Disconnected medical records delay EDS diagnosis by about 8 years in US
More than 60% of patients receive care across multiple hospital networks
Written by |
People with Ehlers-Danlos syndrome (EDS) face an average eight-year wait for an accurate diagnosis, partly because no single hospital or clinic holds their complete medical history, according to a new analysis by Novellia Research.
The study found that about one-third of an EDS patient’s medical history sits in separate, unconnected health systems. Even in the single best-connected system a patient used, doctors could see only a median of 68% of that person’s linked records.
Because of this fragmentation, people with EDS navigate a maze of clinics while waiting nearly a decade for someone to connect the dots for a diagnosis.
“Folks living with Ehlers-Danlos often carry their history from a cardiologist to a gastroenterologist to an allergist in completely different health systems, then wait nearly eight years for someone to connect their symptoms to one diagnosis,” Shashi Shankar, co-founder and CEO of Novellia, said in a company press release.
Novellia offers a free platform designed to help patients bridge this divide by linking major U.S. health systems, converting paper documents into digital files, logging daily symptoms and medications, and producing shareable medical summaries for clinic visits. Patients can also choose to share their anonymized health data to help researchers find better treatment patterns.
Diagnostic delays and missing records
EDS is a group of rare, heritable connective-tissue disorders characterized by unusually mobile joints and soft, stretchy skin.
It often occurs alongside other conditions, including chronic body-wide pain, digestive trouble, and postural orthostatic tachycardia syndrome, which causes an abnormally fast heart rate and dizziness when standing. Many also develop mast cell activation syndrome, an immunological condition marked by severe allergic episodes.
Because the symptoms affect so many body systems, people with EDS must see a wide range of medical specialists. Most of these doctors work in separate systems that cannot read each other’s electronic charts.
To examine how this fractured care affects patients, Novellia gathered records from multiple networks to see whether linking electronic files could restore a complete picture of diagnoses and treatments.
Data were presented as a poster, titled “No single record tells the whole story: the fragmented diagnosis and treatment journey for patients with Ehlers-Danlos syndrome,” at the NORD Rare Diseases & Orphan Products Breakthrough Summit, held in Washington, D.C., this month. All study authors are employed by Novellia.
The analysis evaluated 494 adults with EDS (89.1% women) who gave permission to collect their records from every clinic they visited, and compared them with 2,965 adults (64.8% women) with rheumatoid arthritis, an autoimmune condition that causes painful joint inflammation.
About 62% of EDS patients had medical histories from two or more independent health systems. For nearly half of these patients, more than one-third of their records were missing from any single hospital system.
Tracking complex care across separate systems
To piece together at least 90% of a patient’s full record, researchers needed files from at least two separate systems in a majority of cases.
Compared with rheumatoid arthritis patients, those with EDS saw significantly more medical specialists (20 vs. 16), visited more care sites, and logged more doctor appointments per year (21.9 vs. 16.3). These gaps persisted even after researchers controlled for age, sex, and total volume of care.
Most multi-system patients (61%) were juggling appointments at different hospital networks at the same time, while 13% moved from one system to the next over time, and 26% showed a mix of both.
The median time from the first diagnostic record to the first EDS-specific code was eight years. The shortest measured timelines were seen among patients with data from only one system, indicating that “incomplete records understate how long diagnosis takes,” the company stated in its release.
According to The Ehlers-Danlos Society, the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders plans to release updated classification guidelines, followed by a new diagnostic pathway for clinicians in March 2027.
“When patients have their full story in one place, they can walk into every appointment ready to advocate for their own care,” Shankar said. “And when they choose to share it, de-identified, with researchers, it helps build better treatments and an easier path for the next family.”
Leave a comment
Fill in the required fields to post. Your email address will not be published.