5-FU & DPD deficiency

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5-FU & DPD deficiency

by KarenD1 on Tue Oct 15, 2013 07:31 PM

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Hi everyone,

I have colorectal cancer. I had a colon re-section, then first round of chemo with 5-FU/Leukovorin/Oxaliplatin.  After suffering bad side effects, I was tested for DPD deficiency.  It came back positive (high risk/fatal).  I lived, and do not want to take it again, even a reduced dose.  I am now at a crossroad.  Is or was anyone else in this situation?  What did you do?  How were you treated?  How did your treatment change?  Any help would be appreciated.

RE: 5-FU & DPD deficiency

by Aarti on Tue Apr 15, 2014 09:14 PM

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Karen,

I know this response is a little too late but my dad had Stage 3 colon cancer and he passed away after his first chemo treatment on March 26, 2014 due to DPD deficiency.  He was given the 5FU drug.  He had a surgery in January 2014 to have a polyp removed after which the doctor recommended chemotherapy so that the cancer doesn't come back.  He was not offered any advise on the DPD test or the severe adverse effects that could occur due to the deficiency.  He didn't think he'd be among the rare few who are deficient and went ahead with the chemo.  His first dose was on March 4th and he was getting the drug through a drip for 2 additional days at home after which the nurse came to take it out.  He started feeling weak on Thursday, March 6th and had severe diarrhea and some swelling on his face and eyes on Friday, March 7th.  He called the doctor and went to see him and the doctor told him to take benadryl for the allergic reaction and immodium for the diarrhea.  On Saturday, March 8th, he started feeling sick again and this time his throat felt blocked or swollen, he couldn't eat so he just had some fluids.  My brother took him to ER that night and they gave him some allergy medicine to help with the swelling in the throat and he was sent home.  On Sunday, March 9th, he still wasn't feeling too good so on Monday, March 10th, my brother took him to the doctor again and this time the doctor did think something was seriously wrong so they got him admitted to the hospital.  An antidote called Uridine Triacitate was given to him to counter the affect of the chemo drug 5FU in hopes that he would recover but that antidote is to be given 8-96 hours after the chemo dose and they caught this a little late so my dad received it at the 100th hour.  Uridine Triacitate has been successfully used on 133 patients who have been overdosed on 5FU and suffered from a toxic reaction so the doctor thought it might work in my dad's case as well.  My dad was in a regular care room for 5 days from March 10th - March 15th and was shifted to CCU after that because he couldn't swallow at all and had severe diarrhea and an infection in his blood due to low white blood cell counts.  They had to put a tube down his nose to his stomach so that they could give him the antidote since he couldn't swallow anymore.  A couple of days after moving him to the CCU, they had to sedate him and put an oxygen tube in his mouth to help with his oxygen levels.  He didn't communicate with us at all after that and passed way on March 26th, 2014 - 16 days after being hospitalized.  A DPD deficiency test was done on my dad after he was hospitalized and the results came back positive.  I am upset that these oncologists don't have the DPD deficiency test listed in their standard procedure.  My dad's oncologist said that the test is only 50% reliable so we don't do it.  50% is good enough for me.  I know majority of the patients are able to handle 5FU but what about the 5-8% who aren't able to?  Is there no value for human life?  My sincere request to anyone going for a consultation to start chemotherapy is to talk to your doctor about getting the DPD deficiency test done and the adverse effects of 5FU discussed.  Things need to change and this test needs to be made mandatory for every cancer patient because majority of the times it's not the cancer that kills, it's the treatment!!!   

RE: 5-FU & DPD deficiency

by mainelyj on Fri May 23, 2014 05:43 PM

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Hi Karen,

The same thing happened to me.  Colon Cancer, Resection, Stage 3a.  First round of chemo bad side effects.  DPD test was positive for 1 mutation IVS14+1 G>A.  It's six weeks since my first chemo and still not fully recovered.  Oncologist is recommending no more chemo even at reduced dose.  What did you do?  

RE: 5-FU & DPD deficiency

by KarenD1 on Fri May 23, 2014 07:36 PM

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Dear Aarti,

I apologize that this response is so late.  Let me first send my deepest condolences for the loss of your father.  How very frustrating it is to deal with doctors.  What they do and how they treat patients is dictated by what insurance companies will cover.  A genetic test is not something that they want to advertise is available, due to the cost.  The insurance companies figure that 5-8% of us are expendable versus paying for everyone to get the test done.  That disgusts me.

My heart goes out to you, becasue to lose someone is difficult enough.  To lose someone when it could have been prevented is another thing altogether.  I imagine you feel the loss even more intensely.  I am so sorry, and can't imagine what an awful experience it was for you.

I agree with you regarding the availability of the test.  I believe that the only reason the doctor did the test for me (I had to sign my life away first, pretty much), is that I was my own advocate and did extensive research on my condition and the medications that I was prescribed.  I am small and have always been VERY sensitive to any medication.  I clearly warned my doctor of this several times before my first treatment, and explained my worry of getting too much drug.  Of course, it fell on deaf ears...

