Have you ever been called "double-jointed" as a party trick, only to find yourself in chronic pain years later? Or perhaps you’ve spent years bouncing between specialists—rheumatologists, orthopedists, gastroenterologists—feeling like you’re collecting diagnoses without ever finding the root cause. If this sounds painfully familiar, you aren’t alone. In my years specializing in musculoskeletal disorders, I’ve met countless patients who feel "crazy" because their tests come back normal, yet their bodies feel like they are falling apart. The answer often lies in a condition that is surprisingly common yet frequently missed: Ehlers-Danlos syndrome hypermobility type diagnosis.
Ehlers-Danlos syndrome hypermobility type (hEDS) is a heritable disorder of connective tissue that affects the collagen in your body—essentially the "glue" that holds you together. Because hEDS currently lacks a definitive genetic test, diagnosis relies entirely on a strict set of clinical observations known as the 2017 International Classification. This makes the process tricky, subjective, and often frustrating if your doctor isn't up to speed. That is exactly why I wrote this guide. I want to bridge the gap between medical jargon and your lived reality.
This post is designed to be your comprehensive roadmap. We aren’t just going to list symptoms; we are going to walk through the practical, step-by-step process of getting evaluated. We will cover how to prepare for your appointment, exactly what doctors look for during the physical exam, and how to advocate for yourself when the medical system pushes back. By the end of this article, you will have a clear, actionable plan to seek the answers you deserve.
What You’ll Learn
1. Understanding the Basics: What is hEDS?
To navigate an Ehlers-Danlos syndrome hypermobility type diagnosis, you first need to understand what is happening beneath the surface of your skin. Ehlers-Danlos Syndrome (EDS) is not a single disease but a group of thirteen distinct disorders. Twelve of them have known genetic markers—genes we can spot in a blood test. The hypermobile type (hEDS), however, is the outlier. It is the most common form, yet the specific gene mutations causing it remain elusive to researchers. This biological mystery is why clinical criteria are so critical.
In hEDS, your collagen is defective. Think of healthy collagen as a tight, strong rubber band that snaps back into place. In hEDS, that rubber band is overstretched and loose. This laxity doesn't just affect your joints; it affects your blood vessels, skin, gut, and even your gums. This is why you might have "stretchy" skin, digestive issues like IBS, or dizziness when standing up (POTS), alongside your joint pain. It is a multi-systemic issue, which is why it is so often misdiagnosed as Fibromyalgia or psychosomatic pain.
The diagnosis is currently based on meeting three specific criteria simultaneously: Generalized Joint Hypermobility (Criterion 1), evidence of syndromic features and complications (Criterion 2), and the exclusion of other conditions (Criterion 3). Understanding this structure helps you realize that a diagnosis isn't just about being flexible; it's about demonstrating a pattern of connective tissue fragility throughout your entire body.
2. The Beighton Score: Measuring Your Flexibility
The first hurdle in the diagnostic checklist is establishing "Generalized Joint Hypermobility," and the standard tool for this is the Beighton Score. This is a 9-point scoring system that measures hypermobility in specific joints. To meet the criteria for hEDS, pre-pubertal children usually need a score of 6 or higher, adults up to age 50 need a score of 5 or higher, and those over 50 need a 4 or higher. It is a quick physical test, but it is often performed incorrectly by non-specialists.
The test looks at five areas: your pinky fingers, thumbs, elbows, knees, and spine. Can you bend your pinky back beyond 90 degrees? Can you touch your thumb to your forearm? Do your elbows and knees hyperextend (bend backward) past 10 degrees? Can you place your palms flat on the floor without bending your knees? Each side of the body gets a point. It sounds simple, but here is the catch: stiffness from age or injury can lower your score.
If you are older or have arthritis, you might not score high enough today, even if you were incredibly flexible in your youth. The 2017 criteria account for this by asking historical questions (the "5-point questionnaire"). If you used to be able to do the splits or perform "contortionist" tricks as a child, that history matters. A knowledgeable doctor will look at your past capability, not just your current stiffness.
3. Beyond Joints: Systemic Signs (Criterion 2A)
This is where the Ehlers-Danlos syndrome hypermobility type diagnosis gets interesting and where many general practitioners get lost. Criterion 2 is divided into three parts (A, B, and C), and you generally need to meet two of them. Feature A is all about the physical signs of connective tissue weakness that aren't in the joints. You need to show at least five of twelve specific signs listed in the official criteria.
