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Ehlers Danlos Syndrome: Can't get diagnosed
Chronic Pain | Last Active: Oct 19 2:34pm | Replies (20)Comment receiving replies
In 2024 I received an Invitae - Connective Tissue Disorders test
Genetic Counseling Summary
One or more variants of uncertain significance (VUS) were identified:
- COL1A2 gene, c.2083G>A (p.Glu695Lys)
- DCHS1 gene, c.1421G>A (p.Arg474His)
One or more variants of uncertain significance (VUS) were identified:
His features could be consistent with Ehlers-Danlos Syndrome, hypermobility type (hEDS), which does not currently have an identified genetic cause but is observed to be a dominant trait in families with variability. hEDS is a diagnosis made based on physical examination and a review of medical history.
Individuals may pursue an in-person physical exam with a specialist familiar with hEDS (clinical geneticist, rheumatologist, or physical therapist, among others) to determine if they meet the criteria for a clinical diagnosis of hEDS. Additional resources are enclosed at the end of this document.
I was provided with a Diagnostic Critria for Hypermobile Ehlers-Danlos Syndrome, hypermobility type (hEDS) for doctors across all disciplines to be able to diagnose EDS
I have a number of the critria.
I am attaching a pdf file Diagnostic Critria for Hypermobile Ehlers-Danlos Syndrome, hypermobility type (hEDS) to this post.
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I discussed my possible hypermobility type (hEDS) with 2 rheumatologists. Neither gave much creedence to Ehlers-Danlos Syndrome, hypermobility type (hEDS).
I'm under the impression that to receive a hypermobility type (hEDS) diagnosis one would have to have an in person consultation with a geneticist who is trained in Ehlers-Danlos Syndrome, hypermobility type (hEDS). Also, there doesn't seem to be a protocol of treatment for either.
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@vipp
After reading your post, first, I hope you’ve received more info from a geneticist and providers.
Particularly regarding the COLA1A2 gene
You wrote, “Genetic Counseling Summary.” Is this summary from the Invitae results description, or from a geneticist who reviewed it?
Second, did the geneticist who ordered and/or performed the test or their accredited staff review the results with you either on the phone or in-person?
I can’t comment on the DCHS1 gene or its variants/mutations, but the COL1A2 gene is correlated with Ehlers-Danlos Syndrome, of which there are many types (13, last time I read). The gene is also associated with other diseases.
I have hEDS, or EDS III (aka Ehlers-Danilo’s Syndrome, hypermobility type), and, as you wrote, hEDS doesn’t have an identified gene yet, so diagnosis is based on clinical presentation and history, and uses the Beighton Scale.
Unfortunately, in my experience, most rheumatologists don’t give credence to hEDS because it doesn’t have this genetic “proof”… yet, and There are some out there who do. I’ve found that a physiatrist/pain management specialist (some neurologists) or Sports Medicine and associated Physical Therapists (and perhaps orthopedist) are the best options for hypermobility and hEDS diagnosis, related and important testing and treatment to rule out other overlapping symptoms from other EDS types,* and improve function. For brevity’s sake, I’ll say that treatment is according to symptoms.
BUT, with an abnormal COLA1A2 gene finding, I hope you’ve found a provider to assess you for other EDS types, such as vascular, which may need more immediate attention and intervention.
The journey continues! Hang in there.