Once your gene (enzyme) research is published, there will be something to build on. The diagnostic criteria for hEDS also need to be better thought out. Many doctors see them as non-specific; for instance, Mitral Valve Prolapse (MVP) affects approximately three per cent of the population, and women are twice as likely to be diagnosed as men. However, what percentage of women with hEDS have mitral valve prolapse is not known. A percentage often thrown around is that 28%–67% of hEDS patients have MVP, but this nonsense can be traced back to a paper that indicated that 28%–67% of hEDS patients have variable ECG subclinical anomalies, i.e. so not MVP in itself but ECG subclinical anomalies, yet the diagnostic criteria encompasses MVP only and aortic root dilation with Z-score >+2. Aortic root dilation with Z-score >+2 is diagnostic in Marfan Syndrome, not hEDS (if it is diagnostic, where are the studies indicating it is)?
Omitting structural issues such as (occult) tethered cord syndrome as part of the hEDS diagnostic criteria is another mad issue despite Brock et al. (2021) finding a prevalence of 40% of (occult) tethered cord syndrome in hEDS, especially since such structural issues can now be diagnosed with somatosensory evoked potentials, and motor evoked potentials looking at Central Motor Conduction Time (CMCT) and Peripheral Motor Conduction Time (PMCT) see for example; Kamei, N., Nakamae, T., Nakanishi, K., Morisako, T., Harada, T., Maruyama, T., & Adachi, N. (2022). Comparison of the electrophysiological characteristics of tight filum terminale and tethered cord syndrome. Acta neurochirurgica, 164(8), 2235–2242. https://doi.org/10.1007/s00701-022-05298-4
This is an important post that I'm glad you wrote, Cort!
Given that you've found hEDS is more prevalent in women, I would expect that the broad gap in women's health funding by the NIH and VCs are further exacerbating this disparity.
Once your gene (enzyme) research is published, there will be something to build on. The diagnostic criteria for hEDS also need to be better thought out. Many doctors see them as non-specific; for instance, Mitral Valve Prolapse (MVP) affects approximately three per cent of the population, and women are twice as likely to be diagnosed as men. However, what percentage of women with hEDS have mitral valve prolapse is not known. A percentage often thrown around is that 28%–67% of hEDS patients have MVP, but this nonsense can be traced back to a paper that indicated that 28%–67% of hEDS patients have variable ECG subclinical anomalies, i.e. so not MVP in itself but ECG subclinical anomalies, yet the diagnostic criteria encompasses MVP only and aortic root dilation with Z-score >+2. Aortic root dilation with Z-score >+2 is diagnostic in Marfan Syndrome, not hEDS (if it is diagnostic, where are the studies indicating it is)?
Omitting structural issues such as (occult) tethered cord syndrome as part of the hEDS diagnostic criteria is another mad issue despite Brock et al. (2021) finding a prevalence of 40% of (occult) tethered cord syndrome in hEDS, especially since such structural issues can now be diagnosed with somatosensory evoked potentials, and motor evoked potentials looking at Central Motor Conduction Time (CMCT) and Peripheral Motor Conduction Time (PMCT) see for example; Kamei, N., Nakamae, T., Nakanishi, K., Morisako, T., Harada, T., Maruyama, T., & Adachi, N. (2022). Comparison of the electrophysiological characteristics of tight filum terminale and tethered cord syndrome. Acta neurochirurgica, 164(8), 2235–2242. https://doi.org/10.1007/s00701-022-05298-4
I could go on, but I'll stop.
This is an important post that I'm glad you wrote, Cort!
Given that you've found hEDS is more prevalent in women, I would expect that the broad gap in women's health funding by the NIH and VCs are further exacerbating this disparity.