These signs are fascinatingly specific. They include unusually soft or velvety skin (think of the texture of a rabbit's ear), mild skin hyperextensibility (stretchy skin), and unexplained stretch marks (striae) in teenagers or men who haven't had significant weight fluctuations. Other signs include bilateral piezogenic papules (little fatty lumps that pop out on your heels when you stand), recurrent abdominal hernias, or dental crowding with a high, narrow palate.
I often see patients who are surprised that their "weird heels" or the fact that they needed a palate expander as a kid are actually medical evidence. Doctors also check for "Marfanoid" features—like an arm span that is longer than your height, or incredibly long fingers (arachnodactyly). This section effectively separates people who are just flexible from those who have a systemic tissue disorder.
4. Family History: Connecting the Genetic Dots
Feature B of the diagnostic criteria focuses on family history. Since hEDS is an autosomal dominant condition, there is a 50% chance of passing it to offspring. This part of the diagnosis asks a simple but loaded question: Do you have a first-degree relative (parent, sibling, or child) who meets the current diagnostic criteria for hEDS? This can be difficult because your parents might never have been diagnosed, or they might have been misdiagnosed with arthritis or "growing pains."
In my practice, I often see "cascading diagnoses." A young woman comes in for an evaluation, and as we discuss the symptoms, her mother sitting in the corner starts nodding, realizing she has the exact same issues. If you don't have a formally diagnosed relative, you cannot claim Feature B. However, this doesn't mean you don't have hEDS; it just means you have to meet Criteria A (systemic signs) and C (musculoskeletal pain) to pass Criterion 2.
If you do suspect a family link, it is worth having open conversations with your relatives. Ask them about their joint history, if they bruise easily, or if they have "party tricks." Sometimes, getting a parent diagnosed is the fastest way to secure your own diagnosis, as it fulfills this crucial criterion and validates the hereditary nature of your struggles.
5. Musculoskeletal Complications: Pain and Instability
Feature C is the one that likely brought you to the doctor in the first place: pain. To fulfill this part of the Ehlers-Danlos syndrome hypermobility type diagnosis, you must demonstrate meaningful musculoskeletal involvement. This isn't just "feeling stiff"; the criteria are specific to filter out other causes of pain. You need to show either daily musculoskeletal pain in two or more limbs for at least three months, or chronic widespread pain for three months.
Alternatively, Feature C can be met through recurrent joint dislocations or frank joint instability without trauma. This means your shoulder pops out when you reach for a cup, or your kneecap slides sideways when you turn. It is important to distinguish between a full dislocation (the bones separate completely) and a subluxation (a partial slip). Both are valid evidence of instability, but they must be atraumatic—meaning they happen during normal daily life, not because of a football tackle.
Pain in hEDS is complex. It comes from micro-traumas in the loose joints, muscle spasms as your body tries to stabilize itself, and often central sensitization (where the nervous system turns up the volume on pain). Documenting this history is vital. A simple "it hurts" isn't enough; you need to describe the duration, frequency, and nature of the instability to satisfy the diagnostic checklist.
6. The Rule of Exclusion: What Else Could It Be?
Criterion 3 is the safety net of the diagnostic process. It ensures that your symptoms aren't being caused by something else. This is a critical step because many other conditions look like hEDS. For example, autoimmune disorders like Lupus or Rheumatoid Arthritis can cause joint pain (though usually with inflammation, which hEDS lacks). Other connective tissue disorders, like Marfan Syndrome or Loeys-Dietz Syndrome, can cause hypermobility but carry dangerous heart risks that hEDS typically does not.
Your doctor must rule out these "alternative diagnoses." This often involves a physical exam to check for specific Marfan features (like eye lens dislocation) and potentially blood tests for autoimmune markers (like ANA or Rheumatoid Factor). They will also look for signs of other EDS types. For instance, if your skin is incredibly fragile and tears open with minor bumps, that suggests Classical EDS, not Hypermobile EDS.
This phase can feel tedious because it involves more testing "just to be sure." However, it is essential for your safety. Missing a diagnosis of Vascular EDS (which causes organ rupture) because a doctor assumed it was just hEDS could be fatal. Therefore, exclusion is not about denying you an hEDS diagnosis; it is about ensuring hEDS is the correct diagnosis.
7. The Genetic Testing Gap: Why Blood Tests Are Normal
One of the most confusing aspects for patients is the lack of a genetic test for hEDS. Patients often ask, "Can't I just take a 23andMe test or a medical panel?" The answer, frustratingly, is no. While science has identified the genes for the other 12 types of EDS (like COL5A1 for Classical EDS or COL3A1 for Vascular EDS), the genetic cause of Hypermobile EDS is still unknown. It is likely "polygenic," meaning it involves a complex interaction of many different gene variants.
