How to Test for Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Diagnosing EDS can be challenging due to its varied symptoms and overlapping characteristics with other conditions. Here's a guide on how EDS is tested and diagnosed.

Understanding EDS and Its Types

EDS encompasses 13 different subtypes, each with distinct genetic causes and clinical features. The most common form is Hypermobile EDS (hEDS), which lacks a known genetic marker, making its diagnosis based solely on clinical criteria. Other types, such as Classical EDS (cEDS) and Vascular EDS (vEDS), have specific genetic markers that can be identified through testing.

Clinical Evaluation and History

The first step in diagnosing EDS involves a thorough clinical evaluation and detailed patient history. Physicians look for the hallmark features of EDS, including:

• Joint hypermobility
• Skin that is unusually stretchy, soft, or fragile
• Easy bruising and abnormal scarring
• Chronic pain and fatigue
• A history of frequent joint dislocations or subluxations

The Beighton Score

One of the primary tools used to assess joint hypermobility is the Beighton scoring system. This 9-point scale evaluates hypermobility in various joints:

• Little Fingers: Can the little finger bend backward beyond 90 degrees? (1 point for each hand)
• Thumbs: Can the thumb touch the forearm? (1 point for each thumb)
• Elbows: Do the elbows extend more than 10 degrees beyond a straight line? (1 point for each elbow)
• Knees: Do the knees bend backward more than 10 degrees? (1 point for each knee)
• Spine: Can the patient place their hands flat on the floor without bending their knees? (1 point)

A score of 5 or more out of 9 in adults, 6 or more in children, and 4 or more in those over 50 years suggests generalized joint hypermobility, a key indicator of EDS.

Genetic Testing

For some types of EDS, genetic testing can confirm the diagnosis. This involves analyzing a blood sample for mutations in specific genes known to cause EDS. For instance:

• Classical EDS (cEDS): Mutations in the COL5A1 or COL5A2 genes
• Vascular EDS (vEDS): Mutations in the COL3A1 gene
• Kyphoscoliotic EDS (kEDS): Mutations in the PLOD1 gene

These tests are crucial for confirming the diagnosis and differentiating between the various types of EDS.
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Testing for Hypermobility

This short hypermobility quiz can assist in identifying patients with hypermobility. The screening questions have been validated through peer-reviewed research. While the quiz can be helpful in identifying potential cases of Ehlers-Danlos Syndrome (EDS), it should not be the sole factor in making a diagnosis.

Hypermobility Quiz

Answer the following questions to determine if you may have hypermobility*:

1. Can you now, or could you ever, place your hands flat on the floor without bending your knees?
   • Yes
   • No
2. Can you now, or could you ever, bend your thumb to touch your forearm?
   • Yes
   • No
3. As a child, did you amuse your friends by contorting your body into strange shapes or could you do splits?
   • Yes
   • No
4. As a child or teenager, did your kneecap or shoulder dislocate on more than one occasion?
   • Yes
   • No
5. Do you consider yourself “double-jointed”?
   • Yes
   • No

How many questions did you answer with a "yes"? 

• Less than two "Yes" answers
• Two or more "Yes" anwers

*The results of this quiz are not a diagnosis and I should consult a medical professional for an accurate assessment.

Frequently Asked Questions

How is EDS diagnosed?
‍EDS is diagnosed through a combination of clinical evaluation, patient history, Beighton scoring, and, when applicable, genetic testing.

How do I know if I have EDS or Hypermobility?
‍Differentiating between EDS and generalized joint hypermobility involves a comprehensive evaluation by a healthcare provider, including the Beighton score and an assessment of associated symptoms and family history.

Who can diagnose EDS?
‍EDS is typically diagnosed by a geneticist, rheumatologist, or a specialist in hereditary connective tissue disorders. General practitioners may also identify signs and refer patients to specialists.

How do you confirm Ehlers-Danlos syndrome?
‍EDS is confirmed through clinical evaluation and, where applicable, genetic testing to identify mutations associated with specific subtypes of EDS.

What can be mistaken for Ehlers-Danlos?
‍Conditions that can be mistaken for EDS include Marfan syndrome, Loeys-Dietz syndrome, joint hypermobility syndrome, and other connective tissue disorders due to overlapping symptoms.

What is the pinch test for Ehlers-Danlos syndrome skin?
‍The pinch test involves gently pinching the skin to assess its elasticity and ability to return to normal shape. Skin that is unusually stretchy and slow to return can be an indicator of EDS, but it is difficult to assess whether something is within the normal range without lots of clinical experience evaluating skin.

What is the rubber glove test for EDS?
‍The rubber glove test assesses skin texture and elasticity by feeling the skin for a texture that may resemble that of a rubber glove, which can indicate the hyperextensibility characteristic of EDS. This is rarely used by doctors today.

Why is EDS controversial?
‍EDS can be controversial due to the difficulty in diagnosing certain types, particularly Hypermobile EDS (hEDS), which lacks a definitive genetic marker. This has led to debates among medical professionals about diagnostic criteria and the classification of symptoms.

How to get tested for EDS?
‍To get tested for EDS, start by consulting your primary care physician, who may refer you to a specialist such as a geneticist, rheumatologist, or a specialty clinic for Ehlers-Danlos Syndrome for further evaluation and testing.

How do doctors test for EDS?
‍Doctors test for EDS through a combination of clinical evaluation, patient history, and genetic testing. They may use the Beighton score to assess joint hypermobility and order genetic tests to identify specific mutations.

Is there a blood test for EDS?
‍Yes, there are blood tests available for certain types of EDS. These tests analyze blood samples to identify specific genetic mutations associated with the different subtypes of EDS, but most cases of EDS do not have known genetic markers.

Does 23andMe test for EDS?
‍As of now, 23andMe does not specifically test for EDS. Genetic testing for EDS typically involves more specialized and comprehensive tests conducted by healthcare professionals. Most cases of EDS do not have genetic markers.

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References

• Hakim, A. J., & Grahame, R. (2003). A simple questionnaire to detect hypermobility: An adjunct to the assessment of patients with diffuse musculoskeletal pain. International Journal of Clinical Practice, 57(3), 163–166. https://pubmed.ncbi.nlm.nih.gov/12723715/
• NCBI: A Review of Ehlers-Danlos Syndrome
• The Ehlers-Danlos Society: Hypermobile EDS Diagnostic Criteria Checklist

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