Recognize when to consider the diagnosis of hemochromatosis and how to recognize common mimics of an elevated ferritin level. We’re joined by Dr. Elliot Tapper, @ebtapper on twitter (University of Michigan)
I've been listening since I was a teenager in college and have recently returned to the show because I'm in medical school. I have shown your podcast to my dad when he was considering statin use and he has since referred it to his coworkers. Thank you all for making me a better future physician.
Diagnosed 2/2022 282y homozygous. Ferritin: 3800. MRI with elastography: severe iron deposition. I'll have my 58th phlebotomy on Wednesday. Ferritin currently 280. I was 54 at diagnosis. I work 7 days a week. I had no symptoms at first, but now suffer significant joint issues. Daily. My hepatologist wants me to have an MRI on liver every six months for life. Such fun.
It's interesting to me how many doctors are not in tune with diagnosing hemochromatosis. I knew I had it before my doctors did. My doctor tested my ferritin and iron, for what reason I have no clue, and the results were high, but she never told me. It wasn't until I made an account and could look at my own bloodwork that I saw the levels were high. I did a simple google search and found hemochromatosis. It took another 5 years for my doctors to get the ball rolling. I actually had one of my doctors seem highly annoyed that I was right. I'm fortunate to have caught this at a young age and don't need as many phlebotomys to lower my levels.
Thank you Curbsiders once again for this perfect podcast and to Dr Tapper for sharing his clinical expertise to enlighten us. I am working on an N=1 case paper, where we were able to regress a 66-year-old female NASH patient's Ferritin from 865 to 45, the Fibroscan stiffness score from 10.4 to 5.8, and Fibroscan CAP value from 305 to 280. Still working on the CAP. I would be happy to let you know more about the study proceedings.
I’m fit, i always was very healthy. I don’t drink alcohol at all and workout regularly and I developed severe symptoms of iron overload with bronze skin colour and ferritin increasing from 164 to 440 in 5 months. I have just one copy of the faulty gene of hemochromatosis. My liver enzymes went up as well.
It's not a deficiency or mutation in hepcidin it's a mutation of the HFE gene that causes the liver not to express the enzymes or proteins to control hepcidin levels but hepcidin itself works fine and can still work via IL6 and the Hamp/Jak pathway from inflammation
How do you know if high ferritin is from inflammation or another cause? I have heredity hemochromotosis and I am so confused on how I can decrease my ferritin levels. I have had this for 61 years undiagnosed. I get phlebotomy but it hurts is invasive and time consuming. I am going to see a liver specialist to make sure my liver is healthy.
How i have hireditry hemochromatosis when there is no uropean background in my family history i believe mine is from balemia ibs and alcohol disorder i stopped drinking as soon as my doctor told me but he said by the iron blood test my liver was fine he didn't do any other tests i have symptoms because i misteriosly lost weight im was 53 kgs now im 49kgs im battling to keep my weight up its quite scary because I've never been this low in weight since I was young
What online test would you recommend to test for hereditary hemochromatosis I’m 37 years old exercise, at least four times a week with a body fat of less than 15%. Haven’t had a sip of alcohol in three years. I recently donated blood 2 weeks ago just seeing if it would help me i watched a video that said it could help lower my SHBG and increase my free testosterone. After donating i felt amazing for about a week and a half my bench press went up over 40lbs during that time. Starting feeling bad again after the 2 week mark so had my iron saturation check and ferritin check. it was 47% and ferritin 495 2 weeks after donating not sure what my next step should be.
You could do phlebotomy. Depends where you live. In Canada ferritin has to be 1000 or more to have phlebotomy prescribed as a treatment. In some US ferritin over 300 is an indication for phlebotomy. I’m not sure if this is true for everyone or just for people with hereditary hemochromatosis. I have hemochromatosis and my ferritin went up in 6 months from 164 to 440. I have severe symptoms, but my doctor thinks it’s in my head. I donated blood and my symptoms improved. But after a week they are coming back. So I just do phlebotomy to myself. Im a healthcare professional and I know how to do it
Two copies of a gene…it can be heterozygous or homozygous and there are a number of genes implicated. If you have one gene and take in iron as a result of diet and lifestyle you will need treatment. I do not see any point in waiting to find out about this problem, if you don’t know you have a problem how do you deal with it? Since doctors always tell you to lose weight and eat right AND HAVE NO EDUCATION IN NUTRITION, they have nothing of substance on offer. Because if you tested you could advise your patients to adjust their diet to not overload iron. You really want to give your patient with every opportunity to not develop cirrhosis, cardiac issues, etc. more than the liver is impacted by iron deposits.
In Canada doctors wait until you have ferritin 1000. Then they can prescribe phlebotomy. At this level of ferritin you can have damage to your organs, including cirrhosis
I've been listening since I was a teenager in college and have recently returned to the show because I'm in medical school. I have shown your podcast to my dad when he was considering statin use and he has since referred it to his coworkers. Thank you all for making me a better future physician.
