Emerging reports suggest patients with EDS/HCTD suffer from neurological symptoms, many of which may be amenable to treatment if diagnosed accurately. However, these symptoms and their impact on patient functioning have not yet been described.
Understand neurological symptoms and symptom burden in the EDS/HCTD population. Methods: This study was a cross-sectional population-based survey targeting Canadians with EDS/HCTD; it was disseminated electronically through social media platforms via cluster and snowball sampling. Respondents scored the following symptoms on a 5-pt scale (absent–severe): headache, seizure, vision problems, tinnitus, dysphagia, ataxia, vertigo, nausea/vomiting, sensory deficits, urinary retention, weakness, syncope, insomnia, fatigue, memory problems. Impact on the patient population and healthcare system were assessed by: (a) symptom severity and frequency, (b) disability ratings, (c) symptom prevalence in the sample, and (d) rates of healthcare utilization.
Our survey had 454 respondents, and 373 completed the survey. Of these, 260 subjects had a diagnosis of EDS/HCTD and were included for analysis. Most patients were female (93%), mean age of respondents was 38 and ranged from 5 to 81. 202 (83%) reported at least one neurological symptom, with 114 (56%) experiencing their most severe symptoms nearly every day or more. Almost all respondents (95%) were significantly disabled by their neurological symptoms, and 39% had seriously considered suicide. On average, patients reported seeing 10–20 different specialists/physicians since the onset of their symptoms. A positive correlation between neurological disability and healthcare utilization was established (R=0.3, p<0.0001).
Selection bias likely yielded a cohort with disproportionate rates of neurological symptoms and higher disability scores. There were challenges defining neurological symptoms and establishing diagnostic certainty of EDS/HCTD.
This study is the first to provide a population-based description of neurological symptoms in those with EDS/HCTD, and suggests that the burden of symptoms amongst Canadian patients is significant.