Diagnosis: (hyper) Mobile

Clinical Evaluation for Hypermobility Syndromes

Ehlers-Danlos Syndrome (EDS) and related conditions are being diagnosed more frequently now than they were in the past, but it’s still maddeningly under-diagnosed. I now know I had symptoms of hEDS from as young as 8 years old, but it took until age 33 for me to get a diagnosis.

In this post I’m going to walk through my experience getting a diagnosis in some detail, including explaining the 2017 Ehlers-Danlos criteria. I had no idea what to expect going into this, so hopefully if you are seeking care this post will help give you some context ahead of time.

First, there are an enormous variety of connective tissue disorders, and a ton of conditions that can cause hypermobility. There are even 13 sub-types of just EDS. If you have some of the same symptoms I describe, it’s important not to assume that you have the same diagnoses that I do. Please also keep in mind that nothing I post is medical advice.

You should first talk to your primary care provider (PCP) about your symptoms. If they are not familiar with EDS and related conditions, you can provide them with some resources specifically designed for general practitioners. You can also explore local support groups, many of whom have lists of doctors who are EDS-aware. If you have symptoms of auto-immune disorders such as Rheumatoid Arthritis, they may also refer you to a rheumatologist.

My introduction to EDS

I brought up the topic of hypermobility and EDS with my primary care physician after a physical therapist and chiropractor noted that my multiple hypermobile joints and history of chronic pain and injuries was consistent with a connective tissue disorder. She wasn’t very familiar with EDS, but she put an initial diagnosis of “generalized joint hypermobility” into my chart and referred me to the Center for Pain Management at our local hospital system, where she knew there were doctors who evaluated for these conditions.

I was put on a waiting list for the one specialist in the area and spent two years researching what I could on my own, and the more I read, the more I knew this type of condition could explain so much of my life, and the more desperate I became to talk to an expert who could point me in a direction that would lead to less pain. I was exhausted, emotionally and physically, from the constant severe pain and the hours a day I had to dedicate to exercises and physical therapy and massage appointments for multiple joints just to keep myself reasonably functional.

Initial virtual appointment

I was very nervous for my first appointment with the specialist, which was a telehealth visit. I’ve had a lot of experiences being having my pain minimized or dismissed completely by doctors and being brushed off any time I brought up a “weird thing” that I experienced like heart palpitations or random chest pain. Over the years I developed strategies for doctors’ visits to be taken more seriously, like wearing my wedding ring, dressing professionally or wearing academic gear from my institutions, and focusing visits on what was hurting the most (see the “pareto” concept from my first post).

Within the first few minutes of my appointment, I was awestruck. The specialist, whom I’ll call Dr. A, came out of the gate immediately noting that looking at my chart it seemed like I definitely have sometime of hypermobility syndrome, and that she was determined to work with me to get to the bottom of it. She was direct and compassionate, and immediate relief spread through my body and I was now excited! This was progress!

She started by explaining the process. I would tell her my life story, noting all the injuries, illness, and “weird things” along the way, and then she would ask a series of questions, and then at the end we would talk about next steps.

Visit Summary

For full transparency into the process, I have copied my visit notes at the bottom of the post, edited for anonymity and brevity, and annotated with context, but here is the summary from the first visit.

“Impression:

The Hypermobile Physicist is a very pleasant 33 year old female with a history of hypermobility syndrome. Today The Hypermobile Physicist presents for a virtual visit due to COVID-19 restrictions in care. She has a history consistent with a hypermobile connective tissue disorder, however physical examination was deferred until face-to-face visit can be completed. We will complete 2017 diagnostic criteria for hypermobile Ehlers-Danlos Syndrome at face-to-face follow up. Educational materials provided.

We discussed that the treatment of pain associated with hypermobile connective tissue disorders requires a multidisciplinary, multi-factorial, and individualized approach. Patients often experience mechanical pain from frequent micro and macro tears around hypermobile joints, altered proprioception which increases risk of injury, and inflammatory pain driven by immune activation such as mast cell degranulation. Chronic pain in hypermobile connective tissue disorders may also be amplified by central pain sensitization. Other drivers of pain in hypermobile connective tissue disorders include small fiber neuropathy, mitochondrial dysfunction, and dystonia.”

So many more weird things in my life could be explained by hypermobility disorder than I knew! Once, when I was about 18, I needed to have a cavity filled, but the numbing medication wouldn’t work. They kept giving me more and more Novocain, but I couldn’t be numbed. Turns out this is a hypermobility thing! The weird heart palpitations that no doctor had taken seriously? Also connective tissue! The painful orthodontic upper palate expander I had to get in the 3rd grade? One of the most common early signs of a hypermobility syndrome!

