Have any of you been diagnosed with Loeys- Dietz Syndrome? My results came back in May 2022 TGFB3- syndrome 5.

[KellyInTexas]

I was tested my my rheumatologist due to Ehlers Danlos, multiple hernias beginning age 18 months, cervical instability, and my mother passed away from clotting complications ( anti phospholipid syndrome) and surgical complications post AAA ( aortic abdominal aneurysm) repair/ graph surgery.

[Blearyeyed]

Not been checked for this yet.

Have you been recommended any particular Self Care and treatment?

What does TGFB3 / 5 add to your symptoms

[KellyInTexas in reply to Blearyeyed]

hey bleary eyed!

Good to chat again.

It’s a genetic connective tissue disease. Looks a lot like Ehlers Danlos. But if you test for loeys dietz and have symptoms and complications of Loyes Dietz, it’s my understanding that it then takes the place of Ehlers Danlos.

I have a mutation of TGFB3- type 5

The really “big” thing it causes is arterial aneurysms that can dissect.

It can cause a whole host of problems but not every person gets every problem.

There are about 6 different genetic issues SMAD, a few others.

What’s really tragic are very young children can suffer pretty severe heart problems, cleft palates, club feet, scoliosis,

The only complications I had at a young age was abdominal hernias- surgery at 18 months old.

Also lots of medication allergies.

It’s autosomal dominant- so each child has a 50/50 chance of having it. ( roughly…)

My mom died of an AAA surgical complications, I have plenty of the symptoms and history, so I was tested and it was positive. I was scanned ( MRA head to top of thigh- I’m fine brain heart and abdomen all clear/ no aneurysms.)

Because of my mom- I’ll need to be tested about every year now.

For info: loeys diets foundation on Facebook