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Diagnosing Hypermobile Ehlers Danlos Syndrome

A stethoscope on a wooden table with the words "Hypermobile EDS getting a Diagnosis"

Getting a diagnosis of Hypermobile Ehlers Danlos Syndrome can be challenging. There are many types of Ehlers Danlos. Geneticists have been able to isolate genes for some types of EDS, but a gene has not been identified yet for hypermobile EDS.

The Ehlers Danlos Society has a diagnostic checklist form available to clinicians to help standardize the diagnosis process. It is not something however that is part of standard entry level education for most healthcare providers. To make matters more complicated, some of the criteria fall under different medical specialties, so individual providers can't always make a diagnosis without consulting other specialists. As a result, patients may have to invest significant time and travel into finding a healthcare provider who can make the diagnosis. In light of this added stress in addition to the financial expense of healthcare, it's wise to at least look at the checklist yourself prior to going to the doctor.

In this article we'll take a look at the diagnostic checklist step by step. Keep in mind that this article is not intended to replace individual medical advice from a licensed healthcare provider. It is simply intended to provide education to patients who are trying to decide if they should seek out a diagnosis.


Contents:


Criterion 1: The Beighton Scale


Criterion 1 of the EDS diagnostic checklist form
Image Credit: Ehlers Danlos Society Diagnostic Checklist

The Beighton scale is a series of movements used to assess for joint hypermobility in multiple joints. There are a total of 9 points possible, and the number of points required to diagnose EDS depends on the patient's age. This is intended to account for the fact that our joints and connective tissues will typically stiffen naturally as we age.

The first movement test is for finger mobility. The patient is instructed to pull their pinky back into extension as shown in the image. Normal extension range of motion for this joint is typically quoted at 30-45 degrees. People with hypermobility can achieve a larger range of motion because their ligaments don't place as much restriction on the joint movement. You can receive one point for the mobility of the pinky on each hand.

A comparison photo of a pinky finger in hyperextension

The second movement involves bringing the thumb to the wrist. If the thumb can touch the wrist, a point is granted. Again, the patient can receive one point for each hand.

A photo of a thumb pulled down to touch the forearm

The third test is for elbow mobility. When straightening out the elbows, normal range of motion is quoted at about 0-5 degrees. For people with hypermobility disorders, the elbow hyperextends, as shown below. A person can receive one point for each elbow.

A comparison photo of an elbow in hyperextension

The fourth movement is extending the knees. Normal knee range of motion is considered 0 degrees of extension at the knee, though some sources consider up to 5 degrees to still be considered normal. To qualify for knee hyperextension, the measurement should be greater than 5 degrees. One point can be received for each knee.

A comparison photo of a knee in hyperextension

The final test is to stand with the knees straight, while bending down and placing your hands flat on the floor. This is worth one point and suggests hypermobility of the spinal ligaments.

A photo of a girl with the knees extended, bending over and placing the palms flat on the floor

As an aside, some patients have comorbid conditions that can skew these test results. For example, the position of forward bending used to test for spinal ligament mobility, also puts an increased tension on the sciatic nerve. Some patients are limited by pain in the back of the legs, rather than a lack of mobility when performing this test. Others have a mobility restriction from a history of an injury. Perhaps a past injury such as a broken finger that did not heal well could be limiting their mobility.

Unfortunately, many patients go years without a diagnosis. Other injuries happen throughout their lifetime that can skew the testing, and most people's joints will naturally stiffen to some degree with aging. As a result, in creating the diagnostic criteria, additional questions were added so that older patients, can still be included if they would have met the criteria when they were younger.



Criterion 2: Other Signs, Family History, and Pain


Criterion 2 of the EDS diagnostic checklist form
Image Credit: Ehlers Danlos Society Diagnostic Checklist

This criteria is broken into 3 categories, A, B, and C. A person must meet two of the three categories in this section to qualify for an Ehlers Danlos diagnosis. We will spend most of our time talking about category A, because it is the most complex. However, considering B and C first may be helpful, because category A requires more medical testing, and most likely will involve working with multiple medical providers to order and evaluate the appropriate tests. If a person does not meet the criteria for B or C, pursuing diagnostic testing from category A may not be indicated.