To diagnose a specific type of hypermobility syndrome, we had to have an in-person physical examination.

In-person Physical Exam

More injuries

In the month or two between my telehealth visit and the physical exam, my elbow was feeling well enough that I mustered the courage to get my wrist, the next item on the pareto, checked out. I’d had pain on the ulnar (pinky) side of my right wrist since my early twenties. In grad school I went to a sport medicine doctor to get it checked out. He did an x-ray and a brief physical exam and told me it was tendonitis, caused by typing a lot with small hands. He told me to wear a wrist brace when typing and suggested no other follow up. I did not know enough at the time not to take this “there’s nothing you can do about it” advice at face value, and I was also too focused on my work. I will write more about this in some other post, but a dozen years later, I was told it was actually something called a triangular fibrocartilage complex injury, definitely not tendonitis. The treatment is normally casting to immobilize the entire wrist, forearm, and elbow for 6+ weeks, but to maintain the ability to do some experiences for my elbow, they gave me a removeable cast instead. It looked like this, and it wasn’t fun!

I walked into my appointment in this splint, and told her about my TFCC diagnosis, and she immediately said “Well, check off another box. TFCC injuries are very common in hypermobile bodies.” It was both affirming and frustrating, knowing my future still likely holds a series of further injuries, exacerbated by my intense athletic career as a softball pitcher (TFCC is common in baseball players).

Dr. A started by saying that she would do a full physical exam for the different hypermobile Ehlers-Danlos (hEDS) criteria and to rule out or in other sub-types of EDS and connective tissue disorders. She cautioned that some items would seem odd, but that she would explain at the end. She said if I was uncomfortable being touched or moving in any way, all I had to do was say so at any point, and she would stop, saying “I am 100% not about the patriarchal model of medicine.” I immediately fell in love with her, in a girl-boss girl-crush way.

2017 hEDS Criteria

She walked through the hEDS diagnostic checklist, which you can see in the full visit notes I’ve included at the bottom of the post. This included looking at the range of motion of my joints, testing my skin for hyper extensivity, and looking at my eyes, mouth, scars, stretch marks, and heels for signs of an overall connective tissue disorder. At the end, she drew this explanation out on the whiteboard for me.

Dr. A explained that prior to 2017, I would have been given a diagnosis of hEDS. However, in 2017 a uniform and more strict set of criteria were established to help researchers find a genetic link. hEDS is the only sub-type of EDS which does not have at least one gene marker that can be used for diagnosis, though there has been some progress. It is likely that there are multiple interacting genetic influences, making the identification much more complicated.

Hypermobility disorders exist on a spectrum, from benign hypermobility, where people can overextend their joints but don’t experience any negative consequences from it, to Hypermobility Spectrum Disorder (HSD), where people have chronic issues as a consequence of their hypermobility and varying degrees of connective tissue symptoms and implications. At the far right of the spectrum is EDSs and other connective tissue disorders like Marfan’s, etc, including the hypermobile sub-type of EDS (hEDS). A patient must meet this strict criteria for hEDS ,or else they get a diagnosis of HSD.

To be diagnosed with hEDS, you must meet

1. A minimum Beighton score depending on your age.
2. 2/3 criteria of the below
   1. Have 5/12 signs of general connective tissue disorder
   1. A direct relative diagnosed with hEDS
   1. Chronic instability (strains, sprains, injuries, etc)
3. Exclusion of other types of connective tissue disorders. For example, if my skin was extremely hyper extensible instead of mildly hyper extensible, other sub-types of EDS may have still been possible, and I might have been referred for genetic testing.

Diagnosis: Hypermobility Spectrum Disorder (HSD)

I met criteria 1) and 3), but I had only 4 signs in criteria 2a, and though my father has all the same symptoms as I do, he had never heard of EDS and is currently struggling to find a doctor to get a diagnosis where he lives. So, I have an official diagnosis of HSD.

Dr. A noted that based on my evaluation, I fell on the spectrum just to the left of the EDS criteria line, the dot she marked on the left. Then she pithily noted that this line is truly arbitrary, and that research shows that people on either side of this line suffer “the same crap,” meaning the same pain, complications, associated disorders, etc. This can be a struggle because doctors who are not EDS-aware may see a diagnosis of HSD in my chart and assume it means benign hypermobility when clinically as a patient I am indistinguishable from a patient with hEDS.

