Ehlers-Danlos syndrome

Ehlers-Danlos syndrome

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is considered a rare condition, although its prevalence is difficult to determine precisely due to variations in diagnostic criteria and awareness among healthcare professionals. It’s estimated to affect about 1 in 5,000 to 20,000 individuals worldwide. However, some experts believe that EDS may be underdiagnosed due to its wide range of symptoms and variability in presentation.

Ehlers-Danlos syndrome

What is Ehlers-Danlos syndrome

As stated in by the Ehlers-Danlos Society, Ehlers-Danlos syndromes (EDS) is defined as a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility.

There are several types of Ehlers-Danlos Syndrome, each with its own set of symptoms and characteristics. The most common types include:

  • Classical EDS (cEDS): Characterized by hyperextensible skin, atrophic scars, and joint hypermobility.
  • Hypermobility EDS (hEDS): Main features include joint hypermobility, chronic joint pain, and joint instability.
  • Vascular EDS (vEDS): The most serious form, marked by fragile blood vessels and organs, leading to potentially life-threatening complications such as arterial or organ rupture.
  • Kyphoscoliotic EDS (kEDS): Known for severe muscle weakness, kyphoscoliosis (an abnormal curvature of the spine), and joint hypermobility.
  • Arthrochalasia EDS (aEDS): Characterized by severe joint hypermobility and congenital hip dislocation.
  • Dermatosparaxis EDS (dEDS): Identified by extremely fragile, sagging skin with a high risk of rupture.
  • Brittle Cornea Syndrome (BCS): A subtype of EDS characterized by thinning and fragility of the cornea.

Should you test for Ehlers-Danlos Syndrome?

It’s important for Chiari Malformation /Syringomyelia patients to be tested for Ehlers-Danlos Syndrome (EDS) because EDS can significantly affect diagnosis, treatment, and surgical outcomes.

EDS Can Affect Surgical Outcomes
EDS is a connective tissue disorder that causes joint hypermobility and tissue fragility. If someone with Chiari also has EDS, they may be more prone to complications after decompression surgery, such as poor healing, cerebrospinal fluid leaks, or instability in the cervical spine.

It May Explain Unusual Symptoms
EDS can cause additional symptoms like joint pain, dislocations, digestive issues, fatigue, and autonomic dysfunction—all of which may not be fully explained by Chiari alone. Recognizing EDS helps create a more complete understanding of the patient’s condition.

Instability Risks
People with EDS are at higher risk for craniocervical instability (CCI) or atlantoaxial instability (AAI), which can worsen Chiari symptoms or mimic them. Diagnosing EDS can prompt imaging studies to check for these issues before pursuing surgery.

Treatment Plans Must Be Adjusted
Physical therapy, pain management, and surgical strategies must be tailored for those with both conditions. What works for someone with Chiari alone may not be safe or effective for someone with both Chiari and EDS.

ASAP and Ehlers-Danlos syndrome

Past conferences we have featured Ehlers-Danlos syndrome (EDS) with these speakers below.

2024 Conference:
Connective Tissue Disorders and Ehlers-Danlos Syndrome (EDS) & Chiari – Vincent Martin, MD

2022 Conference  Pain and EDS
Dr. Ruhoy

2022 Conference  Neuropsychiatric Manifestations of Mast Cell
Dr. Maitland

2021 Conference: The Pentad Patient
Ilene S Ruhoy, M.D., PhD

2020 Conference Connective Tissue Hypermobility: EDS & Chiari 1 Malformation in the Pediatric Patient
Robert Keating, MD

2020 Conference Identification of Rare Variants in Collagen Genes in Chiari Patients
by Allison Ashley Koch, PhD

2020 Conference: Outcomes of Occipito-Cervical Fusions in EDS Patients
Hal Rekate, MD