Hemochromatosis: A common disease with many faces
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- Опубликовано: 20 июл 2020
- A common disease condition having many faces.
Patients with hemochromatosis may have been diagnosed as liver cirrhosis, heart failure, fibromyalgia, diabetes, or even Parkinson's disease.
Accurate diagnosis starts from good suspicion. After watching this video, you may discover the true face of many dubious diseases.
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My step dad developed iron overload as he aged. For other reasons he went on a keto diet for four months, lost 40 pounds, then continued to eat healthy. His iron problem went away.
Congratulations to him!
I just want you and other audiences know that hereditary hemochromatosis cannot be treated by diet alone. Both diet and phlebotomy are combined.
However, secondary hemochromatosis which is commonly caused by too much iron intake, alcohol consumption or multiple blood transfusions can be treated by diet alone.
@@stanleykim1924 understood.
Its like the difference between type 1&2 diabetes.
If the iron overload is caused by NASH, would phlebotomy a good option? Thank you.
@@stanleykim1924 my transferin saturation is high at 47.8 all other results normal.i have fybromyalgia years I have eds Asperger's found out all other things are Celtic?
Diagnosed with HH C282Y in late 90s. I have studied and researched HH for over 20 years... and I learn something new every day. My belief is to strive to be the smartest person in the room (doctors exam room, or phlebotomy center). About to turn 71 and have shifted my diet to a carnivore "adventure" which has helped me lose 50 + pounds, reduce my inflammation, improve my blood pressure and cholesterol. Currently off BP meds, and statins. The adventure continues. All the best Dr. Kim, nice presentation.
Thank you and best wishes for you!
Thank you. I have hemochromatosis and feel very alone even though it’s supposed to be fairly common. My first symptom was super painful joints. Hands and knees mostly. Then my super smart doctor tested me and I thank her so much for knowing about this...wish she was still my doctor. Oh well, insurance dictates our lives.
Are/have you been getting treatment like say phlebotomies or anything since the diagnosis?
That was an excellent and comprehensive explanation. Thank you very much
Ofcourse the serum ferritin level is a major indication parameter but I also wonder if there are already some general indications or standards for various iron concentrations of depositions in different organs (liver, heart, pancreas, bones etc.) because theoretical it is possible that people with a relative late diagnosis (+55 years) of around 1500 ng/ml may have developed some high local iron organ concentrations over all those years.
Hi Great video. Extremely informative. Thank you
Diagnosed with Hereditary Haemochromatosis 8 years ago after getting food poisoning in Egypt. I think I might have got salmonella then and its still in me. Dr. is doing a blood culture currently. So its nice to see you highlight salmonella as iron loving, I didn't know that. Perhaps I'm finally about to find my problem.
nice lecture
Most clear understood video the seen yet.
Thank you, Dr.
Heterozygous with both c282y/h63d. Also diagnosed positive with alpha-1.
Wondering how alpha-1 and HH correlate with each other?
Thank you...You make it easier to understand... Appreciated 😊
You’re welcome
Very helpful vedio sir🙏
Thank you!
You’re welcome!
Thanks a lot
You’re welcome
what is the biomarker of the HH and that is the technology used in the diagnosis ?
My brother died of a brain anyerism, his heart had stopped three months prior and he was in a beautiful garden, he said he didn’t want to leave, Christ face was shining like the sun arm extended to him. Mulvihill and Shea ,Moore are family names. My brother is a carrier of HH his son has it. I have all the symptoms. Had extreme tiredness in my 30’s but I regularly give blood. My grandma was Red Cross nurse. All the health problems in our family is in heart ,liver pancreas. I have fibromyalgia,low thyroid. Where can I go for genetic test?Your lecture very helpful.
Sorry to hear: loss of your brother.
The hereditary hemochromatosis gene test is a very simple blood test. Just ask your family doctor to order ‘HFE gene mutation’ test for hemochromatosis.
As I mentioned, heterozygous C282Y or H63D gene mutation usually does not cause hemochromatosis unless patients take iron, iron rich food, and alcohol.
I am heterozygous for H63D, my entire family on my mother's line has hemochromatosis, so in some way we inherit it dominantly. I was diagnosed at 38 years old, with 1200 ferritin and a saturation of 50%, 90umol/g of iron in the liver.