With the help of Dr. A and the Facebook support group I’ve joined, I have started to build a care team of EDS-aware folks, but when I am not lucky enough to find one for a particular specialty, I am going to practice becoming a better advocate for myself. I can look up clinical studies to share with my doctors or other care personnel, use the resources on the EDS websites like the GP toolkit, and if needed have them consult with Dr. A. I spent too much of my life assuming doctors were the experts on my body, but I am learning that I am the only expert, and I am my most powerful advocate.

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Full clinical notes

First Telehealth Visit

Reason for consult: Hypermobility Syndrome   Chief Complaint Patient presents with • Neck pain • Joint pain • Pain In Right Arm    History of Present Illness: The Hypermobile Physicist is a 33 year old female with hypermobility syndrome.   Childhood history The Hypermobile Physicist was a generally healthy infant and toddler, meeting developmental and growth milestone. She had frequent ear infections, but mild. In grade school she developed respiratory allergies, that would lead to frequent sinus infections. She recalls many rounds of antibiotics. She was mildly clumsy, although was very active in sports (good hand/eye coordination), but would trip frequently, which lead to fracture of the left wrist in 4th grade. She did have recurrent ankle sprains. She was otherwise healthy.   In 5th grade she recalls an episode of “pulling a muscle” when she turned her head- and had to wear a neck brace for 6 weeks.   Adolescent history In 7th grade she had a more severe ankle sprain. She had a severe illness in 7th grade, suspected meningitis, although did not have LP. She woke up with 104* fever and “was unable to move”. She states that after this “my immune system didn’t recover” and she started to get more frequent upper respiratory tract infection.   She was very active, playing sports- softball. In 8th grade she had a knee injury playing softball- and was seen by physician that notes patellar malpositioning. She had left knee lateral release in 9th grade. She was recommended to get lateral release on the right knee, and this was completed in 2011.   In her junior year she had sinus infection and bronchitis, and was prescribed sulfa antibiotics, and started to develop side effects with body pain, rash and vomiting. She states that the respiratory infection resolved, but it took her months to fully recover. She recalls that it took 6 months- recurrent fevers, fatigue. She also had urticaria in the time period, but this was likely a medication allergy (gemifloxcin). She had to take a leave of absence from school due to severity of illness. She developed sores around her mouth, and these have never resolved- these return when she is on her menses, or when she has a lack of sleep.   She denies chronic pain in childhood/teens, most pain was related to injuries. She did have neck and shoulder tightness. She had a partial rotator cuff tear, and this ended her pitching.   She was a pitcher for softball. She had multiple pitching injuries. Strain of the sartorial muscle. She also had growth plate fracture in the right arm   She denies any GI symptoms in childhood/teens. She denies chronic headaches.    Adult history The Hypermobile Physicist recalls that she had multiple illnesses in college. She had H1N1 in 2009. She was a physics major. She was less active and didn’t play sports in college. She was able to complete rigorous college and grad school programs. She states “I was able to get through but was getting sick”. In grad school she started to get more MSK issues: bilateral plantar fascitis. She started to get recurrent tendinitis of both elbows, more neck, upper back pain.   The Hypermobile Physicist moved to the PNW in 2016 to work as an engineer. She continued to have wrist and elbow pain. She was wearing braces. She started physical therapy for elbow and neck pain. Her left elbow improved. Her neck pain also improved with PT. The right elbow did not improve, and was not responding to treatment. She was able to stabilize her plantar fasciitis with rolling/shoes.   She started to develop right sided buttock pain in 2068, and was seen by physiatry and was diagnosed with sacroiliac dysfunction, and was given SI belt and PT. She does continue to get flares of SI pain. This was imaged in 2016.   The Hypermobile Physicist was seen by elbow specialist, was found to have synovial fold, but they did not think this was contributory to her pain. She was recommended steroid injections, which did improve pain 50% for 3 months. In sept 2021 she had surgery—removal of plica, and debridement of the extensor tendon. Her recovery was difficult, with decreased function for months. She is now improved from her baseline prior to surgery.   She was doing PT for her elbows, and her PT first noted her hypermobility.   She has recent stiffness and soreness in her hands. This is worse in the morning or after rest. This started ~ 6 months ago and has been gradually worsening. She is getting some swelling along the MCP’s on the right hand only. No erythema or warmth. [substituting jargon: blood tests show no signs of rheumatoid arthritis or similar conditions] She continues to have neck pain and stiffness, which is addressed with bimonthly massage, work ergonomics, PT exercises. She does get episodes of buttock/SI pain. She started using a Peloton, but this worsens her SI pain, hamstring pain.   Ehlers-Danlos Syndrome History   Gastrointestinal   Nausea/vomiting: no Bloating/gas: no Diarrhea: with menses only Constipation: no Abdominal Pain: no Hernia history: none Rectal Prolapse: none Hemorrhoids: none Reflux/heartburn: present, recent onset Esophageal spasms: none   Cardiopulmonary   Date of last echo: never completed Spontaneous pneumothorax: none Mitral Valve Prolapse: not suspected Palpitations: present Tachycardia: rare   Integumentary   Easy bruising: present Poor wound healing: none Fragile skin/tearing: none Abnormal Scaring: none Striae: none Urticaria: only with medications Flushing: present, EtOH, emotional changes   Oral   Dry mouth: no Dental caries: mild Gingivitis: none Dental malalignment/orthodontia: recommended, did have palate expander Resistance to local anesthesia: present   Ocular   Myopia: present Dry eyes: present, unable to wear contacts Poor focus/blurred vision: none Retinal or vitreous detachment: none   Musculoskeletal   Dislocations: none Recurrent sprains: present Surgical history: lateral release both knees, repeat on the left, right elbow plica removal, septoplasty, turbinate ablation.   Family History Family history of aneurysm, vascular rupture or organ rupture: none Family history of joint hypermobility: Father is hypermobile

