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?

GFR

Now that I am in the radiology department I spend a lot of time focusing on GFR and kidney function. Why? Good question!

In MRI and CT we give contrast to a lot of patients. In CT the contrast is iodine based. In MRI the contrast is gadolinium (metal) based. Both types of contrasts are filtered out through the kidneys and thus the reason kidney function is so important in this department. The way we assess kidney function is by checking a patient’s creatinine level in their blood. Luckily for us we have machine called the i-Stat that can test the blood and give a result in two minutes. The result transfers into Cerner (our EMR) and the computer then uses that result to calculate the GFR. Great… except I didn’t really have an understanding of why we were checking the creatinine, what GFR really was, or why there is a GFR result for African Americans and non-African Americans. I decided to do a little reasearch and I figured, since this is a nursing blog and all, why don’t I share what I have learned?

What is “GFR”?

GFR stands for glomerular filtration rate. Basically, the GFR tells you the flow rate of fluids through the kidney. Your glomeruli are the capillaries in your nephrons inside the kidney. Blood is filtered across the capillary membranes helping to remove waste that can ultimately be excreted through the urine. Taking you back to anatomy and physiology in nursing school aren’t I? *shudders*

A simple google search will bring up lots of GFR calculators. Typically the GFR calculator takes into account serum creatinine, age, gender, and race (African American versus not) and then it will give you the estimated GFR. A GFR >60 indicates a generally healthy kidney. Less than 60 can indicate potential kidney disease. Less than 15 can indicate full on failure. Here is a little infographic that is patient centered.

Why creatinine?

Why does the GFR equation use creatinine? In the most basic terms, creatinine is a waste product of creatine. Creatine is used by the muscle cells for energy. Your kidneys help filter the creatinine out of the blood to be excreted in the urine. Low creatinine typically indicates good kidney function (which makes sense, healthy kidneys will filter out creatinine effectively). High creatinine indicates the opposite, kidney function is probably on the lower end because the kidneys are unable to filter out the waste product. Creatinine is primarily filtered out through the kidneys which is why it is a pretty good indicator of kidney function.

Why is the result different based on race?

Many, many times I have looked at my labs and wondered why the GFR had a result for African Americans and then essentially everyone else. It wasn’t until I started working here and paying attention to the GFR that I decided to look it up. Turns out studies show we have “higher than average” muscle mass so we generate higher levels of creatinine. Higher creatinine levels lead to higher filtration rates. The difference in results account for this.

Now I can actually explain to my patients why I am taking blood after I start an IV. I like to be able to asnwer my patient’s questions so of course I had to do a little learning on my end. Hopefully some of you will also find this information useful! (Also here is a great reference for frequently asked questions from the National Kidney Foundation because, why not!)

Teach back

Get your patients to “teach back” what you have taught them. Get them to repeat what you have taught them. You may be surprised at how little information your patient has absorbed from the education you have given. Using the “teach back” or “repeat back” method can help you gauge just how much information your patient is retaining.

With the “teach back” method, it’s exactly as it sounds. You get your patient to teach you what you taught them. This method is really effective for education that involves hands on training. Things like changing a colostomy bag at home, changing a wound dressing, giving tube feeds, doing peritoneal dialysis, etc all require a lot of teaching. These are thing you want to make sure your patient understands before they return home. When you get them to teach it back to you then you know that they have an understanding of the information they have received. As they are teaching it back, you can correct them if necessary and give them little hints to help them with the process.

“Repeat back” works well with information that may not require as much hands-on work. I found that it works well with my patients that are being sent home with multiple prescriptions, especially different inhalers. I had a patient with COPD and asthma (and yes, she still smoked, how did you know?) that had both Symbicort and an albuterol inhaler. She ended up on our unit from a bad asthma attack. When she started to get wheezy I took her the albuterol inhaler to help open her up and she refused. I couldn’t understand why. She said “that’s not the one I need for my asthma, I need the other one”. Confused, I asked her if she was referring to her Symbicort. She said yes, that’s the one she takes when her asthma flares up. She took her Symbicort whenever she felt tight or wheezy and took her albuterol twice a day. OH, nooooooow I know why you’re in here. I tried explaining to her that the Symbicort is for her COPD, not asthma. She argued with me for a good 10 minutes that I was wrong. I had to not only print out information on Symbicort but also have the doctor talk to her before she accepted that she has been using her meds wrong this whole time and that is why she was in the hospital. Upon discharge I made her repeat the education I had given her and show me which inhaler was her twice daily inhaler for COPD and which inhaler was for her asthma. I felt comfortable that she understood her meds upon discharge.

I think this teaching our patients about their health is where the medical system is lacking. Often, we are in such a rush to get people out so we can get people in that we just assume the patient understands because they didn’t ask any questions. Often, it’s the opposite. Some are embarrassed to say they don’t understand. Some can tell we are in a rush and don’t want to bother us by asking us to repeat what we have told them. It is up to us to make sure our patients are leaving with a full understanding of their health and their medications.

Consent and ethics

Nursing is fully aware of consent. We know that we need to have documentation that the patient accepts this treatment. It’s a no brainer. But, what if the patient doesn’t want treatment and the power of attorney does?

Prime example, you have an elderly patient that is obviously letting the family talk them into surgery. To no one’s surprise, it doesn’t go well. They end up sick. They have to remain intubated. They need an art line, central line, pressors, the works. Even on the ventilator they are adamantly shaking their head no to all the things you’re trying to do. They are fighting. They keep trying to pull away. They don’t want this.

Their family does.

