Friends... I had my appointment Monday at NIH, the National Institute of Health. For those of you not in the US, this is our country's top hospital and research center. You have to be accepted into their program, because they only treat patients who meet the specific criteria for diseases they are studying. I was accepted because I have CVID (common variable immune deficiency) and PBC. This is going to be long, because it was really, really eye opening, because my doctor doesn't necessarily buy the PBC diagnosis.
Let me first say that I was BLOWN AWAY by the NIH hepatologist I saw. He had literally memorized my biopsy slides and gave my husband and I a very detailed analysis
He explained that for most people, a positive mitochondrial antibody test (AMA) pretty much clinches a PBC diagnosis and many docs don't even bother to biopsy the liver. If you have a positive AMA...they just start treating you. A positive AMA is 25 +. Mine was 182~the highest my original Gastroenterologist had ever seen (and he didn't hesitate to tell me that and scare me to death). My liver biopsy in January supposedly confirmed the PBC diagnosis based on the damage they found- according to two specialists at Reston Hospital AND my insurance company used a "Best Docs" program and had some of the top doctors in the field of PBC read my slides and agreed wholeheartedly without question that it's PBC stage 2.
Except, Dr. Koh says...not quite. First of all, he said that with CVID patients, a positive antibody test doesn't clinch it...because we have the antibodies of thousands of people in our blood stream if we are on immunoglobulin therapy. (Each weekly infusion is a synthesis of 1000's of plasma donations). So in essence, a positive AMA in an immune deficient patient is just a maybe. And yes - my biopsy does have some features that are indicative of PBC...but it ALSO has features of Nodular Regenerative Hyperplasia. NRH is a liver disease that is the result of many infections, and many courses of antibiotics. It is a direct complication of CVID. And more people with CVID have NRH than PBC. Guess where the Center for NRH study is (for the WORLD.)
You got it. NIH has the top NRH specialists working on their team.
None of the liver specialists who studied my biopsy slides until now had ever had a CVID patient, which is why they didn't even consider NRH as an option. And it's also really rare.
Now - the good (GREAT) news of yesterday is that they feel my liver damage is very early and hopefully we can prevent further damage. He was SO REASSURING about the staging. He said I'm "barely" a stage 2. Goosebumps of relief.
I have no idea whether NRH is "better" than PBC. Neither are fun....and both lead to really crappy things. But they do it differently. NRH causes portal hypertension which leads to strokes, horrible hemorrhage, and other stuff that made me stop googling it. It does NOT lead to Cirrhosis, whereas PBC does. leads to Cirrhosis. PBC is an autoimmune disease. NRH is a "complication" of infections and medication, not an autoimmune disease.
He reiterated over and over that we are just at the very beginning of a long relationship, that he would give me more info each time we meet, and that time will tell which liver diseases I actually have. He said that the biggest issue - by far - is my deficient immune system....out of control infections are my biggest enemy, as are certain medications. (I have chronic, debilitating urinary tract infections). He wants to keep me on my ursodiol for the liver disease and meet him back in a month. He said that each time they gather info on me it will become clearer where this is headed/what it is.
I have some combination of the following:
a) Primary Biliary Cirrhosis and Non Alcoholic Steato Hepatitis
b) Primary Biliary Cirrhosis, Non-Alcoholic Steato Hepatitis, AND Nodular Regnerative Hyperplasia
c) Nodular Regnerative Hyperplasia and Non Alcoholic Steato hepatitis.
He did feel that option "b" is a possibility - that I have both PBC and NRH. He will probably do a liver scope in the coming months to measure the pressure in my portal veins
I had a cardiac echo, CT scans of my chest/abdomen/pelvis, 20 vials of blood drawn, and a team of 6 doctors and nurse practitioners devoted just to me that day. The immunologists thinks that my pattern of infections is incredible,but par for the course for someone with an immune deficiency. They are going to use the next few months to map my genes until they find out where things went wrong. Because it's genetic...I had a terrible bout of Ecoli which triggered the CVID, but I always had the defective genes. Once they've mapped the genes, they can actually go in and turn the defective genes off.
Anyway, this is a lot of information to disperse, but I really believe that sharing our stories is so important, in the hopes that it might provide clues or ideas that could help others.
I am just so relieved to have people helping me who truly know what they are doing...my "regular" docs have admitted that they have no idea what to do with me.
Anyway, that's all for now. If I didn't say it before, they are keeping me on the urso.
Anyone on here have Nodular Regenerative Hyperplasia?
Be well, friends.