I fortunately survived the first infusion, but then I went to Sloan in NYC (I live in CT) for a second opinion after the positive DPD & TYMS test, because the side effects were so bad, and I was scared. They suggested a lower dose and different dosng schedule (bolus vs infusion).  My doctor consulted with others - some told him to stop treatment, and some said use a lower dose.  Of course, the decision was mine so that he nor the hospital would have any liability.

It is such a shame that doctors are still only "practicing" with this being around for so long.

After I was tested positive and did more research, I realized how many people have been sacrificed at the hands of doctors and insurance companies.  I wanted to scream throughout the Oncology office everythig I knew about this test and its availability.  I would have gladly paid for the test, even if my insurance denied it.  Unfortunately, it was never offered to me until after the first dose.  For whatever reason, they have no problem testing someone AFTER they have passed.  It is very depressing and I don't wish to make you upset.  It is just so freaking frustrating.  

I am the only case in my doctors office with this defficiency, and I have asked him to at least make his patients aware that ths test exists after this experience with me, but you know how it is...

Again, my heart goes out to you for your loss.  Thank you for sharing your experience with me.  

May you find comfort in the memories of your father that you hold most dear,

Karen

RE: 5-FU & DPD deficiency

by mainelyj on Sun May 25, 2014 03:51 PM

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Aarti,

I am so sad for you. It is a traversity of medicine that this happened to your dad when a simple test could have probably saved him and saved the family from your painful  loss. The first motto of medicine is "do no harm".   It is unexplicable for me why everyone is not informed of the risk and tested for DPD before being treated with 5-FU.  I saw 4 oncologists before treatment and was not told by one of the dangers of this drug for people with a DPD deficiency although it is a box warning on the FDA label.  

I have stage 3a colon cancer and had my first adjuvant therapy April 9, 2014.  After suffering severe side effects I Goggled 5 FU intolerance online myself and learned of DPD.  I had to ask my Oncologist for the test and told him the lab and test #. It was not offered to me. He didn't think I had it but was fine with doing the test. It was a relatively inexpensive test around $200 I think from Quest and it came back positive for theIVS14+1 G>A mutation.  Fortunately unlike your dad I had just the one mutation and am recovering although still not fully.

It is not in the standard of care that oncologist inform patients of the DPD Deficiency and the availability of the test. I think the prevalence is much higher than generally listed. If oncologist aren’t routinely testing for it even after severe toxicity how can it be established how prevalent it is. I keep seeing in studies this type of statement that it is a cost issue... 

******

Pharmacogenetics in Oncology: A Promising FieldCurrent Pharmaceutical Design, 2010, 16, 155-163 155  1381-6128/10 © 2010 Bentham Science Publishers Ltd.

 

It is clear that DPD deficiency is related to severe 5FU toxicity and this may lead topretreatment screening either by genotyping or phenotyping [24,25]. The IVS14+1>G splice site mutation is the most common cause ofDPD deficiency. Genetic pretreatment screening of this mutation toprevent severe toxicity may be considered. However because of thelow absolute prevalence of this mutation (1.3%), it is unclear if thisapproach is cost effective [26-28].

******

As soon as I am more recovered I will complete the FDA adverse reaction form for this drug and I will visit my US senators local office to request help and attention to this issue that is killing hundreds of people every year unnecessarily. 

 

 

RE: 5-FU & DPD deficiency

by Laney8 on Wed Sep 24, 2014 09:45 PM

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Hi Karen,

I am reading these posts because my husband has colorectal cancer and has had radiation and 5FU which was just stopped as he has hand & foot syndrome pretty bad. I was very upset that the doctors were not on top of this. He has problems turning on a light. They stopped it a week early. I see you are talking about a DPD deficiency. Could my husband possibly have that or is hand and foot  a normal side effect? After surgery he will have to have 6 more months of chemo. I am starting to research and possibly find another drug for him.

Thank you in advance.Bonnie

RE: 5-FU & DPD deficiency

by KarenD1 on Thu Sep 25, 2014 02:03 AM

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Hi Bonnie,

First, I am so sorry to hear that you and your husband are going through this difficult time. I applaud you for doing research on your own. 

Staying as educated as you can is the best thing that you can do for your husband. Know what medications he is taking and find out what you can about them, and what other options exist. Review the side effects so that you can recognize them early and treat them. ALWAYS let the doctor know of any changes, even if they seem insignificant.  A lot of what you read is scary, but I found that I preferred to try to sift through a lot of the scary and difficult stuff, rather than be uninformed.  I am grateful to those on this site who were willing to share their experiences, because I learned a lot from them, and it helped me very much.

To address your question...The only way to determine DPD deficiency is to have the test done.  It is a simple blood draw that is sent out and the results can take a few days to up to 2 weeks to get.  I believe that hand/foot syndrome is listed as a "rare" side effect of 5-FU.  After reading posts, though, many people seem to experience it to some degree. But it can also occur at so many varying levels of severity.  However, if it is extreme, then I would not let it go.  I believe that there is medication available for extreme cases of hand/foot syndrome to help to ease his symptoms, and perhaps someone else will also respond to this thread to discuss that. My hand/foot syndrome and mucositis were manageable, so I was very fortunate in that respect.  

