Hereditary Hemochromatosis with MDS

[Charlie Morriss]

I’m hoping to contact and collaborate with other patients who have hereditary hemochromatosis and MDS.

Hereditary hemochromatosis (HH) differs from the kind of hemochromatosis one might acquire from blood transfusions. HH is a congenital, genetic disorder in which the the body, from birth, stores much more iron than it needs and deposits that iron into vital organs. The effects of this genetic trait do not usually appear until the fourth or fifth decade of life when the consequences of genetically programmed iron storage begin to damage the liver, heart, pancreas, and many other organs. A simple DNA test confirms that symptoms are consistent with HH. Treatment consists of therapeutic phlebotomy to remove stored iron.

Some MDS patients are diagnosed with ringed sideroblasts (RS). These are incorrectly formed blood cells that contain granules of iron and they cannot be properly utilized by the body. There have been a few studies that have attempted to discern whether there might be a correlation between patients who are diagnosed with HH and and who are also diagnosed with MDS plus RS. The results have been inconclusive, but interesting.

I was diagnosed with HH two years ago. As I began therapeutic phlebotomy, my hemoglobin began to fall and other blood counts moved out of normal range in a manner that was inconsistent with HH. After a recent bone marrow biopsy I was diagnosed with MDS/MPN-RS-T, which is also sometimes referred to as RARS-t.

HH with MDS is a rare combination, and I thought it would be helpful for like-minded patients who’ve been diagnosed with both of these disorders to stay in touch with each other.

If you’ve been diagnosed with both HH and MDS, I’d be grateful to hear from you. Please reply.

• This topic was modified 6 years, 8 months ago by Charlie Morriss.

[kathleen]

Charlie, my husband has HH and was diagnosed with MDS in July 2007. Vidaza was the most successful treatment for the past 8 years and he was taking Jadenu for the HH. He transitioned to AML in June, just finished induction, 40 days inpatient, and now loking forward to bone marrow or stem cell transplant. During chemo he was off the Jadenu and his iron levels have not been elevated since. He never had therapeutic phlebotomy. He is 70 and otherwise in good health.

[hollyhocks]

Hi Charlie! I also have Hereditary Haemochromatosis(HH) with MDS RARS so was very interested to read your post when researching the topic on line. I am 71, I live in the UK and was diagnosed with HH in 2004. Weekly venesection for 18 months reduced my serum ferretin levels to the recommended 20-50 ug/L During this time my blood counts were low & my Haematologist recommended a bone marrow biopsy, I decided not to go ahead with it as my husband had just been diagnosed with prostate cancer & I thought I had enough on my plate at the time. My husbands surgery went well and he made a good recovery & my serum ferretin remained stable with intermittent venesection. In 2010 we moved to a new area so had a change of Hospital & doctor, a routine blood test showed that my blood count was low and a bone marrow biopsy showed that I had MDS RARS. I was the first patient that the hospital had had with the two conditions, the haematologists thought it was too ‘risky’ for me to have venesection so my serum ferretin was allowed to rise & I became very unwell with iron overload & developed Porphyria Cutanea Tarda as a result. I was eventually referred to Kings College Hospital in London, a centre of excellence for MDS, I was given high doses of Deferoxin (chelation therapy) and venesection to reduce my iron load, I developed Acute Kidney Injury (AKI) & Acute Hepatitis & was hospitalised for some time. I had remained iron deplete for the past 18 months & have not required venesection during that time, my blood counts have been reasonable & have not needed transfusing. I have had a couple of infections needing antibiotics this year and I am experiencing frequent & prolonged episodes of fatigue. My last serum Ferretin was above 50 so will need venesection before too long. The medical team are not quite sure how they are going to manage my condition long term as non of the current treatments or even drug trials seem suitable, I am just told ‘it is complicated’!! I did read something on the internet that suggested that the combination on Hereditary Haemochromatosis & MDS RARS did afford some protection so I am hoping that is the case. I belong to the UK MDS Support Group & as yet have not had contact with anyone else with HH & MDS RARS. I would be really interested to hear about your experience, treatment etc Charlie. Thank you so much for reading this if you managed to get to the end! Best wishes Heather

[Charlie Morriss]

Hollyhocks:

Thank you for the response. I apologize that it has taken so long for me to get back to you. Thank you for sharing.

I’m in a tight spot. for the past year, I’ve required about 35 transfusions. My hemoglobin bounces around between 8.5 and 7.5, and I have been as low as 6.4.

