In Germany, EDS patients face long diagnostic delays and high disability
Hypermobile patients struggle with high disease burden, disjointed care: Study
For people living with hypermobile disorders like Ehlers-Danlos syndrome (EDS), the path to a correct diagnosis is often a long and difficult one, a new study suggests, leading to years of pain and a higher risk of serious health problems.
The German-based research highlights a significant disconnect in care, finding that despite frequent hospital visits and high healthcare use, patients still face a considerable disease burden and an increased rate of disability.
The study underscores the need for coordinated care with multidisciplinary teams trained in managing EDS and hypermobility spectrum disorder (HSD) and further research that aims to develop causal and evidence-based therapeutic approaches, researchers wrote.
The study, “Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective,” was published in the Orphanet Journal of Rare Diseases.
Tracing the patient journey
EDS and HSD affect connective tissues, which provide structure to joints and other tissues and organs. The disorders are characterized by symptoms of fragile, stretchy skin and joint hypermobility, where joints stretch further than their normal range.
Until recently, Germany lacked specialized EDS centers and a national registry, meaning there was limited data on healthcare for these conditions.
In the study, a team of researchers who established a dermatologic-orthopedic EDS outpatient service at the University Hospital of Cologne in Germany surveyed 99 adults diagnosed with EDS or HSD who had symptomatic generalized hypermobility.
“The objectives of the present survey were to examine the ‘medical journey’ and the disease burden of our patients,” they wrote.
Participants had a mean age of 35.9 years and were mainly women (87.9%). The majority had hypermobile EDS (hEDS) or HSD (80.8%), while 16.2% had classical EDS and 3% had classical-like EDS. Disease onset occurred at a median age of 7 years. Patients with classical or classical-like EDS had an earlier onset (5 vs. 10 years of age) and diagnosis (20.5 vs. 34 years) than those with hEDS/HSD.
The most commonly reported symptoms were joint hypermobility and dislocations (44.7%), musculoskeletal pain (35.1%), and skin issues (10.6%), such as stretchy skin, easy bruising, and prolonged wound healing.
“It is worrisome that these patients often witness a diagnostic delay of several decades to obtain the correct diagnosis making their complaints chronic and more difficult to treat,” the researchers wrote.
Nearly half of the participants (44.9%) were previously diagnosed with other diseases, while 63.6% used sources like social media or patient support groups to confirm their diagnosis or obtain more information.
It is worrisome that these patients often witness a diagnostic delay of several decades to obtain the correct diagnosis making their complaints chronic and more difficult to treat.
High disease burden and comorbidities
About a quarter of the participants had a recognized degree of disability of at least 50, corresponding to “severe disability” in Germany.
Most (60.2%) reported that musculoskeletal pain significantly affected their lives. Other symptoms, including joint problems, fatigue, and gastrointestinal issues, also impacted many patients.
Coexisting conditions, or comorbidities, were reported by nearly 80% of the patients, particularly those with hEDS/HSD. These mainly included asthma, depression, irritable bowel syndrome, and postural orthostatic tachycardia syndrome, which is marked by an abnormal increase in heart rate when standing up from sitting or lying down.
A higher proportion of hEDS/EDS patients (44.9%) had at least four comorbidities, compared with 21.1% of those in the classical or classical-like EDS group. The average number of days on sick leave in the previous three months was also significantly higher for those with hEDS/HSD (21.3 vs. 4.6 days).
Participants reported that at least 15 medical specialties were involved in their diagnosis and disease management, usually orthopedists, general practitioners, physiotherapists, neurologists, and dermatologists.
Almost all patients (94.9%) received physical therapy, and 85 reported undergoing surgical interventions (85%), because of orthopedic indications in most cases. Most patients required medications for pain management and received psychotherapy.
“Despite high utilization of health care, EDS/HSD patients have a high burden of disease reflected by a high percentage of disability and sick leave days in our survey,” the researchers wrote. “Our results point to the urgent necessity of a better coordinated, multidisciplinary care for patients with these [diseases] including innovative political structures, further research and international networking.”
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