This means if you suspect hEDS, a geneticist might still order a connective tissue panel, but they are doing it to rule out the other scary types, not to rule in hEDS. If that panel comes back negative for all known connective tissue genes, and you meet the clinical criteria we discussed above, you get the hEDS diagnosis. It is a diagnosis of clinical observation supported by genetic exclusion.
This "gap" creates validation issues. Without a positive lab result, some patients feel like imposters, or face skepticism from insurance companies or uninformed family members. But remember: a clinical diagnosis is just as valid as a genetic one. Migraines and depression are also diagnosed clinically, and they are very real. The lack of a gene marker does not make your pain less real.
8. Finding the Right Doctor: Who Actually Diagnoses This?
If you walk into a random primary care office and ask for an Ehlers-Danlos syndrome hypermobility type diagnosis, you might be met with a blank stare. hEDS sits in a medical gray area. It affects the joints (Rheumatology), the genes (Genetics), and the muscles/skeleton (Orthopedics/Physiatry). So, who is the captain of the ship? Traditionally, Geneticists were the gold standard. However, because there is no gene test for hEDS and genetic waiting lists are years long, many geneticists are now refusing to see hEDS referrals.
Currently, the best route is often a knowledgeable Rheumatologist or a Physiatrist (Physical Medicine & Rehabilitation doctor). However, even among rheumatologists, some believe hypermobility is "benign" and won't diagnose it. This means you have to be strategic. You need to find a "connective tissue aware" provider. Local support groups on Facebook or the Ehlers-Danlos Society's healthcare directory are invaluable for finding names of doctors who actually understand the 2017 criteria.
In my experience, sometimes the best advocate is a physical therapist (PT). While they cannot officially diagnose you, a skilled PT can assess your hypermobility, document your Beighton score, and write a letter to your doctor supporting the need for a formal evaluation. They often have the time to see how your body moves that a busy specialist lacks.
9. Preparing for Your Appointment: Your Evidence Binder
Doctors are detectives, but they are overworked detectives. To get your diagnosis, you need to hand them the clues on a silver platter. I recommend creating an "Evidence Binder." Do not walk in and just say "I hurt everywhere." That is too vague. Instead, bring a printed copy of the 2017 hEDS diagnostic checklist. Go through it beforehand and check off what you think applies to you.
Include a one-page summary of your medical history. List your surgeries, your history of sprains/dislocations, and your family history. If you have photos of your "party tricks" from childhood, or photos of your bruises or stretch marks, bring them. Evidence of "stretchy skin" is hard to show if you are stiff that day, but a photo lasts forever. Also, include a list of your current symptoms categorized by system (e.g., Joints, Gut, Heart/Dizziness).
This preparation signals to the doctor that you are serious, informed, and looking for a partnership, not just seeking pills. It also saves time. If you can hand them a sheet that says "I have a Beighton score of 6/9, and here are my systemic features," you have done 80% of the work for them. This reduces the chance of them dismissing you due to time constraints.
10. The Physical Exam: What to Expect in the Room
When the day finally arrives, knowing what to expect can lower your anxiety. The physical exam for hEDS is quite different from a standard check-up. The doctor will ask you to perform the Beighton maneuvers—bending your pinky, touching your toes, etc. They should use a goniometer (a specialized ruler) to measure the angles of your joints precisely, though many experienced clinicians eyeball it.
They will likely touch your skin in various places—usually the forearm and the neck—to test for hyperextensibility and softness. They might look inside your mouth to check your palate height and dental crowding. They may ask you to stand up to check for those piezogenic papules on your heels or look at your back for scoliosis and stretch marks. It can feel invasive to have someone scrutinizing your body so closely, pointing out "flaws."
Remember, this exam is clinical data collection. If they ask you to walk, they are looking for flat feet (pes planus) or a clumsy gait. If they check your arm span, they are ruling out Marfanoid habitus. It is a thorough investigation. If you are in pain that day, tell them. You do not need to push a joint to the point of dislocation to prove you are hypermobile. A good doctor will respect your limits while assessing your range of motion.
11. Living with the Diagnosis: Management Strategies
So, you got the paper that says "hEDS." Now what? There is no cure for hEDS, so the goal shifts from "fixing" it to "managing" it. The cornerstone of treatment is specialized physical therapy. You cannot treat hEDS joints like normal joints. Regular stretching (yoga) can actually make you worse by stretching out your already loose ligaments. You need "stabilization" exercises—strengthening the muscles around the joint to do the work the ligaments can't.