Category B: Family History

Category B is the most straight forward, asking if a first degree relative has been diagnosed with EDS. This means having a parent, sibling, or child who have already been diagnosed. For many patients however, they are the first in their family seeking a diagnosis. They may be aware of a parent who was hypermobile, but that person was never formally diagnosed. Most patients receiving diagnosis meet the qualifications based on parts A and C.


Category C: Pain And Dislocations

Category C is also fairly straight forward, in that, it can typically be rated by self-report. A person only has to be able to claim one of the three statements is true to meet this criterion. Health care providers will ask their patients where they experience pain, and how long it has been going on. Many patients seeking diagnosis can truthfully check one of the first two boxes.

The healthcare provider will also ask about a history of joint dislocations. To qualify for this point, it's important to recognize your doctor is looking for a pattern, and not an isolated incident. A child who dislocated an elbow one time, falling off of a bunk bed from considerable height, wouldn't qualify. The criteria specifically states that the dislocations have to occur in the absence of trauma, and they have to be recurrent.

Some providers will take more liberty in interpreting this question than others. It is a judgement call to decide if the trauma that occurred would reasonably have caused a dislocation or not. A child who fell out of a standard height bed and dislocated their elbow, may be seen differently than a child who fell off the top bunk.

This criterion also notably gives some room for interpretation as to what qualifies as "frank joint instability". There are some people with hypermobility that experience what are called subluxations. Rather than completely dislocating the joint, in a subluxation, the joint pops out of place and then slips right back into place on its own. Some providers will consider that sufficient for this criterion to be met while others will not.

Category A: Other Signs

This category requires a person to meet five of the twelve options. This the category that may require your seeing multiple specialists to meet the criteria. If you are frustrated by being unable to find a single provider who can make a diagnosis, it may be best to take the checklist to multiple providers and ask them to sign it, attesting to the parts they feel they can competently test. Your physical therapist can complete the portion of the checklist with the Beighton Scale for example, and then your cardiologist or dermatologist may need to confirm that the signs are present in your heart or skin. Then you can take the checklist back to your primary care doctor and they may be willing to formally give you the diagnosis.

Let's take a look at the twelve options:

  1. "Unusually soft of velvety skin" - this is somewhat subjective. To accurately assess this, a provider would have to have spent a fair amount of time touching the skin of multiple patients to gain an idea of what "normal" softness is. The best providers to assess this are typically going to be dermatologists, physical therapists, and primary care doctors.

  2. "Mild skin hyperextensibility" - again, there is some room for interpretation as to what you define as "Mild". A healthcare provider will typically pinche the skin on the back of the hand and lift it up to see how much elasticity is present. Again, this will be best assessed by a provider who is familiar with skin and how it moves.

  3. "Unexplained striae distensae or rubae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men, or pre-pubertal women without a history of significant gain or loss of body fat or weight" - this one gets tricky. Stretch marks commonly occur in women after pregnancies, so providers have to ask female patient had the stretch marks before having children. Furthermore, statistically 70% of Americans are overweight or obese (1), which makes giving a patient a point for this option impossible for a large percentage of people.

  4. "Bilateral piezogenic papules of the heels" - these are small bumps, that are fat deposits which can be seen on the heels. Images of them can be found with a quick internet search.

  5. "Recurrent or multiple abdominal hernias" - this also leaves some room for interpretation. Many individuals have small abdominal hernias that don't cause any pain or loss of function which are never diagnosed. It is also common that they are found on imaging reports while looking for other problems in otherwise healthy individuals who do not have EDS. It is also worth noting, that in many women, after pregnancy, the abdominal wall is weakened from being stretched to accommodate the growing baby. This can lead to conditions like diastasis recti which is different from an abdominal hernia. To meet the qualification for this option, the hernias have to be either recurrent at the same location, or a patient has to have more than one abdominal hernia cite.