I began taking Jadenu three months ago, and I had to terminate it. My ferritin was approaching 1,000 at the time. Unfortunately, my liver reacted poorly to Jadenu. I’ve tried repeatedly to start taking it again, but each time I do, I become weak, diarrhea, and my liver enzymes (ALT and AST) along with bilirubin shoot through the roof. My doctor has recommended that we discontinue it completely.

This is problematic because as I continue to receive blood transfusions, my ferritin creeps higher. I am faced with either moving forward on a stem cell transplant or waiting for Luspatercept to become available. Luspatercept is VERY promising for RARS. The trials suggest a 60% + response rate. Unfortunately, there is no word on advance release of the drug, and it won’t be available generally until the summer of 2019, supposedly.

I can live with my ferritin in the 700-800 range according to my doctor. I am hoping that I can hold out until (or if) Celgene decides to allow advance releases. Until then, if my ferritin rises above 1,000, my doctor recommends moving forward with the transplant. I’m doing everything I can to avoid transfusions, waiting until my HGB is in the low 7.0 range before accepting transplants.

It’s a crazy balancing act. I’m doubly cursed. I don’t know what will happen. I hope Luspatercept becomes available.

I hope you are well.

Charlie

[Elisabeth Paes]

Hello, Charlie. I’m 64 y.o. and I was dx with MDS with refractory anemia type since 2007, though I have anemia since my childhood. I also have HH, but heterozygote. Anyway, I’ve been with high iron levels since menopause, 20 years ago. Ferritin between 500 to 900, until 3 years ago, when I was dx with Adrenal Insufficiency, probably as a result of many years with iron overload.By then, Ferritin was above 1650, hemoglobin went down to 7.9. I needed a few transfusions (3 in total) and cortisone since 2015. I was treated with Functional Medicine, so lots of supplements, probiotics, enzymes, etc. Bedridden for about 2 years, I finally got some strenghts back and learned how to live with all the symptomes. Two years ago I started with LDN 3.0 mg, and I think this medicine stabilized the MDS and improved all the other symptomes I have. Now I moved out to the US (I’m from Brazil) and I’m struggling to find a good integrative doctor to keep my treatment. My experience so far hasn’t been positive as doctors tend to see you as a bone marrow or a liver or a heart, never as a whole person that needs help.It’s so mechanical! They want to give you all kind of drugs that causes you side effects, bringing you new symptomes and more and more drugs. I do a lot of research about health alternatives, so I can discuss with my doctors what is the best for me. A good diet is also very important, but usually doctors don’t know about that.Take care, Charlie.

[hollyhocks]

Hi Charlie, it was really good to hear from you, but not so good to hear that you are having such a difficult time with your health at the moment. I do hope things improve for you before too long, such difficult & complex conditions to have to cope with.

Reading through your previous post I can see that your MDS RARS was diagnosed not long after your HH diagnosis. Poor you, your bone marrow would have found it impossible to keep up with the regular therapeutic phlebotomy. I think I have been more fortunate in that there was a six year gap between HH diagnosis & MDS diagnosis. So following regular phlebotomy, my ferretin level had been stabilised between 20-50 at that time. Although I had had episodes of low blood counts during that time, I only needed transfusions following Surgery for breast cancer & hip replacement. The low blood counts were not investigated until picked up by my GP in 2010 & I was referred to Haematologist for BMB.

No one was quite sure how to treat me at the that time, phlebotomy was considered to be unwise, as a consequence, I developed iron overload. As I became increasingly unwell I was referred to a Specialist Centre in London, treated with Exjade (Deferasirox) & phlebotomy. Like you I had a bad reaction to the iron chelation treatment & ended up in hospital with Acute Renal Failure & Hepatitis.

Currently, I am reasonably well & my blood counts reasonable, my ferretin levels are kept low with therapeutic phlebotomy as & when required. I have requested that only 250 ml of blood is taken off each time as I am so unwell afterwards.

I was considered not suitable to be included in the Luspatercept trial, but like you I have heard that it is showing great promise in treating MDS RARS. As I am 72 & have additional health problems I have been told that a Transplant is not an option. I continue on ‘Watch & Wait’ & try to keep as well as possible whilst maintaining a positive attitude, difficult at times, but I am a private person & do not share my problems with many people.

This is the web address for the UK MDS Patient Support Group, you may find some useful information on there. There is also Closed Group on their Facebook page with a membership of around 600 people, many from around the world. It’s quite an active group, very supportive, lots of postings. I have found it useful in getting a better understanding of MDS, treatment options & effect. As yet I have not met anyone on there with HH & MDS RARS!

https://mdspatientsupport.org.uk

Take care of yourself Charlie & keep strong, as you say it is a very difficult balancing act & full of complications.

Best wishes Heather (Hollyhocks)

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