Living with hemochromatosis

Hey everyone, does anyone know anything about this condition or—God forbid—is anyone actually dealing with it right now? There’s barely any info on it online...
Please help!!!

Hemochromatosis is essentially an accumulation disorder, where specific pigments build up within the organ tissue—primarily the liver, though the impact on the heart shouldn't be overlooked either. Over time, this typically leads to organ dysfunction, and unfortunately, there aren't many treatment options available...

Basically, hemochromatosis is all about how your body messes up its iron metabolism.
Sam Hall15 mentioned that certain pigments 😉—like we talked about earlier regarding iron buildup in organs like the liver, pancreas, or heart.
So, did you actually get a formal diagnosis?? And how'd they figure it out?
Sam Hall15, don't go scaring everyone! 😛
As long as you're doing phlebotomy and avoiding major complications, things can turn out totally fine.
Just stay on top of it with regular checkups with a specialist.

You’re right, I misspoke regarding the treatment options. What I meant to convey was that there isn't a way to treat the underlying cause... since this is essentially an accumulation of hemosiderin pigment. 😁
Hey, quick question for you, Charles Edwards8: are you actually in the medical field, or just incredibly well-informed for a layperson? If it's the former, you should probably just enroll in med school and knock out the degree in three years. 😁

Look, I’ve got zero medical training or anything like that.😉 I just pick up doctor books at home 😉 or stuff about healthy living and whatever.😛 But there's no way I'm starting med school at my age.
I wouldn't call myself a pro, but after being into this for 12 years—between reading up on things and chatting with some doctor buddies I've made along the way—I pretty much "get" it. Let's just say medicine is my hobby.😉.
Back when I was a kid, maybe 35 years ago, I actually wanted to be a doctor. But I totally missed the boat on college, ended up drifting through psychology, and even did some work at a hospital as a technician.😉

Honestly, even if I were young enough to choose right now, I still wouldn't go for it. The grind to finally become a specialist is absolutely brutal—you know how it is.

BTW, I can tell you're hitting the books right now.😉

"I am learning" 😁

Morning everyone, and thanks for the replies. Not gonna lie, you haven't helped much because I already know everything you mentioned. They've been suspecting hemochromatosis for a year now—constant blood draws, tests, biopsies, the whole nine yards—but they still haven't nailed down a diagnosis. Over this past year, my iron dropped from 47 (it was even higher before) down to 25. My last result was 35, and I honestly have no clue why it's fluctuating like that. It’s only been a month and a half since the 25 reading. Before they caught the high iron, I was actually getting iron infusions because I was running low. 😕 My liver enzymes were also high, but they've dropped, and my ferritin went down too. Honestly, I feel great. My heart ultrasound just showed a minor congenital defect, nothing related to iron damage, and my pituitary, hypothalamus, and liver MRIs all came back fine. A liver biopsy sounds terrifying, but the results showed iron levels in the tissue were within the normal range, though on the higher end.
At the end of the day, I feel awesome. No pain, no issues, and I'm not taking any meds or vitamins, nor have I had any treatment in the last year. 🙏 🙏 🙏 🙏 🙏 🙏
Oh, forgot to mention impaired glucose tolerance—that's the only thing they've actually diagnosed. Just praying to God it goes back to normal.

Realistically, I'm wondering if anyone knows what the actual symptoms of hemochromatosis should be. 😕 😕 😕

So, one of the symptoms just got labeled as "impaired glucose tolerance."
It’s pretty rare to see this in younger folks. Usually, it starts popping up once you hit 40.
Since you've been fully worked up and everything, if you're feeling alright, I'd say just let it be.👍
I mean, you could probably list out all the symptoms right now, but honestly, I don't think there's much point unless you're just looking to geek out on the info.😉 Plus, they aren't even that specific. The main thing is just making sure you feel okay.🙂

Charles Edwards8 said:So, one of the symptoms just got labeled as "impaired glucose tolerance."
It’s pretty rare to see this in younger folks. Usually, it starts popping up once you hit 40.
Since you've been fully worked up and everything, if you're feeling alright, I'd say just let it be.👍
I mean, you could probably list out all the symptoms right now, but honestly, I don't think there's much point unless you're just looking to geek out on the info.😉 Plus, they aren't even that specific. The main thing is just making sure you feel okay.🙂

Look, I'm 30! I have no clue where this came from, unless they overloaded me with iron—which, honestly, I think they did. It's usually hereditary, but nobody in my family deals with this (both my mom and dad were tested). I'm thinking it's definitely linked to those iron infusions. My ferritin was insanely high, but the doctor didn't do anything about it.👎 That was four years ago.
Please, tell me the symptoms!
thanks.

