Li-Fraumeni Syndrome

Every now and then you all know that I like to share some of the things that I encounter. This week I encountered a disorder that I had never even heard of:

Li-Fraumeni Syndrome

If you are scratching your head at the name don’t worry, so was I! This is something I have never come across. You know me, when I don’t know… I am all over the internet until I do know.

I will say I had no idea such a brutal disorder existed.

Let’s get to the gist of what this syndrome is. The disease was first recognized back in 1969. Drs. Frederick  Li and Joseph Fraumeni were studying familial cancers and this study focused around four families that suffered with multiple cases of young adult and childhood cancers. It turned out that a mutation in a gene, TP53 to be exact, made them predisposed to cancers. Oh, while we are talking about the gene, it’s a tumor suppressing gene (figured I would throw that at you so it makes a little more sense). As if that wasn’t enough, it made the carriers more susceptible to rare cancers. We are talking cancers of the “soft-tissue, bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and acute leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as well as in gonadal organs (ovarian, testicular, and prostate.)”(lfsassociation.org)  This article gives a lot of info

Li-Fraumeni Syndrome is an asshole.

It was the statistics surrounding the genetic mutation that shocked me the most. According to the LFS association, individuals with the mutation have nearly a 50% chance of developing cancer by the age of 40. It gets worse. The risk goes up to nearly 90% by age 60. However, hold on for this one, women have a nearly 100% chance of developing some type of cancer within their lifetime (much higher risk for breast cancer)!

Yeah, I was NOT ready for that particular statistic.

Like I said, Li-Fraumeni Syndrome is an asshole.

What should trigger oncologists to test for this mutation is family history. If a patient has a strong family history of the cancers listed above, especially if family members tend to get cancer at a young age (40 or younger), LFS should be looked at.

So, what made me do some research on LFS? A patient. I came across a young patient coming for a radiological study that had a tumor, while one of their parents was battling cancer as well. Yes, parent and child were both going through chemotherapy at the same time.

Once again, Li-Freumani is an asshole.

I happened to be a part of the care and saw some prior scans of the patient and had never really seen such a large tumor. Someone from the patient’s medical team happened to be down here with us and they were able to tell me the name of this syndrome.

I can’t even imagine what it would be like knowing that I carry such a genetic mutation. Would I ever want to have children? If I decided to have children, would I feel guilty if I passed it on to them? I had this discussion with some of my coworkers and we all had differing views. So bloggaverse, I ask you two things:

  1. Have you ever heard of LFS?
  2. Would you ever have children if you knew you carried the mutation?
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Resident-splaining

One thing that absolutely drives me nuts is having a new resident come to the trauma unit, that I have worked on for almost three years, and “resident-splain” something obvious to me!

What is resident-splaining? It’s when a resident condescendingly “explains” something to you that they assume you know nothing about because you’re just a nurse…

I’ve had a resident (not a very good one at that) start to “explain” calcium in the blood to me. Why? Well, we had given quite a lot of blood products and I asked about giving some calcium as the ABG showed the ionized calcium was low. This is common. Massive infusions almost always drop the serum calcium due to the citrate used in the unit of blood (if this is new to you, here is an article that explains it rather well). Like I said, I know this. Trauma nurses are typically very aware of this because, you know, we give a lot of blood. Trauma… Bleeding… But hey, I’m just a nurse.

Now, she’s not giving me the calcium I need. She starts explaining calcium in the blood and why I should go by the ionized calcium instead of the calcium level on his BMP. Remember, I told her the ionized calcium on the ABG was low… Ionized. Calcium. The level she is currently explaining to me. That level. That’s not enough, she’s not even looking at me while she is talking and it’s in a very condescending tone.

Bruh.

I finally stop her with this statement: “I’m well aware of the purpose of an ionized calcium which is why I told you what it was on the ABG that I just ran (can you hear the attitude in my voice?). I don’t need an explanation, I need calcium. Can you order that or did you need me to throw that order in real quick?” Her:

*blank stare* “Oh, yeah I can put that in for you…” *quickly and quietly begins ordering what I need*

I had no more issues with her for the duration of her rotation on our unit.

It’s irritating. So so irritating. I’m far too outspoken to have someone resident-splain things to me. Don’t try me buddy…

Look at your labs

You have drawn blood, or phlebotomy has come and drawn blood for you. Great. Labs are sent and you go on about your shift. The lab doesn’t call you with any critical values so you figure things must be ok.

And then your patient starts to have more ectopy. His rhythm has definitely changed. Or maybe her blood pressure seems to be lower than normal. Maybe he is more altered than he was.

What’s going on?! This doesn’t make sense. Then you look at your labs… Four hours later…

The values weren’t critical but they are abnormal for your patient. His potassium is 2.9. Her H/H is 7/21, a full three points lower than it was on her last set. His glucose is 61 and he normally runs in the 200’s.

Oh. Ohhhhhh…. Well, shit.

That is four hours that your patient has had abnormal but totally treatable lab values. That is four hours of treatment that your patient did not receive. That is four hours too long. When you send labs or have labs sent for you, you need to remember to check the results. Do not assume that the lab will call you if something is wrong. The lab is responsible for calling when the values are critical or dramatically different than the previous set. However, for some patients, it does not take a critical value for them to exhibit changes. Each person is different, while a hemoglobin and hematocrit of 7/21 may be totally fine for one patient it may be too low for another. One patient may function totally fine with a glucose of 61 while someone that lives higher may exhibit altered mental status. This patient may show no signs at all that their potassium is 2.9 while that patient begins to throw all the ectopy EVER whenever their potassium is less than 3.3. Each patient is an individual and should be treated as such.

Your patient and their labs are your responsibility. Take the minute to give them a check, that minute could save a life.