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Ehlers Danlos Syndrome: Can't get diagnosed
Chronic Pain | Last Active: Oct 19 2:34pm | Replies (20)Comment receiving replies
@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.
Replies to "@vipp After reading your post, first, I hope you’ve received more info from a geneticist and..."
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@tjfrees 10/19/2025
I had the conditions and symptoms of possibly Marfan Syndrome. I contacted the Marfan Foundation. It was determined that I should receive a complete Aortopathy Genetic Panel through Invitae.
I was referred to a Cardiovascular and Thoracic surgeon, who ordered a Connective Tissue Disorders Genetic Panel through Invitae.
The surgeon treats patients with Cardiovascular conditions related to Marfan Syndrome.
I didn't have a fibrillin-1 gene mutation and was negative for Marfan Syndrome.
My summary from the Invitae results description, was from a geneticist who works at Invitae.
Also, I received a 30 minute phone conversation with a Invitae geneticist regarding my genetic test results.
Variants of uncertain significance are genetic changes that are not well understood.
I was told that I am in the genetic database and perhaps in several years they might understand the significance.
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< I can’t comment on the DCHS1 gene or its variants/mutations, but the COL1A2 gene is correlated with Ehlers-Danlos Syndrome,>
How was that determined?
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I found that COL1A2 Type I collagen Autosomal Recessive Severe heart valve insufficiency - 'non-classic forms' include COL1A2
My 2025 Echocardiogram Interpretation Summary indicates
Mildly reduced left ventricular systolic function with EF of 45-50%. There is global LV hypokinesis.
Proximal ascending aorta is dilated at 3.9 cm
There is a small a loculated pericardial effusion anterior to the right ventricle.
I have consulted with 3 cardiologists and my cardiology condition is being monitored with no proposed treatment.
< most rheumatologists don’t give credence to hEDS because it doesn’t have this genetic 'proof' yet>
I agree. I have consulted with 3 rheumatologists regarding chronic inflammatory pain and when I mention my Invitae Connective Tissue Disorders Genetic Panel results it is no given credence.
It is my understanding, I would need an in-person physical exam with a specialist familiar with hEDS preferably a geneticist to receive a Ehlers-Danlos Syndrome, hypermobility type (hEDS) diagnosis.
I have been diagnosed with several connective tissue diseases.
Years ago, I was diagnosed with Dupuytren disease.
Years,later , I developed a frozen left shoulder.
Severe Dupuytren disease may also be associated with frozen shoulder (adhesive capsulitis of shoulder),
2023 I was diagnosed with Pelvic floor dyssynergia related to weak pelvic floor muscles.
Hypermobility Ehlers-Danlos Syndrome (hEDS) can lead to pelvic floor dyssynergia.
I have had recurrent multiple abdominal hernias.
Thank for your response to my Ehlers-Danlos Syndrome post.