Now I don’t know if he wants to test for it or anything but seeing how the tests can be inconclusive is there any sense in testing for it?
Hi Deb, First, the vascular problems with other types of EDS can be the same as the vascular type — varicose veins, spider veins, easy bruising, fairly transparent skin,etc. But although our aortic roots tend to enlarge, they don’t enlarge as much as in some of the other types, and our organs and vessels are not as weak as those in the vascular type. Surgeons describe the vascular type of vessels as wet tissue paper. Same description of our bowels, uterous, etc. So we may have weaker vessels, we may have aneurisms, but we tend not to have vessels that seem to just fall apart as easily. Also, the vascular type usually comes with a certain appearance – thin hair, thin lips, little subcutaneous fat on the face, VERY transparent skin (especially on the chest). It’s not always obvious, but a skilled geneticist can usually tell by looking. Oh, and the tests for mast cell? This has thrown the mast cell world in a tizzy, my friend. Most doctors will evaluate your blood work and urine — they want to rule out systemic mastocytosis vs. MCAD. At that point, it is up to them as to whether they’ll want a bone marrow biopsy. But you’re right. After ruling out other diseases, most “in the know” mast cell doctors will start treatment based on your symptoms alone. But I think it is smart to have a mast cell specialist on your team, I really do… 🙂 Diana