The POA is who the doctors decide to ask for consent to treat. They completely bypass the patient. They’re intubated, they can’t answer for themselves right? If course the family wants everything done… So, everything is done. Is that fair to the patient?

Shouldn’t the patient be allowed to say no without having someone else choose otherwise? What is the fine line that decides when a patient no longer has the capacity to make their own decisions? Does intubation automatically take away that right? Does having a POA take away that right? If a patient is clearly communicating, even in the vent, shouldn’t we respect their wishes?

The nurse in me says yes. The nurse in me says to respect my patient’s dignity.

The nurse that’s been at the bedside for almost 8 years knows that that is normally not the case.

I have seen advanced directives ignored because the patient is unconscious and the family isn’t ready to let go. I’ve seen cases like the one mentioned above. I’ve seen doctors watch as the family is almost forcing a patient to go along with treatment and the doc just goes along with it as well. I’ve had to be a part of “moral distress” meetings because nurses were stressed over the ethical dilemmas involved in certain cases. When do we stop?

PJP and HIV

Most of us are aware of HIV and how it affects the body. We have been taught how the virus attacks and destroys the immune system. It is not the attack on the immune system that directly kills a person.  It’s all those opportunistic infections that eventually weaken and often times finally kill HIV/AIDS patients.

PJP, “pneumocystis jirovecii pneumonia”, is one of the most common opportunistic infections to befall an HIV positive patient. This particular type of pneumonia (or as one of my patients pronounced it “ammonia”) is caused by a fungus commonly found in the environment. For those of us with a normal immune system, it does us no harm. For the immunosuppressed patient, however, it can be dangerous and possibly deadly. For a patient with severe PJP, it can lead to ARDS which has a high mortality rate. Having HIV does not mean a patient will automatically become infected with PJP. The infection typically manifests when the CD4 count is low. This is a really good article describing PJP and its relationship to HIV/AIDS. Here is another good article by Medscape that talks about the fungal pneumonia and how it functions.

You are probably wondering what made me write a blog on a type of pneumonia that you may not have heard of before. Well, I am a nurse and also a state certified HIV tester. HIV is becoming a passion for me. However, that’s not the only reason. See, back when I was a med-surg nurse, we had a patient that I can’t forget. He was a 22-year-old young man that was in and out of the hospital with chest pain, complaints of difficulty breathing, fever, and other rather generic symptoms. His chest CT showed the opacities in the lung. The doctors were sure he had pneumonia but he didn’t respond to most therapies. Furthermore, he’s a young guy, he shouldn’t have a recurrent pneumonia presentation like this. Enter our infectious disease doctor. He decides this guy needs a bronch. We are done guessing, he wants to get a bronchial sample so we can figure out what is going on. They began testing the sample for what type of pneumonia it was and it came back as PJP. He immediately asked for the patient to be tested for HIV. The resident nor I really understood why. Of course, I had to ask. His response? “When I see PJP I think HIV.” I asked him what he meant by that. That’s when he began to tell me about the fungal infection and its relation to immunosuppressed patients. In his words, “you just don’t really see it in people with a healthy immune system. Our guy wasn’t a transplant patient. He wasn’t on chemotherapy. So, what other reason would a man his age possibly be immunosuppressed?”  Turns out, he was HIV positive and did not know. His CD4 count was terribly low. I witnessed this man’s life change in the blink of an eye. He didn’t take the news well, but I couldn’t blame him. That was not the last time I saw him. He was in and out of our unit with pneumonia or thrush. He wasn’t really compliant with his meds. No one in his family knew what was going on with him. He wouldn’t allow visitors while he was in the hospital and would sit in his room all alone. It was heartbreaking. Then he stopped coming into the hospital. I held out hope that he had finally started taking his meds and got better. Deep down, I knew that wasn’t the case. Turns out he did come back into the hospital, just not to our unit. This time he was intubated in the ICU. He didn’t make it. He was just too sick and had been sick for far too long. Because of him, because of his case, I will forever remember an obscure pneumonia that I haven’t treated since.

So, I thought I would share a little bit of obscure information because… well… why not?

Are there any cases that stand out to you? Leave a comment and let me know.

So many diseases!

I had no idea there were so many diseases until I became a STICU/transplant nurse. Our unit takes care of surgical and trauma patients of all different types (except cardiac, we have dedicated units for that). While trauma is not easy, it can sometimes be a little more straightforward. Most of the time, if it’s bleeding make it stop. If it’s broken, fix it. Every trauma case is different of course but the path you take is typically easier to identify.

Surgical cases are a whole different story. I have come across so many different diagnoses that I have never even heard of. My first time hearing about Budd-Chiari syndrome was with a liver transplant patient we just treated. I have had to spend so much time looking up things on the internet trying to figure out why my patient has 70cm of small bowel left. I have learned about spinal disorders, blood disorders, neurologic disorders. I spend a lot of time asking our specialties to explain this diagnosis or that surgical procedure.

I love it!

Granted, I can’t tell you half of what the hell was explained to me. I can’t remember a majority of the diseases I have looked up. I have “nurse brain”. I know it for as long as I need to know it and then I purge it with alcohol to make way for the next round of sh*t I need to know. No shame. I plan on doing what I see some of our med students and residents do. I am going to get me a small notebook that I can leave in my locker at work and document the diseases that I come across. I haven’t decided if I am going to just list the name of the diseases or try and include a description with each so I can look back through the notebook and learn. It’ll probably be the latter.

Hopefully, I can start sharing some of these diagnoses and diseases with you all.