Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders caused by defects in collagen structure or production. Collagen is a protein that gives strength and flexibility to skin, joints, blood vessels, and other tissues throughout the body. EDS causes symptoms including hypermobile joints, chronic pain, skin that bruises or stretches easily, and fatigue. There are 13 recognized subtypes. Hypermobile EDS (hEDS) is the most common form and does not yet have a confirmed genetic marker, which makes it a clinical diagnosis based on history and physical examination.

EDS is diagnosed through a clinical evaluation by a specialist experienced with connective tissue disorders. Diagnosis involves a detailed review of personal and family medical history, physical examination (including joint mobility assessment using the Beighton Score), and for some subtypes, genetic testing. At MUSC Health, the diagnostic process includes a comprehensive two-part consultation with an EDS specialist, which incorporates spirometry and orthostatic testing. Not all EDS subtypes can be confirmed through genetic testing, which is why specialist expertise is essential.

There are 13 recognized subtypes of EDS, each defined by distinct symptoms, affected body systems, and in most cases, a known genetic cause. The most common subtype is hypermobile EDS (hEDS), which primarily affects joints and causes widespread pain. Classical EDS is characterized by skin hyperextensibility and fragility. Vascular EDS is the most serious subtype and involves fragile blood vessels and internal organs. Other subtypes affect the spine, skin, eyes, and periodontal tissues. An EDS specialist can identify which subtype applies to your situation.

There is currently no cure for EDS, but symptoms can be effectively managed with coordinated, multidisciplinary care. Treatment is tailored to each patient's specific subtype and symptoms and may include physical therapy, pain management, orthopedic support, cardiovascular monitoring, mental health support, and lifestyle modifications. Early, coordinated care can significantly improve quality of life and prevent complications. The MUSC Health EDS Center creates individualized care plans for each patient based on their specific needs and health history.

The MUSC Health EDS Center is a specialized program designed to provide comprehensive care for patients with Ehlers-Danlos Syndrome. The Center offers two care models: a consultation model for patients seeking diagnosis and a treatment plan, and a subscription-based ongoing care model for patients who require continuous, coordinated support. The program is staffed by EDS-specialized clinicians and care navigators, and maintains a small patient base in the subscription model to ensure individualized attention.

Yes. Patients who have received a genetic EDS diagnosis from a provider outside of MUSC Health may be eligible for the subscription care model. After a referral to the Center and a single consultation to review your records and diagnosis, you may be accepted as a subscription patient. Contact the EDS Center to discuss your specific situation.

A consultation at the MUSC Health EDS Center consists of two in-person visits. Before your first visit, you will complete a comprehensive patient questionnaire. At your first appointment, your provider will conduct a thorough evaluation, including spirometry and orthostatic testing. Bloodwork may be ordered before your second visit, which is typically scheduled 4 to 5 weeks later. After both visits, you will receive a diagnosis (if applicable) and a personalized treatment plan to guide your ongoing care.

The MUSC Health EDS Center currently serves patients aged 16 and older. The Center does not provide care for pediatric patients at this time. For patients under 16 with a suspected EDS diagnosis, please discuss referral options with your primary care provider.

The EDS Center accepts most major insurance plans. A complete list of accepted insurance plans is available at muschealth.org/patients-visitors/insurance/plans. Please note: the Center is currently unable to accept patients with out-of-state Medicaid. If you have questions about your specific coverage, contact the Center before scheduling.

Patients enrolled in the subscription care model pay an annual Subscription Fee of $3,000 in addition to what is billed to insurance. This fee covers services deemed medically appropriate by the care team that may not be covered by your health insurance plan, as outlined in the Subscription Agreement. The fee is due in full at your first subscription appointment and then annually. Payment plans are not currently available for the annual fee. Patients with out-of-state or out-of-network insurance will be billed in addition to the annual fee and may incur additional costs.

MUSC Health EDS Center provides services covered by insurance as part of the subscription program. Whether the subscription fee qualifies as a reimbursable medical expense under your HSA, FSA, MSA, or HRA depends on the rules of your specific account. We recommend checking with your account administrator to determine eligibility before your first appointment.

Yes, patients may terminate their Subscription Agreement. A prorated refund of the subscription fee, not to exceed a total of six months fee, is available in limited circumstances: if the Center is unable to continue providing services, or if either party provides at least 6 months' advance notice of termination. Refunds are not available for newly hospitalized or acutely ill patients, regardless of whether a wellness exam has been performed.

This is your choice as the patient. For patients in the Charleston area, the EDS Center care team can serve as your primary care provider. You may also choose to keep your existing primary care provider; in that case, the EDS Center team will work collaboratively with your provider to coordinate your care. If you choose not to enroll in the subscription model after your consultation, your EDS Center specialist will assist with coordinating your care through your treatment plan.

Patients will be seen at the MUSC Ehlers-Danlos Syndrome Center office. Your care team will develop an evidence-based plan to provide you with all appropriate recommended screenings, which could occur in the office or at another MUSC- affiliated office.

Members of the Subscription Program will also receive the following as part of their membership:

• Sleep Disorder Screening
• Fall Risk Assessments
• Other Lifestyle Assessments
• Mental Health Screening
• Other Health Screenings as may be deemed appropriate by the care team, including immune disorders, neuropsychiatric disorders, including mental health evaluation and treatment services, and other specialized medical services

Patients reserve the right to seek care from outside specialists and hospitals.

MUSC Ehlers-Danlos Syndrome Center Subscription Agreements extend only to the individual patient; there is currently no family discount. Additionally, MUSC Ehlers- Danlos Syndrome Center physicians do not provide care to pediatric patients.Patients are required to be 16 years of age or older to apply.

All services provided within the Center will be billed to your insurance and/or covered by the Subscription Fee. You will be responsible for any services rendered outside of the Center, such as labs, specialty referrals, medications, testing, etc. We encourage you to check with your insurance provider before receiving additional services.

Yes. A referral from your healthcare provider is required to be seen at the MUSC EDS Center.

This helps ensure we receive the necessary clinical information to coordinate your consultation effectively. Your referring provider can fax the referral and supporting documentation to our office at 843-985-9295.