anal prolapse in childhood, cervical insufficiency) [Steinmann et al., 1993]
*surgical complications (post-operative hernias); [Beighton and Horan, 1960, Steinmann et al., 1993]
*positive family history

Special comments

1. The skin manifestations range in severity; families with mild, moderate and severe expression have been described (Table).

2. Molluscoid pseudotumors are fleshy lesions associated with scars. They are frequently found over pressure points (e.g., elbows).

3. Spheroids are small subcutaneous spherical hard bodies, frequently mobile and palpable on the forearms and shins. Spheroids may be calcified and detectable radiologically.

3. Recurrent joint subluxations are frequent in the shoulder, patella, and temporomandibular joints.

4. Dyspareunia and sexual dysfunction are occasional complaints in the Classical and other types of EDS [Sorokin et al., 1994].

5. Fatigue is a frequent complaint.

----------

Hypermobility Type

Major diagnostic criteria

*Skin involvement (hyperextensibility and/or smooth, velvety skin)
*Generalized joint hypermobility

Minor diagnostic criteria

*recurring joint dislocations
*chronic joint/limb pain
*positive family history

Special comments

1. Skin extensibility is variable. The presence of atrophic scars in individuals with joint hypermobility suggests the diagnosis of the Classical Type.

2. Joint hypermobility is the dominant clinical manifestation. Certain joints, such as the shoulder, patella, and temporo-mandibular joints dislocate frequently.

3. In rheumatologic practice, large numbers of patients present with generalized joint hypermobility [Beighton et al., 1983]. It is important to distinguish these individuals from those affected with the Hypermobility Type of EDS. There is considerable debate as to the causal interrelationships, if any, between the phenotype in such persons, and that of the Hypermobility Type of EDS.

4. Musculoskeletal pain is early in onset, chronic, and may be debilitating (Sacheti et al., 1997). The anatomical distribution is wide and tender points can sometimes be elicited. A tender point is defined as an area that, when palpated with the thumb or 2 or 3 fingers will be painful at a pressure of 4 kg or less [Wolfe et al., 1990].

----------

Vascular Type

Major diagnostic criteria

*Thin translucent skin
*Arterial/intestinal/uterine fragility or rupture
*Extensive bruising
*Characteristic facial appearance

Minor diagnostic criteria

*Acrogeria
*Hypermobility of small joints
*Tendon and muscle rupture
*Talipes equinovarus (clubfoot)
*Early onset varicose veins
*Arteriovenous, carotid-cavernous sinus fistula
*Pneumothorax/pneumohemothorax
*Gingival recession
*Positive family history, sudden death in (a) close relative(s)

Specific comments

1. Facial appearance is characteristic in some affected individuals ( Fig 1). There is a decrease in the subcutaneous adipose tissue, particularly in the face and limbs.

2. Joint hypermobility is usually limited to the digits.

3. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life but may occur earlier. Midsize arteries are most commonly involved. Arterial rupture is the most common cause of sudden death [Pepin et al., 1992].

4. Acute abdominal and flank pain (diffuse or localized) is a common presentation of arterial or intestinal rupture and should be investigated urgently. Non-invasive diagnostic procedures are recommended.

5. The subcutaneous venous pattern is particularly apparent over the chest and abdomen.

6. In the presence of severe bruising as an initial complication, child abuse and/or hematological disorders need to be considered. In the context of chronic bruising and abnormal scar formation, differentiation from the Classical Type of EDS is necessary.

7. Diagnosis of this condition is difficult in children in the absence of a family history.

8. Pregnancies may be complicated by intra-partum uterine rupture and pre- and post-partum arterial bleeding. Vaginal and perineal tears may be sustained during delivery.

9. Complications during and after surgery (e.g., wound dehiscence) are frequent and severe.

----------

Kyphoscoliosis Type

Major diagnostic criteria

*Generalized joint laxity
*Severe muscle hypotonia at birth
*Scoliosis at birth, progressive
*Scleral fragility and rupture of the ocular globe

Minor diagnostic criteria

*Tissue fragility, including atrophic scars
*Easy bruising
*Arterial rupture
*Marfanoid habitus
*Microcornea
*Radiologically considerable osteopenia
*Family history, i.e., affected sibs

Specific comments

1. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. This condition should be considered in the initial differential diagnosis of a floppy infant [Wenstrup et al., 1989; Steinmann et al., 1993].

2. The phenotype is most often severe, frequently resulting in loss of ambulation in the second or third decade.

3. Scleral fragility may lead to rupture of the ocular globe after minor trauma. The condition should be differentiated from the brittle cornea syndrome [Royce et al., 1990]. It is now apparent that serious eye complications are much less frequent than previously thought [Wenstrup et al., 1989; Steinmann et al., 1993], hence the change in the descriptor of this type .

4. The severe neonatal form of Marfan syndrome should be considered in the differential diagnosis.

5. There have been reports of a less severe form of the condition with normal activity of lysyl hydroxylase and a normal hydroxylysine content in the dermis (OMIM # 229200); this form is even rarer.