Pain management is also key. This might involve medications, but often includes tools like ring splints (to keep fingers from hyperextending), compression garments (for proprioception—knowing where your body is in space), and pacing your activities. You have to learn the "spoon theory"—conserving your energy for what matters.
You will also need to manage the comorbidities. If you have POTS (dizziness), you’ll need salt and fluids. If you have MCAS (allergies), you’ll need dietary changes. A diagnosis is a validation that allows you to build a care team—a PT, a cardiologist, a gastroenterologist—who all understand the underlying connective tissue issue. It transforms your care from "chasing symptoms" to "supporting your system."
12. The Mental Toll: Validating Your Experience
Finally, we must address the elephant in the room: the mental health impact. The journey to an Ehlers-Danlos syndrome hypermobility type diagnosis is often traumatic. Years of medical gaslighting—being told "it's all in your head" or "you're just anxious"—takes a heavy toll. You stop trusting your own body and your own perceptions. Receiving a diagnosis can be an immense relief, but it can also bring grief. Grief for the years lost to pain, and grief for the "healthy" life you thought you’d have.
Anxiety is also a chemical symptom of hEDS. The adrenaline surges that accompany dysautonomia (common in hEDS) can make you feel physically anxious even when you aren't mentally stressed. Understanding that your anxiety might be physiological, not just psychological, is a game-changer.
Connect with the community. The "zebra" is the mascot for EDS (because medical students are taught "when you hear hoofbeats, think horses, not zebras"—but we are the zebras). Finding a community of other zebras who understand exactly what it feels like to have a rib slip out while sleeping is incredibly healing. You are not broken; you are just built differently, and there is a whole herd of us out there.
Trusted Resources for Your Journey
Don't just take my word for it. Here are the most authoritative sources to continue your research:
- Best Video: Mayo Clinic: Ehlers-Danlos Syndrome Overview – A clear, medical breakdown from a top institution.
- Best Article: The Ehlers-Danlos Society: hEDS Diagnostic Criteria – The official global standard checklist.
Frequently Asked Questions
1. Is there a genetic test for hEDS diagnosis?
No, currently there is no commercially available genetic test that can positively identify Hypermobile Ehlers-Danlos Syndrome (hEDS). Unlike the other 12 subtypes of EDS (such as Vascular or Classical EDS), researchers have not yet pinpointed the specific gene or genes responsible for hEDS. Diagnosis is therefore "clinical," meaning it is based entirely on your physical symptoms, medical history, and family history according to the 2017 criteria. However, doctors may still order genetic testing to exclude other types of EDS or connective tissue disorders that do have known genetic markers. If those tests are negative and you meet the clinical checklist, hEDS is diagnosed.
2. Which doctor specializes in diagnosing Ehlers-Danlos syndrome?
Finding the right specialist is often the hardest part of the journey. Historically, geneticists were the primary doctors to diagnose EDS. However, because hEDS has no genetic test, many genetic clinics no longer accept hEDS referrals due to overwhelming demand. Consequently, rheumatologists and physiatrists (rehabilitation doctors) are increasingly taking on the role of diagnosis. However, not all rheumatologists are educated on the 2017 criteria. It is highly recommended to call the doctor's office beforehand and explicitly ask if they diagnose hypermobility syndromes or hEDS specifically to avoid wasting your time and money.
3. Can Ehlers-Danlos syndrome be diagnosed in adults?
Yes, hEDS is frequently diagnosed in adulthood, often after years of unexplained symptoms. In fact, many people aren't diagnosed until their 30s, 40s, or even 50s. The diagnostic criteria actually adjust for age; for example, the Beighton Score requirement drops from 5/9 to 4/9 for individuals over age 50. Additionally, the criteria include a "historical" questionnaire asking about what you could do in your youth (like doing the splits), acknowledging that joints stiffen with age. It is never too late to get a diagnosis, which can be vital for managing surgeries, pain, and knowing what to look out for in your own children.
4. Is Ehlers-Danlos syndrome hypermobility type painful?
Yes, chronic pain is a hallmark and a diagnostic criterion (Feature C) for hEDS. The pain can manifest in several ways: sharp acute pain from subluxations (partial dislocations), deep aching pain in the muscles as they overwork to stabilize loose joints, and neuropathic pain. Fatigue is also a major component. Because your ligaments are lax, your muscles have to remain in a constant state of tension just to hold your skeleton upright, which is exhausting. Many patients also experience "central sensitization," where the nervous system becomes hypersensitive to pain signals. Effective management requires a combination of physical therapy and pain management strategies.