Hey there!

I’ve been living with hemochromatosis, so if anyone wants to chat about it or has questions, feel free to check out my blog at vampireillness.blogspot.com

Cheers!

Resurrecting this thread just a bit😁 My last three iron measurements have been hovering between 40 and 46. My genetic testing showed I'm "just" a carrier—a heterozygote for the milder mutation that doesn't necessarily progress into hemochromatosis—but seeing these high iron levels has me questioning everything. Honestly, even my doctors haven't given me a straight answer😁. My ferritin is within the normal range, but my UIBC is low. If these iron numbers stay this high, I suspect I'll be looking at phlebotomy soon. Is anyone else out there dealing with this same kind of uncertainty?🤷

I just have one question: what are the actual symptoms of this condition? I've been struggling quite a bit for about a year now. I get this dull ache in my liver area, my iron levels are high, and both my Hgb and red blood cell counts are sitting right at the upper limit. I tire out so easily, I feel weak all the time, my skin is incredibly dry, my heart races, and my PMS is absolutely brutal! Could any of this be linked to hemochromatosis? If so, which tests should I look into getting done?

Kimberly Hughes23 said:I just have one question: what are the actual symptoms of this condition? I've been struggling quite a bit for about a year now. I get this dull ache in my liver area, my iron levels are high, and both my Hgb and red blood cell counts are sitting right at the upper limit. I tire out so easily, I feel weak all the time, my skin is incredibly dry, my heart races, and my PMS is absolutely brutal! Could any of this be linked to hemochromatosis? If so, which tests should I look into getting done?

If your liver is hurting, you probably already had your liver enzymes checked, and maybe an ultrasound if necessary.
As for hemochromatosis and its symptoms, I could go on for pages:

Hemochromatosis is an iron metabolism disorder where increased iron absorption causes excess buildup in parenchymal organs, primarily the liver, pancreas, heart, and pituitary gland. A diagnosis can be suggested by the presence of hepatomegaly, skin pigmentation, diabetes, heart disease, arthritis, and hypogonadism. Symptoms typically manifest between the ages of 40 and 60, starting with fatigue, exhaustion, weight loss, changes in skin color, abdominal pain, loss of libido, and diabetic symptoms. Biochemical markers indicating iron accumulation in the liver mainly include elevated serum ferritin levels and increased transferrin saturation. Confirming a diagnosis of hemochromatosis, alongside the appropriate clinical picture and biochemical parameters, requires molecular genetic analysis to identify mutations in the HFE gene.

So, if your ferritin and iron are consistently high, you need to get genetic testing for hemochromatosis (I had mine done at Mayo Clinic). The symptoms aren't usually anything special because the excess iron mostly just destroys the liver; the real panic sets in once you hit cirrhosis. 😁Since I'm only 24, I'd take those notes about symptoms appearing between 40 and 60 with a grain of salt.😁

So, I just got my iron levels back and they're sitting at 50, when the upper limit is supposed to be 35.
My UIBC came in at 10, but the minimum should be 25.

I’ve been anemic my entire life—seriously, ever since I can remember—and when I last checked my iron a year ago, it was down at 17! I’ve never even needed a blood transfusion. So, how on earth does this happen? How can it jump like that? My liver tests are all totally normal, too.

