The Diagnostic Journey: How hEDS and HSD are Identified

Diagnosing hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) changed significantly in 2017. Because there is currently no blood test or genetic test that can “prove” someone has hEDS, doctors use a strict set of clinical criteria—essentially a checklist of physical signs and medical history ^[1][2].

This process is designed to be rigorous. If you don’t meet every single requirement for hEDS, but have symptomatic hypermobility and have had other causes excluded, you may be diagnosed with HSD instead. It is important to remember that the management and the reality of your symptoms are often the same regardless of which label you receive ^[3].

Step 1: The Beighton Score (Criterion 1)

The first step is checking for Generalized Joint Hypermobility (GJH). Doctors use the Beighton Score, a 9-point exam that tests specific joints ^[4]:

• Pinky Fingers: Can you bend them backward past 90 degrees? (1 point per side)
• Thumbs: Can you push your thumb back to touch your forearm? (1 point per side)
• Elbows: Do they hyperextend (bend backward) more than 10 degrees? (1 point per side)
• Knees: Do they hyperextend more than 10 degrees? (1 point per side)
• Spine: Can you put your palms flat on the floor without bending your knees? (1 point)

Age Matters

Because we naturally become stiffer as we age, the “passing” score changes ^[5]:

• Children/Adolescents: Current pediatric frameworks generally use pediatric hypermobility categories and defer an hEDS label until biological maturity rather than applying the adult diagnosis simplistically to all children. When assessing generalized joint hypermobility, children usually require a score of 6 or higher ^[6].
• Adults (up to age 50): Usually require a score of 5 or higher ^[7].
• Adults (over age 50): Usually require a score of 4 or higher ^[5].

The 5-Part Questionnaire (5PQ)

If your score is exactly one point below the cutoff, your doctor may use a historical questionnaire. If you answer “yes” to at least two of these, it can count as evidence of historical hypermobility ^[8][7]:

1. Can you now (or could you ever) place your hands flat on the floor without bending your knees?
2. Can you now (or could you ever) bend your thumb to touch your forearm?
3. As a child, did you amuse your friends by contorting your body or doing the splits?
4. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
5. Do you consider yourself “double-jointed”?

Step 2: Systemic Features and Family (Criterion 2)

To meet Criterion 2, you must satisfy two out of three of the following sub-categories ^[1]:

• Feature A (Systemic Signs): You need at least 5 out of 12 specific signs that your connective tissue is affected elsewhere. These include unusually soft or velvety skin, mild skin stretchiness, unexplained stretch marks, certain types of hernias, or specific findings on a heart ultrasound (echocardiogram) like mitral valve prolapse ^[9][10].
• Feature B (Family History): Having a parent, sibling, or child who independently meets the 2017 criteria for hEDS ^[11].
• Feature C (Musculoskeletal Complications): You must have chronic pain in two or more limbs for at least 3 months, chronic widespread pain for at least three months, OR a history of recurrent joint dislocations or frank joint instability in the absence of trauma ^[3].

Step 3: Ruling Everything Else Out (Criterion 3)

The final step is making sure your symptoms aren’t better explained by something else. This is where Differential Diagnosis comes in ^[12]. Your doctor must confirm that you do not have:

• Other types of EDS (like Classical or Vascular EDS).
• Other heritable connective tissue disorders like Marfan Syndrome or Loeys-Dietz Syndrome ^[13][14].
• Autoimmune or inflammatory conditions (like Rheumatoid Arthritis) that might cause your joint pain ^[12].

The Role of Genetic Testing

There is no genetic test for hEDS. If your doctor orders genetic testing, they are usually trying to rule OUT more rare and potentially serious conditions ^[15].

Testing is typically recommended if you have “red flags” such as ^[9][16]:

• A family history of early aneurysms or organ ruptures.
• Extremely fragile skin that tears easily or heals with “cigarette paper” scars.
• Significant heart or blood vessel issues found on imaging.

If your genetic testing comes back negative, it does not confirm hEDS or HSD; it simply means the specific genetic conditions tested for are much less likely. hEDS remains a clinical diagnosis based on how your body looks and functions, made after other conditions have been appropriately excluded ^[17][18].