Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders affecting the body’s connective tissues, which provide structure and support to virtually every organ system. These conditions stem from a genetic defect in the production or processing of collagen, the protein responsible for tissue strength and elasticity. Because EDS is a multi-systemic disorder, its management is complex and often requires coordination across several medical specialties. This article clarifies the distinct but interconnected roles a rheumatologist plays in the long-term management of Ehlers-Danlos Syndrome.
Understanding Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a spectrum of at least 13 distinct subtypes, all characterized by features related to faulty connective tissue. The underlying cause is a mutation in genes that code for collagen or the proteins that interact with it. The fundamental characteristics of EDS are joint hypermobility, skin hyperextensibility, and generalized tissue fragility.
The most common form is Hypermobile EDS (hEDS), which is diagnosed solely through clinical criteria because the specific causative gene mutation has not yet been identified. This type often presents with recurrent joint dislocations and chronic, widespread musculoskeletal pain. EDS affects approximately 1 in 5,000 people globally, though the true prevalence may be higher due to underdiagnosis.
The Role of Rheumatologists in EDS Care
Rheumatologists are physicians specializing in diseases of the musculoskeletal system, including joints, muscles, and soft tissues. They are often the specialists who first recognize the pattern of symptoms in patients with hEDS, as joint instability and chronic pain are primary features of the condition. They do not typically provide the definitive genetic diagnosis.
A primary function of the rheumatologist is to assess and monitor the degree of joint hypermobility, often using tools like the Beighton score. They are skilled at differentiating the mechanical, hypermobility-related joint pain of EDS from inflammatory conditions, such as rheumatoid arthritis, which require different treatments.
Rheumatologists also play a significant role in the initial management of musculoskeletal symptoms. They manage soft tissue pain, including conditions like tendinitis and bursitis, which occur more frequently in individuals with fragile connective tissue. They commonly prescribe initial physical therapy protocols aimed at strengthening the muscles surrounding unstable joints to improve stability and reduce the frequency of subluxations and dislocations.
The Diagnostic Journey and Specialist Confirmation
The path to a definitive EDS diagnosis usually begins with a specialist who recognizes the pattern of joint hypermobility and other systemic features. While a rheumatologist may be the first to raise suspicion, the formal diagnosis and classification of the EDS subtype rest with a Clinical Geneticist. This distinction is necessary because EDS is fundamentally a genetic disorder.
For the 12 types of EDS other than hEDS, a geneticist confirms the diagnosis through targeted genetic testing on a blood sample, identifying the specific mutation. For hEDS, the geneticist uses the comprehensive 2017 International Classification criteria, which incorporates a detailed family history and physical examination. The diagnosis relies entirely on meeting these strict clinical criteria since there is no identifiable gene marker for hEDS.
The rheumatologist often acts as a gatekeeper, recognizing the musculoskeletal signs and referring the patient to the geneticist for formal confirmation. Following a definitive diagnosis, the geneticist provides crucial information about the specific subtype, inheritance pattern, and potential associated risks, which guides the development of a comprehensive, long-term management plan.
Comprehensive, Multi-Disciplinary Management
Managing Ehlers-Danlos Syndrome requires a coordinated, multi-disciplinary team approach that addresses the condition’s wide-ranging effects on the body. Successful care extends far beyond rheumatology and genetics to include specialists who manage other affected organ systems.
Physical Therapists are core members of the team, focusing on programs to enhance core stability, improve proprioception, and teach safe movement to prevent injury. Occupational Therapists help patients adapt daily activities to protect vulnerable joints and conserve energy. Pain Management Specialists often contribute with non-pharmacological and pharmacological strategies to address the chronic, multifactorial pain common in hEDS.
Other specialists are brought in based on the patient’s specific subtype and systemic involvement:
- Cardiologists are essential for monitoring patients with Vascular EDS (vEDS) due to the risk of arterial and organ rupture.
- Gastroenterologists may manage common gastrointestinal motility issues.
- Neurosurgeons may be involved in cases of craniocervical instability.
The rheumatologist’s role in this structure is to continue overseeing musculoskeletal health, ensuring that joint-related symptoms are consistently and conservatively managed within the broader care plan.