Awesome to hear! Thank you!!
Diagnosed 2/2022 282y homozygous. Ferritin: 3800. MRI with elastography: severe iron deposition. I'll have my 58th phlebotomy on Wednesday. Ferritin currently 280. I was 54 at diagnosis. I work 7 days a week. I had no symptoms at first, but now suffer significant joint issues. Daily. My hepatologist wants me to have an MRI on liver every six months for life. Such fun.
It's interesting to me how many doctors are not in tune with diagnosing hemochromatosis. I knew I had it before my doctors did. My doctor tested my ferritin and iron, for what reason I have no clue, and the results were high, but she never told me. It wasn't until I made an account and could look at my own bloodwork that I saw the levels were high. I did a simple google search and found hemochromatosis. It took another 5 years for my doctors to get the ball rolling. I actually had one of my doctors seem highly annoyed that I was right. I'm fortunate to have caught this at a young age and don't need as many phlebotomys to lower my levels.
Thank you Curbsiders once again for this perfect podcast and to Dr Tapper for sharing his clinical expertise to enlighten us. I am working on an N=1 case paper, where we were able to regress a 66-year-old female NASH patient's Ferritin from 865 to 45, the Fibroscan stiffness score from 10.4 to 5.8, and Fibroscan CAP value from 305 to 280. Still working on the CAP. I would be happy to let you know more about the study proceedings.
Thank you!! Please do! Send to us at askcurbsiders@gmail.com for the fastest reply!
I’m fit, i always was very healthy. I don’t drink alcohol at all and workout regularly and I developed severe symptoms of iron overload with bronze skin colour and ferritin increasing from 164 to 440 in 5 months. I have just one copy of the faulty gene of hemochromatosis. My liver enzymes went up as well.
It's not a deficiency or mutation in hepcidin it's a mutation of the HFE gene that causes the liver not to express the enzymes or proteins to control hepcidin levels but hepcidin itself works fine and can still work via IL6 and the Hamp/Jak pathway from inflammation
How do you know if high ferritin is from inflammation or another cause? I have heredity hemochromotosis and I am so confused on how I can decrease my ferritin levels. I have had this for 61 years undiagnosed. I get phlebotomy but it hurts is invasive and time consuming. I am going to see a liver specialist to make sure my liver is healthy.
at min 43:00, phlebotomy can discard other stuff that is not that great from our blood, like other toxic minerals or plastics.
SWEET! i didnt know that and i have to do phlebotomy often
Thank you
You're welcome
How i have hireditry hemochromatosis when there is no uropean background in my family history i believe mine is from balemia ibs and alcohol disorder i stopped drinking as soon as my doctor told me but he said by the iron blood test my liver was fine he didn't do any other tests i have symptoms because i misteriosly lost weight im was 53 kgs now im 49kgs im battling to keep my weight up its quite scary because I've never been this low in weight since I was young
What online test would you recommend to test for hereditary hemochromatosis I’m 37 years old exercise, at least four times a week with a body fat of less than 15%. Haven’t had a sip of alcohol in three years. I recently donated blood 2 weeks ago just seeing if it would help me i watched a video that said it could help lower my SHBG and increase my free testosterone. After donating i felt amazing for about a week and a half my bench press went up over 40lbs during that time. Starting feeling bad again after the 2 week mark so had my iron saturation check and ferritin check. it was 47% and ferritin 495 2 weeks after donating not sure what my next step should be.
You could do phlebotomy. Depends where you live. In Canada ferritin has to be 1000 or more to have phlebotomy prescribed as a treatment. In some US ferritin over 300 is an indication for phlebotomy. I’m not sure if this is true for everyone or just for people with hereditary hemochromatosis. I have hemochromatosis and my ferritin went up in 6 months from 164 to 440. I have severe symptoms, but my doctor thinks it’s in my head. I donated blood and my symptoms improved. But after a week they are coming back. So I just do phlebotomy to myself. Im a healthcare professional and I know how to do it
What would cause you to test for ferritin nun the first place? Is it just routine?
You might test ferritin if someone is anemic. Or if someone has a suspicion of liver disease.
It's not in routine blood panels.
Two copies of a gene…it can be heterozygous or homozygous and there are a number of genes implicated. If you have one gene and take in iron as a result of diet and lifestyle you will need treatment. I do not see any point in waiting to find out about this problem, if you don’t know you have a problem how do you deal with it? Since doctors always tell you to lose weight and eat right AND HAVE NO EDUCATION IN NUTRITION, they have nothing of substance on offer. Because if you tested you could advise your patients to adjust their diet to not overload iron. You really want to give your patient with every opportunity to not develop cirrhosis, cardiac issues, etc. more than the liver is impacted by iron deposits.
In Canada doctors wait until you have ferritin 1000. Then they can prescribe phlebotomy. At this level of ferritin you can have damage to your organs, including cirrhosis