Hello, and welcome to the group. Most certainly glad to know that people are finding their way to answers.

Yes, most definitely you need to bring this up to your HCP...this is being missed and they are giving you diagnosis of alternate conditions that are resulting from the iron overload. Do you happen to know the ferritin?

The TSAT is very high, don't know your age or gender, unless I missed it, sorry, and you do not want a TSAT of more than 31 to 35%. An elevated TSAT also indicates iron loading and anything over 50% for women and 55% for men is a red flag and needs to be addressed by further testing. It is highly indicative of iron overload. The next test they need to do if not already is the ferritin, because if that is also raised then hemochromatosis is likely. They will need to run a DNA test to confirm it. There are also other genetics involved that they do not test for, but if the DNA shows you have one or two of the three genes they test for, then the diagnosis can be made of Hereditary Hemochromatosis (HHC). There are other acquired reasons for iron overload as well, but HHC is most common.

Your serum iron is quite high as well, at 17.3 (173) Optimal is between 13 and 15 for males. But most concerning is the TSAT%. Way too high. Take your concerns to your dr as soon as possible.

Also get them to run the full iron panel for ferritin, TIBC, TSAT and serum iron. Or add to the ones they just did the ones they did not do. Also get them to run the liver enzymes tests, AST, ALT and GGT.

Get copies of all test results. You did good by asking and looking into this. My husband's dr missed his for over 10 years and blatant elevated and flagged tests were missed or dr did not kow what he/she was looking at in all cases. We lost some precious time.

Having differential diagnosis of what you mentioned is the drs diagnosing the conditions that arise from and attributed to underlying cause of iron overload, and this happens a lot. They medicate and treat the symptoms but do not get to the root cause. Underlying disease like iron overload is at the source of so many of the diseases and conditions we do hear about. Diabetes, heart disease, cirrhosis, gallbladder disease, MS, Alzheimer's, vision problems, arthritis and the list is endless.

So happy that you are tuned in to your results and how you feel and have the mind to question. Medical community sadly lacking in the discovery dept. and all too often try to quick-fix.

Take care and keep us posted!

C

C,

Thanks so much for your response.

Well, I DID take it to my doctor yesterday. We talked about the auto-immune conditions I was diagnosed with ... and then I addressed the iron studies.

I took in copies of the reports (the rhuematologist had not forwarded them to her ... only his office note, and of course, these results were not mentioned). She looked at the result ... and for some reason the reference range for this particular laboratory goes up to 66% being normal (arrggh). Mine was 73% (I'm a female, age 52). She said, "That's not really too high." Oh boy.

I told her I had researched this on some very good websites and this was, in fact, WAY too high. She kinda took offense.

She asked if I had any relatives with hemochromatosis. Nope.

She said she would run an iron panel to see if anything was going on.

Well, her nurse called me today. Told me my iron level was normal (?!?). My ferratin was elevated, but the doctor said this was due to inflammation from my auto-immune conditions.

I was flabbergasted really. I am en route to visit family down south, so I was on a train and couldn't ask a lot of questions. I plan on getting the actual reports when I return from her office and I'll post her again.

I am part of the lupus and dermatomyositis groups here and I just posted that I think I need a new primary care physician. I haven't been real happy with her overall ... and this was the final straw for me.

Thanks so much again for taking the time to respond! It's so tough when you think you might have something that can explain some of what you've been feeling (fatigue, heaviness, abdominal bloating) and they only think you're 'looking for problems'.

By the way, with all the bloodwork my rheumy ran, it did show I have normal liver enzymes. At this point .....

Well, welcome to the world of HHC, if that indeed is the case for you. However, I can assure you that you will find drs very dismissive even trying to get to the bottom of things. Females are less likely to be diagnosed premenopausal as their levels are not that high, yet. But your TSAT is indicative of the iron loading. If it were only ferritin with the other things you have going on, then I would agree with her. However, your numbers are too high for her to dismiss. Your labs reference ranges are too high, never saw that before. Look up the Iron Disorders Insitute web site. You will get a list of tests and the ranges and the protocol for diagnosis and thresholds for each test.

What was your ferritin number? Optimal is less than or equal to 50, and TSAT optimal is 30 to 35%. When people are de-ironed and in maintenance, they keep these numbers at 50 and even less, 20 to 40 for many is ideal and TSAT 30ish. Lab ranges MEAN NOTHING!!!

Safe levels of iron are low, anything in excess of what our body needs is toxic, regardless of the mechanism by which we load, genetic or acquired.

Skin manifestations are vdery common with HHC, as are arthritic and inflammation, rheumatoid, oseto, auto-immune...iron destroys immunity and the body turns on itself. It is not uncommon for drs to make diagnosis of fibro and other derma diagnosis when in actual fact iron is at root cause. Gastro issues very common, also get them to check for Helicobacter Pylori, H pylori. Viruses, bacteria and infections are most prevalent in people with iron overload due to immunity and the fact that the body needs and thrives on free iron environment.

