Could a diagnosis for all my weird symptoms be in the offing?
Last week I met with an Ear, Nose, and Throat doctor. He looked over my file without much concern, and then he put a lighted scope of some kind into my nose. He very quickly took it out, put it down, put his hands on his lap, and said, "Not good, Mary. Not good, Mary."
I didn't panic. I've been concerned for some time that something is going on in my lungs. As for my nose--well, I've always had trouble with it. Recent problems have been a bit more dramatic, but I've probably had sinus problems for years without even knowing that's what they were. Before I went to the ENT, I'd told my primary care doc how my cough, difficulty breathing, and sinus problems just don't seem to go away. I've had three courses of heavy-duty antibiotics this winter--two Z-paks and one other pack of some kind, and yet I still have a sore throat, sinus crusting, and some difficulty breathing.
When I discussed these problems with my primary care doctor, she took a look inside my nose and said, "Your nose is a mess." She wanted me to have a CT scan of the sinuses and get to an ENT as soon as possible. The CT scan showed thickening of the sinuses and a polyp or cyst in the sphenoid sinus. Not necessarily reason for severe alarm, but not the best news in the world. Polyps must be biopsied and/or removed, and getting to the sphenoid sinus is difficult.
Sinus abnormalities showed up on an MRI about a year and a half ago, and I then went to an ENT doc in our local town. He didn't do much--a quick exam, after which he told me I had a nasal perforation and asked if I used cocaine. No, not since the 80's, I said--and then only a few times. (Didn't everyone do cocaine in the 80's?) He mentioned Wegener's but didn't order any further testing, so I asked my primary doc about it afterwards and she ordered a blood test, which was negative. Wegener's is a disease that occurs because of vascular inflammation. Due to abnormal blood cells, the inflammation leads to necrosis. That means dead tissue. It is associated with polycythemia, which I've had for a year and half now with no cause determined after extensive testing.
However, as I now know, any one blood test cannot determine whether or not one has Wegener's. It can be a diagnosis of elimination, unless the abnormal blood cells can be detected in a biopsy--but that's not a sure thing. I'm now scheduled for a biopsy in three weeks--after a regimen of antibiotics and medicated sinus mist and regular sinus mist sprays at least five times a day. I guess the doc wants my nose in the best possible shape before taking the biopsy--but nasal biopsies are only about 50 percent reliable for Wegener's.
Interestingly, in addition to the nose, throat, and lungs, the most frequently attacked organ in Wegener's is the kidneys. My kidney glomerular filtration rate (GFR)--an indicator of kidney function--has been declining for the past year, from 64 to 57. For a woman my age, "normal" is 93. Anything lower than 60 is recognized as a sign of chronic kidney disease. My primary care doc said she wasn't worried about it. After thirteen years of uncontrolled hypertension, these numbers were to be expected, she told me.
However, because of those numbers, the nose and lung symptoms, and other abnormal blood tests, Wegener's is looking more and more likely. I have polycythemia, an elevation of hemoglobin and hematocrit, but I tested negative for polycythemia vera based on the JAK-2 gene mutation--so the polycythemia must be caused by something else. Polycythemia is associated with Wegener's, as are other abnormal lab readings I've had: low neutrophils and high EOS cells.
Thus, I will be surprised if a diagnosis of Wegener's isn't forthcoming. Yet there are other diseases that have similar symptoms, including some cancers. One of these is midline lethal granuloma--a disease that starts with necrotizing the nose and then spreads to other parts of the face, eventually leaving the patient with a hole in the middle of his or her face. God, spare me from that. I'll take Wegener's over that, by all means.
Nevertheless, it isn't an easy diagnosis. I'll have more on the treatment and prognosis for Wegener's in a future episode.
UPDATE: I now have an appointment at Johns Hopkins Department of Rheumatology in July--I'll let you know what they find!
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