Hello. I had blood work done, my TIBC is low which indicates too much iron but my ferritin was normal yet my rbc was low. What could that indicate. My two uncles do have hemocromotosis. Thank you.☺️
I recently found out I am heterozygous H63D with Pro570Ser? I have 125% Iron sat low tibc and normal range of ferritin. Have joint pain muscle pains primarily in my calves and sometimes my thighs. It’s rough. I’m still eating for my first appointment with my hematologist/oncologist.
Is Hemochromatosis common along with ITP or likely to be an outcome?
Excellent presentation! I had a question about something you mentioned. I tested positive for hemochromatosis, though I'm not sure what gene combinations I have (I've been referred to a hematologist next month). However, my red blood cells (5.89), hemoglobin (18.3), and hematocrit (54.2) were all high. Are those numbers common with hemochromatosis? Or does this suggest I might also have polycythemia vera? You mentioned both on the slide about donating blood. I'm a 41 year old male.
Yes, you need to check for polycythemia. A competent hematologist should be able to take care of your problem.
Wish you the best and a good health!
@@stanleykim1924 Thank you so much!
I wonder if my brother died of haemochromatosis. He was tired all the time. Then eventually he turned yellow and died about six weeks later. He used to drink too much, so I thought it was that. However, I think he had a medical once and they pointed out the danger. I had completely forgotten about that, because it was about twenty years ago. My brother had some weird phobia of doctors. He refused to seek medical help. He did not complain of joint pain and he did not turn bronze coloured, although he developed a strange skin condition. He was covered in red spots. He looked terrible. He had a mini-stroke some years ago. His mother was Irish, although his father wasn't.
is she not your mother also, nothing wrong being Irish.
@@chrismullan7191 Nothing much wrong with being Irish, except they tend to get haemochromatosis more often. Anyway, the postmortem said he died of alcoholism.
@@KevTheImpaler sorry for your loss, my brother died young, ended his life, i was just told have to much iron, waiting for more blood tests 15 Aug.
@@chrismullan7191 Sorry for your loss too.
I was diagnosed 25 yrs ago, at age 35 with hemochromatosis. My mother was diagnosed in her 60’s. I have been on a maintenance phlebotomy plan (but more recently since menopause). In the last 10 yrs, I’ve been suffering with tremendous joint/muscle pain, which was diagnosed as Fibromyalgia. Now I’m wondering if it’s actually hemochromatosis.
how often are u having blood removed ??
@@alexc9963 I was going every other month, but my ferritin dropped down to 12, so they’re readjusting to every 3-4 mos.
@@pattytyndall1021 hope all is well
@@alexc9963 thank you…it’s better now since they’ve extended the phlebotomy intervals.
Thank you for your information. I carry C282Y variants A/A and H63D C/C, DX 2020 w/Autoimmune hemolytic anemia & cold agglutinins (polyclonal).. 2023 Labs: Ferritin 634; Iron 199; TIBC 219; Iron sat% 91. (Increased Fe/iron labs first noted increase in 2020). Hgb & RBC stable at just below normal levels. How would you know if the high Fe/iron is from Hemochromatosis or the anemia?
From hemochromatosis because high transferin saturation. Unless you received many blood transfusions, cold AIHA causes iron deficiency as it is intravascular hemolysis. Your hematologist should be able to clarify for you.
@@stanleykim1924 Thank you for your quick response, I appreciate it. I’ve never had any blood transfusions. I am gathering questions for my hematologist for my next visit.
Dear doc, My ferritin and CBC are normal but serum Fe is elevated. And I'm not taking any supplements. My Fe should be between 65-175 but it's 239. My ferritin should be between 25-365 and it's 153. Should I be worried? I'm not European by the way. Could it be just too much iron in my diet?
Blood iron levels fluctuate daily. So don’t worry and check the iron several time in near future
@@stanleykim1924 Thank you very much doctor.
@@stanleykim1924 Dr. Kim I just realized the milk I'd been consuming before my blood test was fortified with Iron. I guess we have to take these fortified products more seriously.
What to do if you are a homozygote for H63D but your iron levels test normal over a couple years, but your bone density is low & you have osteoporosis, plus osteoarthritis in hands, gout in toes, and a foot fracture? Phlebotomy is useless in this case and won’t reverse the arthralgia.
i think we had a meeting with you in Amsterdam in 2019 EHA conference.i took a selfie with you
Can it cause gastritis? and burning stomach. Because I do have iron overload thanks
I am not sure. You may have 2 different problems.
I am homozygous H63D, and I feel much better giving blood six times per year.
Wondering if women with Hemochromatosis also tend to suffer from Endometriosis ?