----------

Arthrochalasia Type

Major diagnostic criteria

*Severe generalized joint hypermobility with recurrent subluxations
*Congenital bilateral hip dislocation.

Minor diagnostic criteria

*Skin hyperextensibility
*Tissue fragility, including atrophic scars
*Easy bruising
*Muscle hypotonia
*Kyphoscoliosis
*Radiologically mild osteopenia

Special comments

1. Congenital hip dislocation has been present in all biochemically proven individuals.

2. Short stature is not a manifestation, unless it is a complication of severe kyphoscoliosis and/or hip dislocation.

3. Larsen syndrome should be considered in the differential diagnosis.

-----------

Dermatosparaxis Type

Major diagnostic criteria

*Severe skin fragility
*Sagging, redundant skin

iii) Minor diagnostic criteria

*Soft, doughy skin texture
*Easy bruising
*Premature rupture of fetal membranes
*Large hernias (umbilical, inguinal)

Special comments

1. Skin fragility and bruising are substantial. Wound healing is not impaired and the scars are not atrophic.

2. The redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa.

3. The name was taken from a similar phenotype and biochemical defect previously recognized in cattle, sheep and other animals.

4. The number of patients reported is small and the phenotypic spectrum might expand.

----------

Other Types of the EDS

The previous EDS type V (X-linked) was described in a single family [Beighton and Curtis, 1985].

The previous EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability [Stewart et al., 1977]. This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.

EDS type IX was redefined previously as "occipital horn syndrome", an X-linked recessive condition allelic to Menkes syndrome (OMIM # 309400) [Beighton et al., 1988].

The previous EDS type X was described in one family only [Arneson et al., 1980; for comments, see Steinmann et al., 1993].

The EDS type XI termed "familial joint hypermobility syndrome" was previously removed from the EDS classification [Beighton et al., 1988]. Its relationship to the EDS is not yet defined.

The pain you are feeling in your diaphragm is hard to say what is going on over the internet. I suppose it is possible to be ligament-related, but it could also be issues with ribs subluxing, spasms in your bladder, and a myriad of other things...all common in EDS. So that symptom needs some more description and/or investigation to be able to help you. (other than the obvious...so try not to sneeze :-)

Gentle hugs...

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so FYI, you couldn't have a better encourager and source of info and suggestions than from SASO... :)
please do inform yourself...request (tho' in my case I pretty much insisted on getting a referral to a geneticist, being as I felt I had the right to rule it in...or to rule it (the EDS diagnosis) and the why of these various things that were happening, ...out)...
you may want to consider making a post (to Members) requesting if anyone has seen an EDS knowledgeable Geneticst near your area, and if so..don't hesitate to request that your Dr. refer you to <that> geneticist..not all of the (geneticists) are EDS familiar...even if you have to travel a bit it would likely be worth it...so you don't have to risk a possibly incorrect diagnosis...and then possibly need to find another one anyway...it is worth the inquiry....also be aware that there is usually a bit of a wait time to see geneticists...

Meanwhile it is good to use the search bar (just below the pic of the zebra) to type in certain topics you may want info on...like how to prepare for a geneticists appointment..they do like to have relevant family histories (ie: if you have or had a relative who may have exhibited some'of the EDS characteristics etc...they do like a physical demonstration of ROM (range of motion) and the EDS diagnostic abilities...there have been recent discussions on what to do when seeing a geneticist for the first time...(but it is 4:20. am or I would try to look it up for you, maybe someone else can offer the titles of these discussion threads....

Also, may I suggest that you not continue to do thumb to wrist and other 'tricks' repeatedly or unneccessarily as you are young and are wayyyy ahead of the game in trying to prevent or at least minimize many,many potential future problems that can be exacerbated by repetitively doing EDS 'party tricks'...this really truly is one time to listen to those who have 'been there, done that' ...not like a parental scolding...but *genuinely* a knowledge and caring concern and wish to see another person avoid as much potential suffering as possible...
you have much support here..and we want the best for you :) :)

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Two thoughts - 1) can abdominal pain come from EDS - of course - that was one of the chief complaints of my daughter and the one that led us to the EDS dx at the end of last year. There are many ligaments that hold your digestive system "in place" - and there can be a significant amount of "pain" from that region of the body as well. And based on what you've said and shown in the pictures - you are meeting some of the common criterion for diagnoses. 2) One of the "issues" with EDS is anxiety - the question "why am I this way" prior to a diagnoses is stressful. Your PCP should be willing to refer you to a specialist if, for no other reason, than to help relieve this anxiety. Our daughter "feels better" just knowing there's a "reason" that she feels they way she does. OK - that's unique to her - but I'll bet that's a "feeling" that's shared by many others!

Finally - you can always change doctor's. If you were unhappy with a plumber or the person that fixes your car you'd changed companies right? Same applies to doctors!

hang tough - aus

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I had to send my records to OHSU for a relative. In the process of this being done I talked repeatedly to their genetics department. They seemed very nice, helpful and knowledgeable.

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