TGF-beta mutation possible connection to FA and other genetic disorders?

[CMdeux]

The recent news release about this research article from JHU got me wondering-- I know that anecdotally a lot of folks here have connective tissue disorders or related things in their families.  It has always seemed like a higher number than average... but now I really wonder.

More about TGF-beta disorders:
http://www.princehenrys.org/tgf-b-signalling-pathway-disorders

http://www.ncbi.nlm.nih.gov/pubmed/22918531

[maeve]

I have joint hypermobility syndrome, eczema, antibiotic and environmental allergies, and asthma.  DD has asthma, LTFA, eczema, and environmental allergies.

[CMdeux]

Doh-- had to edit the first poll option-- not "No" connective tissue disorder...      Because, see, yeah... that wouldn't make any sense.  Even for me.

[GingerPye]

So, I marked allergy --- but we don't have any kind of connective tissue disorder.

[twinturbo]

No known links in our combined families' histories. But a long history of food allergies and atopy on both sides both predating emigration from ancestral countries, or family still abroad having similar issues but not anaphylaxis. Say that fast ten times.

[becca]

Does Lupus, RA, count as connective tissue disorder, or aortic aneurysm in 3 brothers?  I believe that is an issue with connective tissue and inflammation.  If so, Then we have lots of those sorts of things on my father's side.  "connective tissue disorder" is a broad term.

Atopy on dh's side, his mother and a sibling AFAIK. 

[CMdeux]

Well, lupus is AI but probably a different mechanism... and aortic dissection is certainly associated with Marfan, though I don't know specifically about aneurism.

I'm guessing that means "other" since it's not specifically linked (that you know of) to the TGF-beta pathway.

That's what I voted for us, too-- there's plenty of evidence for connective tissue disorder in my side of the family, but it's something odd and I can't recall what specific gene product is involved.

[maeve]

Aortic aneurysm can be caused by a connective tissue disorder (the vascular version of Ehlers-Danlos).  Both lupus and RA are autoimmune diseases, as are celiac and psoriasis.  There's also a history of aortic aneursym in my family along with RA, celiac and psoriasis.

[Gray]

A few years ago, a rheumatologist told me I have connective tissue disease that he felt was probably in a pre-lupus stage although there was not enough criteria met to say for sure.  I don't know how accurate even the CTD diagnosis is.  ANA's and other symptoms have been pretty good lately so it's just something we are keeping an eye on.

[becca]

Yeah, I have had slightly elevated ANA's and the doc then shrugged it off even though I was complaining of lots of aches and pains and have 2 auto-immune issues as is, maybe 3, as diabetes gets lumped into it at times too. 

Dd is getting achy knees.  They looked inflamed at times.  I need to have her checked out and am so bummed.  She is pretty athletic, but seems like she could be prone to CTD issues or autoimmune aches and pains.  Just based on her build and similarity to women in my family with some of the various diseases.  She at least has some ligamentous laxity. 

[becca]

So, my dad, nor either of his 2 brothers with aortic aneurysms had a dx of Marfans, but I would not be at all surprised if there were a mild dx missed.  all were tall, thin, had some features that could be consistent with it, eye problems, long digits, large feet, etc...  My dad's dissected and it was an emergency and he lived.  The first brother with it died from it, suddenly many years before my dad's issue.  So, then, his older brother, got his diagnosed after asking to be screened after my dad's situation.  Had his fixed in his late 80's and lived past 90.  Even if my dad had died, he would have lived past a normal life expectancy, for his generation, but the first brother was only in his 60s. 

[PurpleCat]

Nobody, no one, completely out of left field....and only 1 of 3 kids.

[LinksEtc]

Genetic glitch at the root of food allergies?
http://foodallergysleuth.blogspot.com/2013/07/genetic-glitch-at-root-of-food-allergies.html

[twinturbo]

Genetic glitch at the root of food allergies?
http://foodallergysleuth.blogspot.com/2013/07/genetic-glitch-at-root-of-food-allergies.html

This needs to be read. Thanks links, I didn't know she had an entry about it.

Unless I'm way off she's pointing out that the allergic population is not part of the 'genetic glitch' club but rather share some similarities in how the immune system malfunctions with the population that does have the genetic glitch.

[LinksEtc]

Kind of related ...

JACI

"High Prevalence of Eosinophilic Esophagitis in Inherited Connective Tissue Disorders"
http://m.youtube.com/watch?feature=c4-feed-u&v=sXAVFDgrDjg