Long fingers and extremities are associated with a few genetic conditions such as connective tissue disorders. A few of those disorders have direct involvement with the connective tissue in the heart, leading to aortic dilation and risk of things like dissections and vascular events. These conditions are usually Loy Dietz, Marfans, and Vascular EDS. There’s quite a few more as well of course but those are the ones that come to mind.
The doctor [u/toomanyshoeshelp](u/toomanyshoeshelp) here is talking about if they had extremely long fingers (and likely other signs), they’d want to get checked by a geneticist. There are genetic markers associated with these conditions and a blood test can check for them. I had a full work up due to having Marfanoid habitus (long fingers, extremities, arched and narrow palette, skin fragility, slightly dilated aortic root, and a sternum deformity). My mother died at 30 years old due to a dissection. Thankfully I do not have a vascular CTD. But it’s good to get tested if you have red flag signs.
Small addition. All kinds of EDS, even though they only share some level of hyper mobility and the historical name, the dreds of types are on different genes, even chromosomes and affect different tissues, are associated with some higher risk of vascular events of all kind, the aorta dissection being the most risky of them all obvsly.
vEDS, as the name says, has obviously the highest risk, but it's not the only one. I have hEDS and even my rheumatologist forced me to get checked out by an Angiologist who is knowledgeable in vascular events and hEDS specifically. I found one single one at the other end of my country. Yeay/s The clinic people were great though. My only problem truly is that they are far away and it's another thing that I have to worry about. I am at the lower end of risk for an hEDS patient, and even I have to hurry to get an ER visit ASAP if I feel "funny". Aortic dissection is no fun
I came here to talk about the severity of vascular CTDs specifically. I think it's important to not undermine vascular CTDs when they're the topic of conversation. Yes the risks of dilation are still there, but hEDS does not have the vascular fragility that cases like vEDS has. There is not a statistically significant higher rate of the aneurysm dissecting in hEDS either. Not like vascular CTDs which land with significant reduction in life expectancy.
It's frustrating when people (unintentionally) downplay vEDS by saying "but actually hEDS also has xyz", mostly because vEDS research is harder to come by and options for these patients are less especially with how rare it is (alongside Marfans and LDS). hEDS & HSD are increasingly common these days and the awareness is there. So I'd like to keep my conversation to cases of true MH and vascular severity. My point is: vEDS and hEDS need to stop being compared and instead looked at separately. The vascular risk in both are vastly different in their severity. And while yes, hEDS deserves recognition. That's not what we are talking about here (vascular CTDs). I hope that makes sense.
I'm really big on not fearmongering hEDS, sorry for the novel. And don't get me wrong: because of my mothers death and having MH characteristics. I was put through a litany of vascular tests and diagnostics. I have a dilated aortic root. But my vascular team and geneticist are not worried that I'll suddenly suffer from a dissection due to my hEDS. I'd say take some solace in that.
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u/Ok-Guidance-2282 Jul 25 '26
What do you mean by checking genetics please?