The 2017 EDS Diagnostic Criteria: Why Diagnosing Ehlers-Danlos Syndrome Feels Like Playing “Medical Bingo”

Ah, Ehlers-Danlos Syndrome (EDS). For those lucky enough to not have it, it's a group of connective tissue disorders that can make your body feel like a game of Jenga, except the pieces are tendons, skin, and joints, and they’re all somehow the wobbly ones. Diagnosing EDS, particularly Hypermobile Ehlers-Danlos Syndrome (hEDS), is like a high-stakes treasure hunt through your medical history, genetic quirks, and family tree. And in 2017, we finally got some clearer diagnostic criteria. But don’t get too excited — it’s not exactly a stroll in the park.

Let’s unpack what makes the 2017 criteria the medical equivalent of deciphering hieroglyphs, and why figuring out if you have EDS can sometimes feel like winning a very specific lottery where the prize is more medical appointments. Ready? Here we go.

Step One: The Beighton Score – "How Bendable Are You, Exactly?"

First up, to even start talking about hEDS, you need to demonstrate Generalized Joint Hypermobility (GJH). This is where the Beighton score comes in. Think of it like a yoga class, except it’s led by your doctor and there’s no calming soundtrack.

Here’s how it works:

• Can you bend over and slap the floor without bending your knees? That’s a point.

• Can your elbows and knees hyperextend like you're auditioning for a horror movie? Add a point for each.

• Thumb touches forearm? Score!

  
  

Depending on your age, you need to hit a certain threshold. For prepubescent kids, the magic number is six. For the rest of us mere mortals, it’s five. Unless you’re over 50 — then it’s four because, let’s face it, life already hurts enough by then.

Step Two: Feature Sets – The Medical Scavenger Hunt

Next up is a fun game called “Pick Two Out of Three,” where your symptoms are divided into three “features.” To qualify for hEDS, you need to tick off at least two of them. Let’s break these down:

Feature A: Systemic Manifestations of Connective Tissue WoesHere’s where you dig deep into your symptom buffet and hope you’ve got at least five of these beauties:

• Velvety soft skin (think fancy couch upholstery, but human)

• Stretch marks that have nothing to do with weight changes or pregnancy

• Little fat herniations on your heels (also known as piezogenic papules, because the name wasn’t weird enough)

• Dental crowding or a palate so high it could host a cathedral choir

• Arachnodactyly, aka long, slender fingers that would make a piano teacher swoon (or be terrified)

There are 12 items on this list, and the more you tick off, the more likely you’re winning the hEDS jackpot.

Feature B: Family HistoryDoes someone else in your family tree bend like a Cirque du Soleil performer while also complaining about chronic pain? Ding ding! That’s a point for you.

Feature C: Musculoskeletal ShenanigansDo you deal with:

1. Pain that’s stuck around longer than that one friend who just won’t leave your house party?

2. Chronic widespread pain for three months or more?

3. Random dislocations that happen without trauma (no, crashing into a door doesn’t count)?

If you’ve nodded along to at least one of these, congratulations — you’ve got a match.

Step Three: The Big "What It’s Not"

Before you’re handed the hEDS label, doctors need to rule out everything else. Because if diagnosing EDS wasn’t already confusing enough, it overlaps with conditions like Marfan syndrome and other types of EDS. Basically, it’s like a reverse game of Guess Who: “Does your condition have stretchy skin?” Flip. “Does it involve atrophic scars?” Flip. If all the wrong answers get ruled out, hEDS might just be your winner.

Other Types of EDS: A Crash Course

Hypermobile EDS may get the most attention, but it’s just one part of the EDS family. Here’s a whirlwind tour of the others:

• Classical EDS (cEDS): Think stretchy, fragile skin with scars that tell stories. Diagnosed through mutations in the COL5A1 or COL5A2 genes.

• Vascular EDS (vEDS): The scariest cousin in the EDS family, involving fragile arteries and skin translucency. It’s tied to COL3A1 gene mutations and comes with serious risks.

• Kyphoscoliotic EDS (kEDS): Severe hypotonia (low muscle tone) from birth, a spine that curves like a scenic mountain road, and mutations in the PLOD1 gene.

• Dermatosparaxis EDS (dEDS): Paper-thin skin and sagging that makes you look like a walking Renaissance painting. It’s caused by mutations in the ADAMTS2 gene.

  
  

Each type has its own flavor of chaos, and genetic testing is often the key to sorting them out.

Why the 2017 Criteria Matter (and Why They’re Still a Pain)

Here’s the deal: before 2017, diagnosing EDS was like herding cats — chaotic, exhausting, and not super effective. These criteria bring some much-needed structure to the process, but they’re not perfect. hEDS, for example, doesn’t yet have a genetic marker, which means it’s still a diagnosis of exclusion. And let’s not even get started on how long it can take to find a doctor who knows the criteria, let alone believes you.

But here’s the silver lining: the 2017 criteria are a step toward better awareness, better diagnoses, and better outcomes. If you’re in the process of seeking a diagnosis or wondering if your stretchy joints and persistent pain might mean something more, don’t give up. Advocate for yourself. Find a specialist. And remember, you’re not alone in this.

Final Thoughts: Living the EDS Life

Living with EDS is like being a real-life Elastigirl, but without the superpowers or the Pixar paycheck. The criteria may be complicated, but they’re a lifeline for so many people trying to find answers. Whether you’re at the start of your diagnosis journey or you’ve been here long enough to collect medical bingo cards, the 2017 criteria remind us of one thing: EDS is real, and it’s worth understanding.

So, here’s to the bendy, the brave, and everyone in between. Let’s keep raising awareness, sharing our stories, and pushing for a world where diagnosing EDS doesn’t feel like solving a Rubik’s Cube in the dark.