So, I was recently diagnosed with hemochromatosis—I'm a C282Y homozygote. My primary care physician handed me a referral for a gastroenterologist, so now I'm just sitting around waiting for that appointment to happen.
My ferritin came back at 250 during my last blood work (the standard range is usually 13-150).
I was wondering if anyone else here is dealing with a diagnosis of hemochromatosis, and specifically, which specialists you all see... is it typically a hematologist or a gastroenterologist?
Best,

Gary Ross6 said:So, I was recently diagnosed with hemochromatosis—I'm a C282Y homozygote. My primary care physician handed me a referral for a gastroenterologist, so now I'm just sitting around waiting for that appointment to happen.
My ferritin came back at 250 during my last blood work (the standard range is usually 13-150).
I was wondering if anyone else here is dealing with a diagnosis of hemochromatosis, and specifically, which specialists you all see... is it typically a hematologist or a gastroenterologist?
Best,

Honestly, just go with whoever you feel most comfortable with, though they usually do the blood draws over at the daily hematological clinic.
As for a full consultation, I’d suggest heading to Mayo Clinic.

Thanks for getting back to me.

I have a few more questions on my mind.
Do I need to get a full blood panel done before every single phlebotomy session, or is it enough to just check specific markers like hemoglobin and ferritin? Also, how long does a typical draw actually take, what kind of side effects should I expect—like weakness or anything else—and is there any way to estimate how much my ferritin levels will drop per session?
Is Mayo Clinic not a good option?...

Gary Ross6 said:Thanks for getting back to me.

I have a few more questions on my mind.
Do I need to get a full blood panel done before every single phlebotomy session, or is it enough to just check specific markers like hemoglobin and ferritin? Also, how long does a typical draw actually take, what kind of side effects should I expect—like weakness or anything else—and is there any way to estimate how much my ferritin levels will drop per session?
Is Mayo Clinic not a good option?...

At the very least, you really ought to have a CBC done before getting results.
Everything else regarding hemochromatosis is highly individualized, but generally speaking, here is how it works:
A 500 mL dose of whole blood contains roughly 200 to 250 mg of iron, though that depends on your Hgb levels.
Homozygotes carry an excess of 10-20 g of iron, which is why they have to deal with an extended phlebotomy regimen—you're looking at needing to remove 40-80 units of blood.
From clinical experience, most patients can handle one 500 mL unit of whole blood per week, and younger patients might even manage up to three doses a week.
You absolutely need to monitor ferritin levels as well as iron and a CBC.
As a rule, ferritin levels will drop progressively as iron stores are depleted, but transferrin saturation behaves differently (as you work toward reaching normal iron stores).
In patients with uncomplicated hemochromatosis, ferritin levels typically drop by about 30 ng/mL with each unit of blood removed.
Once iron stores hit the lower end of the normal range, ferritin needs to be below 50 ng/mL and transferrin saturation should be at 50 percent.
At that point, most patients only need maintenance phlebotomy every 2-3 months.
The rate at which iron builds back up varies wildly from patient to patient; it’s entirely individual.
So, the fundamental theory is a 500 mL phlebotomy—one unit of whole blood once a week—until the Hct drops below 37 percent.
If a patient can't tolerate the draws or if there are cardiac manifestations, you administer deferoxamine (in Rhode Island, Exjade is listed as a high-cost specialty drug).
It is advisable to perform the following if you haven't already:
An abdominal ultrasound with a focus on the liver,
AFP,
A liver panel (AST, ALT, GGT, ALP, total and direct bilirubin),
Fasting glucose/HBA1C,
And a TTE.
Mayo Clinic is perfectly fine.

Thanks so much for the thorough breakdown.
My abdominal ultrasound supposedly came back normal.
ALT, AST, and GGT levels are all fine, though my bilirubin is running a little high.
I haven't had any other tests done yet.
Now I’m just waiting on an appointment with a gastroenterologist at Mayo Clinic. And we all know how long those wait times can be...
Thanks again.

I was at the hospital the other day getting some bloodwork done and a liver biopsy.
They performed the biopsy around 3 PM, but they had already sent me home the previous morning. In the meantime, they did two finger-prick blood tests—not entirely sure what those were specifically for—and checked my blood pressure a couple of times.
Is there any real chance of complications following a biopsy like this? Any specific red flags I should be looking out for to know if something isn't right...
Thanks!