5. What is the difference between HSD and hEDS?
Hypermobility Spectrum Disorder (HSD) and hEDS are very similar and are treated almost identically, but they differ in the strictness of the diagnostic criteria. hEDS requires you to meet very specific systemic criteria (like soft skin, prolapse, specific body measurements) and family history. If you have symptomatic hypermobility (pain, instability) but you miss the hEDS criteria by just one or two points (e.g., you don't have the skin features), you are diagnosed with HSD. Importantly, HSD is not "mild" EDS; it can be just as disabling and painful. The label essentially distinguishes between those who fit the strict research criteria for hEDS and those who have significant hypermobility issues that don't quite fit that specific box.
6. Does hEDS affect life expectancy?
Generally, Hypermobile Ehlers-Danlos Syndrome (hEDS) does not shorten life expectancy. It is considered a non-life-threatening condition, unlike Vascular EDS (vEDS), which carries high risks of organ rupture and shortened lifespan. However, hEDS can significantly impact the quality of life due to chronic pain, disability, and comorbidities like dysautonomia or gastrointestinal dysfunction. While the condition itself isn't fatal, the chronic wear and tear on the body requires lifelong management. A proper diagnosis helps in preventing complications (like avoiding certain high-risk surgeries) that could otherwise negatively impact long-term health.
7. Can you get disability for Ehlers-Danlos syndrome?
Yes, it is possible to receive disability benefits for Ehlers-Danlos Syndrome, but the diagnosis alone is rarely enough. Disability determinations are based on functional limitations—what you specifically cannot do—rather than just the name of the disease. You need comprehensive documentation from your doctors detailing how your joint instability, pain, and fatigue prevent you from performing work tasks (like sitting, standing, lifting, or concentrating). Because hEDS is an "invisible illness" where you might look fine on the outside, having a detailed medical record of your dislocations, physical therapy limitations, and failed work attempts is crucial for a successful claim.
8. What are common comorbidities with hEDS?
hEDS rarely travels alone. It is part of a "triad" of conditions often seen together: hEDS, POTS (Postural Orthostatic Tachycardia Syndrome), and MCAS (Mast Cell Activation Syndrome). POTS causes dizziness and racing heart when standing, while MCAS causes allergic-type reactions to random triggers. Other common issues include Gastroparesis (delayed stomach emptying), temporomandibular joint (TMJ) dysfunction, and anxiety disorders. Recognizing these comorbidities is essential because treating just the joints without addressing the dizzy spells or digestive issues will often result in poor overall management. A holistic approach is required.
9. How do I prepare for an hEDS evaluation?
Preparation is key to a successful evaluation. Start by downloading the 2017 hEDS diagnostic checklist and familiarizing yourself with it. Create a medical resume that lists your history of joint issues, surgeries, and family history. If you have photos of bruising, weird scars, or past flexibility, organize them. Crucially, try to get records from family members if possible, as a family history is a major part of the criteria. Go in with a "partnership" mindset—you are there to provide the data (your history), and the doctor is there to interpret it. Being organized shows you are credible and serious.
Conclusion & Next Steps
Navigating an Ehlers-Danlos syndrome hypermobility type diagnosis is a marathon, not a sprint. It requires patience, persistence, and a lot of self-advocacy. We have covered the biological basics of collagen defects, the specific steps of the Beighton Score, and the nuanced systemic features that separate hEDS from simple flexibility. We also discussed the vital importance of ruling out other conditions and the reality of managing life after the label.
Remember, a diagnosis is more than just a code in your medical file. It is the key that unlocks the right physical therapy, valid pain management, and a community that understands you. It stops the cycle of wondering "what is wrong with me" and lets you start asking "how do I support my body." You are the expert on your own experience. Trust your gut, use the checklist, and don't stop until you find a provider who listens.
Here is your immediate next step: Download the 2017 hEDS Diagnostic Checklist today. Sit down with a trusted friend or family member this evening and go through it honestly. Even if you don't have a doctor's appointment yet, knowing exactly where you stand on the criteria will give you the confidence to make that call.
Do you have a diagnostic story? Did you struggle to get a doctor to listen? Share your experience in the comments below—your story might be the validation someone else needs to keep fighting.
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About the Author
Hi, I'm Dr. Alex. I specialize in Musculoskeletal & Connective Tissue Diseases and have spent over a decade helping patients untangle the complex web of chronic pain and hypermobility. I believe that medicine works best when patients are empowered with knowledge, not just prescriptions. When I'm not writing or seeing patients, you'll likely find me hiking (with good ankle support!) or brewing the perfect cup of coffee.