Hemochromatosis & AAT

Hum, one thing jumped out at me, Monoclonal Protein. I’m diagnosed with MGUS, a blood disorder that can cause certain cancer or not progress at all and you live your life without cancer. Unfortunately, my MGUS is progressing towards Multiple Myeloma or Non Hodgkin’s Lymphoma. So my blood is checked often by my Oncologist/ Hematologist. There is one particular protein the body produces that keeps track of how fast or slow the mutated cells are growing. It’s called your M-Spike and the protein is the Monoclonal Protein. I’m pretty sure it’s the same protein that my Oncologist keeps tract of. Now, after telling you that bit of information, I don’t want you to jump to conclusions. It simply means your body is producing M-protein for a reason. Just remember, we have two different kinds of blood issues. Your doctor could be watching your M-Spike to see if your blood disorder is progressing and getting worse or better. Blood test’s results can be complicated and hard to understand but your doctor is keeping track of it for you. Good luck. Becky1024

I see a oncologist/ hematologist and have also been diagnosed as follows:
Monoclonal paraproteinemia, IgG-kappa
Hereditary hemochromatosis associated with HIS63Asp gene mutation
Vitamin B12 deficiency
Gastric achlorhydria
I’ve had extensive blood work done and my doctor acts like there is no concern. I recently received the results posted earlier and I am scheduled to go back to my physician soon but usually I leave with out really understanding the results. I’ve had other blood work done recently and my Bun level is high along with creatinine, albumin being high as well with kidney function declining to 40 and Protein/Creatinine Ratio being 228 mg/g. It also showed phosphorus, blood, bacteria, protein, mucous and Hyaline Casts in urine. I don’t know if all the test results has to do with the hemochromatosis or AAT deficiency or the blood disorder. I get multiple testing but I don’t seem to fully understand the results because they are with multiple doctors who do not want to interpret another doctors test results. Does anyone have any insight? becky@1024 thank you for responding, have you had any test results mentioned? I’m praying your blood disorder stops progressing I know it must be scary! I’m just wondering if mine is progressing as well!?

@lclark918, Alpha-1-antitrypsin (AAT) is a protein produced in the liver that protects the body's tissues from being damaged by infection-fighting agents released by its immune system. In alpha-1 antitrypsin deficiency, the body’s normal production of AAT is reduced.

Your report states "AAT variants are genetically determined and can be associated with lung and liver injury. ... AT phenotype analysis is suggested." This means that the lab suggests that you get tested further for alpha-1-antitrypsin because it can lead to lung issues. If you have the AAT variant, it may be inherited and passed on to children, if you have any.

Definitely discuss this with your doctor at your next appointmen.

@colleenyoung thank you for responding, I will definitely discuss this result along with other blood test to see if my declining kidney function, monoclonal protein and the hemochromatosis some how correlate. Thank you for some insight as I’m having to wait to see my doctor, and the wait can always seem like forever.

@colleenyoung I actually was able to see my doctor early due to a cancellation, after my visit I was a little confused as I asked about my test results and he stated everything was good. I questioned the AAT test results and he stated that the lab just types in things and they don’t actually know, he stated them suggesting I need to be referred for further testing wasn’t necessary. So you can imagine my confusion if I pay over two thousand dollars for testing and it really doesn’t matter what the results are I’m wondering why so many blood test if results are disregarded. I’m going to post the actual results below and this is only one test that was preformed
PROTEIN ELECTROPHORESIS PANEL - Details
Component Results
AAT
Your Value
68 mg/dL
Standard Range
82 - 200 mg/dL
Flag
L

Hapt
Your Value
177 mg/dL
Standard Range
22 - 200 mg/dL

IgA, Total
Your Value
157 mg/dL
Standard Range
69 - 309 mg/dL

IgG
Your Value
1,015 mg/dL
Standard Range
701 - 1,469 mg/dL

IgM
Your Value
45 mg/dL
Standard Range
43 - 271 mg/dL

CRP
Your Value
0.20 mg/dL
Standard Range
0.00 - 0.80 mg/dL

TP
Your Value
7.7 g/dL
Standard Range
6.2 - 8.2 g/dL

Alb
Your Value
5.1 g/dL
Standard Range
3.4 - 4.7 g/dL
Flag
H

Elect Interp
Your Value
Indication: Monoclonal protein

Altered migration and/or decreased level of alpha-1 antitrypsin (AAT):
The AAT band exhibits altered migration and/or quantitative AAT levels are decreased. This is suggestive of a variant form of AAT. AAT variants are genetically determined and can be associated with lung and liver injury. In view of the possible clinical consequences and the implications for family members, AAT phenotype analysis is suggested.

The result I was most concerned with was
AAT
Your Value
68 mg/dL
Standard Range
82 - 200 mg/dL
Flag
L
My doctor stated the results were not concerning and should be disregarded. I’m no doctor but it does show it’s low, do you know anyone that has a similar resulted test and is this not a concern for me or my children? He stated that is why I see him so he can interpret the results and this is of no concern. Just wondering if anyone has any thoughts on this. I really want to trust his expert interpretation is correct but just concerned for my children and their children’s health. Any advice? Have you seen similar test results? Just a little concerned.