I am sorry that I cannot be of much help here.  I will say one thing, though - Please do not be afraid to speak up to the doctors.  If your husband is suffering, do not be afraid to call the doctor and let them know what he is experiencing, and ask what options are available. If you have a doctor that does not give you the time to answer your questions and discuss options with you, then FIND ANOTHER DOCTOR.  It is critical to find a doctor that both you and your husband are comfortable with.

I don't know what stage your husband is, but please stay strong and positive.  Your strength and will help your husband more than you can imagine.

I wish both you and your husband well.  I have posted this response, because there may be others that are experiencing severe hand/foot syndrome, and they might be able to offer some help.

Please feel free to write me privately. I would like to know how your husband is doing, and I am happy to share whatever I have learned/experienced if I think it will help you.

Karen

 

RE: 5-FU & DPD deficiency

by bamarally on Tue Jan 05, 2016 10:53 PM

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Aarti,

Thank you for posting. My girlfriend-fiancee of 5 years passed away last Valentine's Day due to complications of 5-FU chemotherapy. On November 23, 2014 at approximately 9:00 am, I had to take her to the emergency room with severe abdominal pain. They diagnosed her with gallstones. I asked the doctor if she could have appendicitis, which he told us no. She was released that afternoon at 1:45.

That same evening she started having even more severe pain, I took her back to the emergency room at approximately 7: 00 pm. They did a CT scan and found the appendix was inflamed. They were not able to get a surgeon right away so by the time they got her under the knife at around midnight, her appendix had ruptured.

About a week after the surgery, we got a call telling us the biopsy on the appendix showed cancer, specifically, mucinous a demo carcinoma with signet cell features. We were urged to have her see a specialist for a procedure called, 

hyperthermic intraperitoneal chemotherapy (HIPEC)

The procedure was done on January 21st. The operation included the removal of part of her colon, her ovaries and uterus, and the premium. At this time they performed the heated chemo wash. The surgery went very well. The next day they started to administer the 5-FU through a tube inserted into the abdomen. This was followed by 6 hours of having to rotate her to spread the chemo. Then, they would suction it via another tube inserted on the other side of the abdomen. This continued for 5 more days. She started going down hill after about a week. Severe mucositus, hair loss, depleted white blood cell count, and low blood platelet count. By day 12 she had lost all of her hair and had to be sedated for pain. It was not until then that the doctor told me her symptoms were likely genetic and possibly the lack of certain enzymes that prevented her body from metabolising the chemo. He then told us there are tests available to detect this enzyme deficiency but it is so rare that they don't perform these tests. When I asked him how rare he told me "about one in a thousand" To me, this is not rare. On February, 11th they had to take her to ICU. She was sedated and put on a ventilator. 3 days later, she was gone.

In reading other posts on this site, I have encountered numerous stories much like Kirstis. I am outraged that the doctors and oncologists refuse to even suggest, or make the patient aware of the availability of these tests. Had I been aware of the dangers of 5-FU by reading these posts earlier, before she had received it, I would have demanded the tests done! 

What is being done about this? Has anyone successfully sued over this issue of not been notified of available testing?

My heart goes out to all who have had to endure, or watch a loved one endure the ravages of 5-FU.

Brian

RE: 5-FU & DPD deficiency

by Roch1985 on Sun Jan 31, 2016 01:40 PM

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Hi,

It must be painful for you to face such problems. I would request you to please check following link on drugs that most commonly used for colorectal cancer and their specific side effects I hope this may be useful

http://www.oncologybiomarkers.com/2016/01/chemotherapy-for-m

RE: 5-FU & DPD deficiency

by JGWRNCHPN on Sun Feb 28, 2016 09:17 PM

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On Oct 15, 2013 7:31 PM KarenD1 wrote:

Hi everyone,

I have colorectal cancer. I had a colon re-section, then first round of chemo with 5-FU/Leukovorin/Oxaliplatin.  After suffering bad side effects, I was tested for DPD deficiency.  It came back positive (high risk/fatal).  I lived, and do not want to take it again, even a reduced dose.  I am now at a crossroad.  Is or was anyone else in this situation?  What did you do?  How were you treated?  How did your treatment change?  Any help would be appreciated.

My mother in law has been receiving 5FU and was due for her 8th infusion. The last 2 weeks, she has been in the hospital 5 seperate times, receiving fluids, from severe diarrhea and also has sores all in her mouth, etc.  They found her out port was leaking as well and placed a new port, then started her on nasal feedings because she was unable to eat and she is very very weak. She got discharged from the hospital yesterday on TPN nutrition through a PICC line and the Dr has her scheduled tomorrow for her 8th infusion of 5FU again...Doesn't this seem a bit much? She has only been out of the hospital for 2 days and is still so weak, my brother in law had to go lift her out of the bath tub yesterday.

Also, I forgot to add, they found a blood clot in her neck during the hospital stay, and she is still unable to eat, but they think it is ok to restart chemo tomorrow???? Does anyone have any information on this? She has already had 7 doses.

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