  6. "Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS" - While you can compare your scars to an image search for papyraceous scars, which means "thin as paper", and hemosideric scars, which have a specific type of coloration change; this is best evaluated by a healthcare provider. Ideally you want to consult a dermatologist (though some primary care providers may feel comfortable evaluating this). This option can be difficult to assess for some patients however if they don't have enough scars. This is especially true of children who may not have had two injuries or surgeries that would produce a scar.

  7. "Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition" - Prolapse is a medical term for a weakening in the supporting connective tissue to the extent that an organ displaces/falls because it is not well supported. Nulliparous is a medical term for a woman who has not had children. Prolapse is typically assessed by a gynecologist, or a pelvic floor specializing physical therapist. While it is understandable, that prolapse is more common in women who have had children in general, this can be frustrating because it is yet another option that cannot be evaluated in many adult women.

  8. "Dental crowding and high or narrow palate" - this is ideally assessed by a dentist, orthodontist, or in some cases a TMJ specializing physical therapist who is accustomed to evaluating the inside of a patient's mouth.

  9. "Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Walker sign) on both sides, (ii) positive thumb sign (Steinberg sign) on both sides"

  10. "Arm span-to-height ratio ≥1.05" - this is calculated by first measuring a patients' arm span from the longest fingertip on one side to the longest fingertip on the other side while the arms are maximally outstretched to the sides, also called the wingspan. This number is then divided by the patient's height. Measurements are taken either in inches or in centimeters.

  11. "Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria" - this is typically evaluated by a cardiologist, though some primary care physicians may be willing to order the echocardiogram as well.

  12. "Aortic root dilatation with Z-score >+2" - the aorta is a major blood vessel of the heart. This is also evaluated by a cardiologist, and involves imaging studies such as a echocardiogram, CT scan or MRI.


Assuming that a person meets both Criterion 1, and two of the three categories in Criterion 2, there are still a few more factors to consider.


Criterion 3: Exclusions


Criterion 3 of the EDS diagnostic checklist form
Image Credit: Ehlers Danlos Society Diagnostic Checklist

This criterion is designed to make sure that other diseases and other types of EDS are not being missed. There are several types of EDS that can be tested for genetically. (Coming Soon: EDS: Is Genetic Testing Right For Me?)

There are many conditions that can explain the presence of chronic pain. For this reason, if a person has already been diagnosed with another connective tissue disorder, or autoimmune rheumatologic disorder, the presence of chronic pain alone is not necessarily indicative of hypermobile EDS. In this case, a person is required to meet the qualifications of category A and B.

Some patients read the second point of Criterion 3 and ask if fibromyalgia is considered an autoimmune rheumatologic condition. While there is room for debate on this subject, there are many providers who feel that patients have been misdiagnosed with fibromyalgia instead of hEDS. Lupus and rheumatoid arthritis can be diagnosed by blood tests for specific immune markers. Fibromyalgia on the other hand is considered to be a diagnosis by exclusion. There are no objective tests for fibromyalgia, rather, doctors make a diagnosis if a patient presents with certain symptoms, and they cannot find another justifiable cause. The majority of providers therefore consider it possible that a person diagnosed with fibromyalgia may have had hEDS all along, and do not consider fibromyalgia as an autoimmune rheumatologic condition that should be counted as an exclusion when evaluating the second point of Criterion 3.

There are many disorders and diseases to be considered, and we won't cover all of them here. This article is intended for educational purposes and is not a replacement for individual medical advice from a licensed healthcare provider. If you would like to be evaluated to screen for EDS and need an ally to be part of your healthcare team, click to Book Online today and schedule an appointment with an EDS specializing physical therapist.


References:

(2) The Ehlers Danlos Society, Diagnostic Checklist: https://www.ehlers-danlos.com/heds-diagnostic-checklist/


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