Ehlers-Danlos Syndrome (EDS) is often referred to as a “medical zebra” due to its subtle and varied presentation. Many healthcare professionals are trained to prioritize more common diagnoses, leading them to “look for horses, not zebras.” Consequently, individuals with EDS may spend years, or even decades, without receiving an accurate diagnosis, often being misdiagnosed with conditions that exhibit similar symptoms.
Both EDS and fibromyalgia are characterized by widespread pain, fatigue, and joint problems, which can prompt doctors to initially diagnose fibromyalgia. However, as Dr. Katinka points out, “Fibromyalgia is a diagnosis of exclusion—it describes symptoms without identifying a specific cause. In contrast, EDS is a structural disorder that impacts collagen and connective tissue throughout the body.”
Those with EDS often experience severe fatigue, which can lead to misdiagnosis as Chronic Fatigue Syndrome (ME/CFS). While both conditions share the symptom of exhaustion, CFS typically does not present with hypermobility, skin fragility, or frequent joint dislocations—key indicators of EDS.
Hypermobile Spectrum Disorders (HSD) are frequently mistaken for EDS, particularly the hypermobile type (hEDS). Although both conditions involve joint hypermobility, EDS is associated with more extensive connective tissue issues, such as fragile skin, vascular complications, and digestive problems.
Because EDS can lead to joint pain, inflammation, and symptoms resembling autoimmune disorders, some patients are initially misdiagnosed with rheumatoid arthritis (RA) or lupus. However, these conditions are autoimmune diseases where the immune system attacks the body’s tissues, whereas EDS is a genetic connective tissue disorder.
Dr. Katinka notes, “It’s not unusual for patients to be told their pain stems from arthritis, even when their joints are hypermobile rather than degenerating.”
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