Article - EDS Diagnosis Explained in lay Terms

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EDS Diagnostic Explanation

By

Maggie Buckley

Hi. For those who don't know me, my name is Maggie Buckley and I have

Hypermobility Type EDS. I live in California, am married, no children,

formerly worked as a Business Manager & Controller for a Photo Lab. My

training is in Social Work, Business and Accounting - no formal medical

training. I was diagnosed with EDS when I was 13 years old by a doctor who

had it - merely coincidence that he was the Orthopedist on call when I went

to the ER with some dislocations. Thus, for 25 years I have been studying

EDS and have done what I can to stay current with what is going on as far as

EDS research.

Recent information posted to the list about EDS diagnostic methods has

likely been kind of confusing for some of the newbies. So, try this

explanation on for size.

Currently, there are not any DNA tests or blood tests available for EDS

diagnostics. These types of tests are in the early research phases and have

not been found to be reliably accurate compared to the clinical presentation

of symptoms. Researchers believe (and I hope) that these test will be

available for Classical EDS within the next five years. The tests for

Hypermobility type EDS are a couple of years beyond that.

The skin biopsy will confirm or rule out the Vascular type, but it is not

the sole (or gold standard) method of diagnosing this type.

The symptoms of Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis types of

EDS are so profound that these types of EDS are usually diagnosed in early

childhood if not infancy. A urine test is available to confirm or rule out

the Kyphoscoliosis type. Skin biopsies are used to confirm or rule out the

Arthrochalasia and Dermatosparaxis types of EDS.

Diagnosing EDS and differentiating between types is not a precise science.

The doctor doing the evaluation has to look at all of your symptoms and

compare them to the major and minor diagnostic criteria of the different EDS

types as well as other diseases and disorders. Bear with me here and I will

try to explain it in simple terms. (For those of you familiar with it, here

comes the " poker chip analogy. " )

First of all, keep in mind that EDS is a " Syndrome " or a group of disorders

that share a core group of symptoms. The core group of symptoms of EDS

include joint hypermobility, skin hyperextensibility, vessel fragility, and

organ fragility. Each of us with a diagnosis of EDS displays these symptoms

to some degree of another with a range of severity. Keep an open mind here.

I can hear some of you saying " I don't have loose joints, " or

" hyperextensible skin " or " fragile vessels or organs. " Trust me, most of us

are unaware of the subtle differences between " normal " range of motion in

joints and " hypermobility " in joints. It is part of the learning process we

go through as we accept the diagnosis and build up our armory of coping

mechanisms.

Imagine if you will that the doctor has 7 different colors of poker chips in

two different sizes. The different colors represent the 6 different types of

EDS and one " non-EDS " category. The doctor will pore through your medical

history, family history, and clinical records and compare that information

with the major diagnostic criteria (large poker chips) and minor diagnostic

criteria (small poker chips) as presented in the 1997 Ville Franche

Nosology. (The most recent Nosology, or description of EDS.)

The point where most people get confused is that there is not a clearly

drawn heavy black line of the types. In fact some symptoms appear in more

than one type of EDS. So, while the doctor will give you a large green chip

for hypermobility of the fingers to represent it as a major of the

hypermobility Type of EDS, you will also be given a small blue chip for this

symptom as a minor diagnostic criteria of the vascular type, and a large red

chip as a major diagnostic criteria of the classical type. Similarly, for

easy bruising, you will get a small red, a small green, and a large blue.

Since we have a shared set of core symptoms (think " Syndrome " ) we will all

have symptoms of more than one type of EDS. Thus, we will each receive poker

chips of more than one color.

The doctor must laboriously go through all of the criteria and the details

of your medical records doling out these poker chips. At the end of the

process the poker chips are tallied by quantity and/or weight per color. The

pile that is largest is the diagnostic " label " that you are given as far as

which type of EDS you have. NOBODY with a diagnosis of EDS fits neatly into

a single Type's description. Yet, everybody with a particular type of EDS

has a distinct type of EDS distinguished from the other types. There is no

such thing as having more than one type or " overlapping " types or one type

with an " overlay " of another type. When a doctor uses the words " overlap " or

" overlay " in describing an EDS diagnosis they are simply trying to

communicate the " Syndrome " characteristic of EDS.

It is possible to have Classical EDS and not have widened atrophic scars,

for example. It is also possible to have Hypermobility EDS and to have

widened atrophic scars, pseudotumors, organ ruptures, recessive gums, and/or

muscle hypotonia.

With the way that EDS research has gone for the last 100 years and how it is

headed, I believe that we will see more accurate diagnostic criteria which

leads to some types being " spun off " as distinct disorders of their own and

other types being combined into a single type. Keep in mind that we also

share many symptoms that are considered to be major or minor diagnostic

criteria for Marfan Syndrome, Lupus, Scleroderma, Diabetes, Osteogenesis

Imperfecta, and lots of other even more rare things.

So, after all that there are two questions that are most often raised:

How can the doctors treat me if they don't know what type I have?

Each EDS affected individual needs to have an individualized treatment

program developed which addresses the severity of their particular symptoms.

For example, a responsible physician will consider a diagnosis of any type

of EDS as enough of a risk to require extra precautions in surgery for any

eventuality of rupture or tissue fragility. Yet that approach will be

tempered by a conservative treatment approach that seeks to do no further

damage or harm.

Is it absolutely necessary to pursue a diagnosis by type?

As humans we all seek to classify and categorize everything in our lives in

order to understand it. Typing of EDS is a personal choice, it is not

mandatory. Typing of EDS can affect your insurability status both favourably

or negatively. All of the ramifications of the decision should be

considered. Will typing save your life? Maybe. Will typing define a

treatment plan more clearly for you? Maybe. Will it change what is in your

heart or what you are passionate about? Most likely not. Will it change who

you are? Only if you choose to change as a result of getting a type or not

getting a type.