how do you test for eds

3 min read 18-12-2024

Meta Description: Diagnosing Ehlers-Danlos syndromes (EDS) can be complex, involving a combination of physical examination, detailed medical history, and sometimes genetic testing. Learn about the diagnostic process for EDS, the challenges involved, and what to expect from your doctor. This comprehensive guide explains the various tests and evaluations used to determine if you have EDS. This information is for educational purposes and should not replace professional medical advice.

Understanding the Diagnostic Process for Ehlers-Danlos Syndromes (EDS)

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Diagnosing EDS can be challenging because symptoms vary widely between individuals and even between different types of EDS. There isn't one single definitive test. Instead, diagnosis relies on a combination of approaches.

The Importance of a Thorough Medical History

Your doctor will start by taking a detailed medical history. This includes:

Family history: EDS is often inherited, so family history of similar symptoms is crucial.
Symptom timeline: When did symptoms begin? How have they progressed?
Specific symptoms: Describe joint hypermobility, skin hyperextensibility, easy bruising, fatigue, and other relevant issues.
Past medical records: Provide any relevant medical records from previous doctors.

This detailed history helps narrow down the possibilities and guide further testing.

Physical Examination: Key Observations

A physical exam is essential. The doctor will assess:

Joint hypermobility: They'll check the range of motion in your joints. Behler's criteria are sometimes used for a quantified measure of joint hypermobility.
Skin hyperextensibility: The doctor will assess how far your skin can be stretched.
Skin fragility: They'll check for easy bruising, scarring, or other signs of fragile skin.
Other physical findings: Depending on the suspected type of EDS, they may check for things like vascular fragility, organ involvement, or other specific symptoms.

Diagnostic Criteria and Classification

There's no single blood test for EDS. Diagnosis relies on meeting specific diagnostic criteria established by the international classification. These criteria vary depending on the specific type of EDS. The criteria emphasize the clinical presentation rather than genetic testing alone. There are several types of EDS, each with its own set of diagnostic features.

The main types of EDS include:

Hypermobility spectrum disorders (hEDS): Characterized primarily by joint hypermobility.
Classical EDS (cEDS): Involves skin hyperextensibility, joint hypermobility, and characteristic features.
Vascular EDS (vEDS): A serious form involving fragile blood vessels.
Kyphoscoliosis EDS (kEDS): Associated with severe curvature of the spine.
Arthrochalasia EDS (aEDS): Includes severe joint dislocations and hypermobility.
Other less common types.

Your doctor will use the physical exam, medical history, and possibly additional tests to determine which, if any, EDS type you may have.

Genetic Testing: When is it Used?

Genetic testing isn't always necessary for an EDS diagnosis. However, it can be helpful in some cases, particularly when:

The clinical picture is unclear: If symptoms don't clearly fit into one EDS type.
A specific gene mutation is suspected: Family history might indicate a particular genetic cause.
Confirmation is needed: Genetic testing can confirm a suspected diagnosis.

Genetic testing may identify specific gene mutations associated with certain EDS types. However, negative genetic results don't rule out EDS, as not all genetic causes are currently known.

Challenges in Diagnosing EDS

Diagnosing EDS can be challenging for several reasons:

Overlapping symptoms: Symptoms can overlap with other conditions.
Variability in symptoms: Symptoms can vary greatly between individuals.
Lack of awareness: Many healthcare professionals lack familiarity with EDS.
Subjective nature of some criteria: Some diagnostic criteria are based on subjective assessments.

This complexity often leads to significant diagnostic delays.

Finding a Specialist: The Importance of a Qualified Healthcare Provider

Because of these challenges, seeing a specialist is often recommended. Specialists such as geneticists, rheumatologists, or orthopedists experienced in EDS can provide the expertise needed for accurate diagnosis.

What to Expect During the Diagnostic Process

Expect a thorough examination and comprehensive discussion of your symptoms and family history. The doctor may refer you for additional tests or consultations depending on your specific situation. The process can be lengthy, and finding the right specialist can take time. Patience and persistence are often necessary.

Remember, this information is for educational purposes only. Always consult with a qualified healthcare professional for diagnosis and treatment of EDS or any medical condition.