Here is a link with tables you can click on and print off or keep for reference on exactly what iron toxicity is responsible for...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763253/

Very good reading indeed.

I would also find another dr that knows about this or is willing to work with you on it until you know for sure. It is your health and it pisses me off when they get all high and mighty like we aren't allowed to question or have concerns for our health. If they can't find answers, then that only leaves us. Deal with it. They have no idea what it is like to be dismissed and jeered at and downright chased away due to their ignorance of this most common ailment.

Before I get too carried away,,, LOL also keep in mind that optimal liver enzymes are about 25 for each of the tests I mentioned above. And "normal" enzymes is also found in people with iron overload.

My husband's Hct and HGB were also high, as well as serum iron hovers over optimal at about 16 to 17. Hyper tensive, and high blood pressure, hypothyroid as well. You could get them to check your thyroid as this is another thing VERY common to HHC. Low functioning thyroid and pituitary glands which leads to many symptoms. Another one the drs label as normal when the numbers and symptoms speak otherwise.

Also, you could google hypogonadism, which both men and women suffer from, is a effect of HHC, and untreated leads to osteo and osteoporosis among other things.

Fatigue, brain fog, headaches, gastro intestinal, IBS, colon, abdominal swelling, vision issues, skin, (which can also be misdiagnosed and porphyria's are common to HHC).

Check out Iron Disorders Institute web site. Most reliable info and current as well...you'll find all you need to know including what tests and what the results mean and forms to print off for drs for testing protocols.

Take care, and let us know how things turn out. Run to another dr of this one is not in the groove. The statistics are 10 years and 5 drs to proper diagnosis...there is also a Facebook page called Genetic Hemochromatosis. Join, ask questions. Many here are also there and their experience is far and above what you will find from your dr in so many cases, unfortunately...

C

Hi pandamamma!

I returned from my vacation ... and immediately went the next day to obtain the results of the 'iron studies' my doc ordered.

My ferratin level was 229 (elevated). My iron level was 128 ng/mL (normal, according to the reference ranges). She did NOT order a TSAT (idiot).

I had shown her the last two tests I had done, one in 2010 and one last month. These showed high TSATs (66% and then 73%), and an elevated iron level at the last testing (173).

As I said, the nurse called me with these lastest results while I was traveling. "Your iron level is normal, your ferratin is slightly elevated, but this is due to inflammation. Good-bye.".

I now don't know what to do. I can tell this doc thinks I'm 'looking' for problems.

Jesum crow, after YEARS of suffering, I was FINALLY diagnosed (through positive lab results) with lupus and dermatomyositis. I realize this is probably the primary contributor to my sense of being 'unwell' (fatigue, rashes, joint stiffness and pain), but as I told her, IF there is something else going on that can be remedied and make me feel a bit healthier, let's go after it.

I was totally and completely discounted and dismissed ... and I have NO clue what to do now ... or if I even should be pursuing this. If I step out and call another doctor (a GI or hematologist), well, that could be uncomfortable.

I've been thinking about a new primary care doctor for a while ... maybe now is the time to switch?? As I stated earlier, for some reason the reference range for TSAT with the lab that ran the tests was 16-66%, so she thinks my TSAT is basically normal. I asked her to visit the numerous, VERY credible websites that dispute that number, but she looked at me like I was crazy.

What's your take on all of this?

Hello again...I am feeling your frustration, and you have good cause for concern. TSAT is INDEED the test that will determine further testing and investigation into iron loading. Ferritin CAN be elevated due to inflammation etc. and many other reasons underlying...however, TSAT over 50 or 55% is highly indicative of iron loading. Even though the ferritin is not THAT high, in women this can be quite normal. Have you started menopause? Ferritin can stay low in the early stages, and TSAT will be the number to rise.

If you are not getting the correct response from your dr. FIND A NEW ONE! The average is 10 years and 3 drs to correct diagnosis. This was also true in our case with my husband, and being a female, 42, with a lower IN RANGE ferritin but elevated everything else, I was not taken seriously. Seems it was the illness of the week, that I wanted to have because my husband had it...true story, that's what he told me when I asked about 3 out of 4 iron panel tests coming back over range.

Find another dr. or ask for a referral to a specialist like a gastroenterologist or hematologist. Who diagnosed your other conditions, and how?

What is your family history? Family illness? Heritage?

The only way I found out for sure was to get the DNA done myself and then I had some ammunition to go forward. My levels are not as high as many, but I am loading and I am younger and premenopausal, so this will only get worse as I age. I am glad I know now, and can prevent the damage my husband has. He was diagnosed at 57. It took us over 10 years and 3 or more drs. and it was OBVIOUS now we look back and have his records.

There are online lab kits you can order depending where you are. There is 23andme, or in Canada, there is Canadian Hemochromatosis Society in Richmond, BC where I ordered mine. Top notch people there, too, if you want to contact someone when you get some results.

If I think of anything else, I am running out right now, but I will write again.

Take care, C