I am a 40 yr old female. I wonder if you can direct me to the right place. I've been on a wild goose chase lately. Lots of symptoms, nausea bloating vomiting bleeding etc, but recently confirmed as a PiMZ alpha-1 carrier. With mild emphysema. I have autonomic dysfunction, (postural ortho tachy syndrome), small fiber neuropathy, 4 seizures (1 may have been a TIA), sleep disorder, etc. Went to ER for abdominal pains, (could be endometriosis related) and found 2x2 likely hemangioma on liver. 2nd contrast CT showed 2.2x2.2 stable hypodense lesion, right lobe, peripheral noduar enhancement. Prominent right lobe (may be normal 19.5cm). A few additional punctate hypodense lesions TSTC. Recent Lung CT showed same lesion as 2.6x2.3 round hypoattenuated mass (segment 7). (side question, do hemangiomas grow?)
I was tested for alpha1 due to alochol intolerance and lower lung lobe emphysema. But some recent blood work also showed some coagulation issues. (I also had colonoscopy, removed large tubular adenoma). Initially, I was tested for prothrombin fragment 1&2, and thrombin antithrombin complex, both very high. On second test with new labs added, those came back normal but new testing showed ATIII was low at 65%, and beta-2 glycoprotein I, IgM was high at 29. (low positive). All others normal, no LAC, proteinC,Factor V etc. My cardio said we should re-test. Rheum has no idea about tests. And I wonder who is the person to see next? Is there any point to try to find out what is going on or should I let it rest? I have never seen a hematologist, but with the carrier state of alpha1, I am not sure where to go. Plus I have many more symptoms, chronic low grade fever etc, extreme fatigue, weight gain, etc.
I was told by medical director at Alpha-1 foundation that coag issues can affect alpha testing. But no one else here in NYC has brought it up. Including pulm doctor. I am just tired and confused, and maybe I am just chasing my tail.
i am not sure if the the A1AT heterozygosity is playing a role in any or all of your symptoms. I do not think that the hematological abnormalities are significant. i think seeing a hematologist is a reasonable next step, at least for peace of mind. I hope you feel better.
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