Physical Examination

Beighton Score

Forward flexion of the trunk with knees fully extended so that the palms of the hand rest flat* on the floor: 1

Hyperextension of the elbows beyond 10 degrees: 2

Hyperextension of the knees beyond 10 degrees: 2

Passive apposition of the thumbs to the flexor aspect of the forearm: 0

Passive dorsiflexion of the little fingers beyond 90 degrees: 0

Total Score = 5

Clinical diagnosis of hEDS requires the presence of Criteria 1, 2, AND 3

Criteria 1: Generalized Joint Hypermobility

Beighton Score:

• Pre-pubertal children and adolescents: >6 Patient score: NUMBERS 1-10: 5
• Individuals post-puberty up to age 50: >5 Patient score: NUMBERS 1-10: 5
• Individuals >50: >4 (If the Beighton score is 4, and 5PQ has two positives, GJH is present). Patient score: NUMBERS 1-10: 5

Meets Criteria 1 = yes

Criteria 2: Two or more of the following (A + B, B + C, or A + C)

A. Systemic manifestations of a more generalized connective tissue disorder (at least 5 of the following must be present):

• Unusually soft or velvety skin yes
• Mild skin hyperextensibility Yes: 1.5cm volar left arm
• Unexplained striae without a history of significant weight change No
• Bilateral piezogenic papules of the heel no
• Recurrent or multiple hernia(s) No
• Atrophic scarring involving at least two sites (w/o formation of truly papyraceous or hemosideric scars) Yes
• Pelvic floor, rectal, uterine prolapse in a non-obese, never pregnant individual with no other predisposing condition No
• Dental crowding AND high or narrow palate Yes: mild crowding, past palate expander
• Arachnodactyly, defined by one or both:

                  wrist sign (Walker’s) no

                  thumb sign (Steinberg’s) no

• Arm span-to-height ratio > or = 1.05 No 1.02
• MVP at least mild based on echo criteria no
• Aortic root dilation with Z-score >+2 no

Feature A: 4/5 no [just short by one sign]

B. Positive family history in 1 or more first-degree relatives meeting diagnostic criteria for hEDS. No

            Feature B no

[My father is hypermobile and almost certainly has hEDS, but had no idea until after I discussed my experiences and diagnosis with him. He is currently trying to find a doctor in his area to get a diagnosis. I also have a cousin with POTS, so there’s definitely a hereditary factor here.]

C. One of the following musculoskeletal complications:

• Pain in 2 or more limbs daily for at least 3 months Yes: see HPI
• Chronic widespread pain, 3 months or more Yes: see HPI
• Atraumatic joint instability, defined as: No
• 3+ dislocations in same joint, or 2+ dislocations in 2 separate joints, different times -OR-
• Medical confirmation of atraumatic joint instability in 2 or more joints

Feature C yes

Meets Criteria 2 no [1/3, needs 2/3)

Criteria 3: Prerequisites, all required

• Absence of unusual skin fragility (consider other EDS types) yes
• Exclusion of other CTDs (autoimmune or otherwise) yes
• Pts with an autoimmune CTD must meet BOTH Criteria 2 features A and B. yes
• Exclusion of alternative diagnoses (hypotonia, connective tissue laxity) yes

Meets Criteria 3 yes

Meets Criteria 1, 2, 3 no [meets 1 and 3, 2 needs a diagnosis in the family to meet]