I had a great case yesterday at work. Not great for the patient, but great for the physicians, in that the illness he suffered from is very rare and hardly ever diagnosed in the ED.
I was working a typical shift in yellow pod, one of our stretcher areas where we see sicker patients. Suddenly I heard “any doctor stat to resus!” and I took off running to our resuscitation area. I almost never run in the ED; it goes against all I was taught in my training. I walk, rapidly. But yesterday – I ran. When I got to the room, an young man with tousled, jet-black hair was lying semi-conscious in the stretcher, with a flurry of activity around him. His mother stood, lost, by the side of the bed. The triage nurse was on his way out of the room after handing over to the resus nurses, and took a minute to tell me that he had transferred the patient from the ambulatory waiting room after he lost consciousness and was snoring in a chair. His mother told me, via a Russian translator, that her son had come to the hospital for an annoying spot he couldn’t get rid of on his foot. I had a quick look – it was actually a wart, had been there for a month, and was not anything concerning.
I turned to the patient, registering his vital signs (normal) and his general status (semi-conscious, clearly confused, eyes open, breathing easily). I did a quick physical exam (normal heart and lung sounds, non-tender abdomen, moving all his extremities) and a colleague performed a bedside ultrasound. We noted some fluid around his heart, called a pericardial effusion. Otherwise, all was normal.
At this point, I suspected the patient had a seizure and not simply a syncope (fainting episode), but I needed to figure out exactly what had happened and why. I called for a nurse to check his blood sugar, because hypoglycemia (low blood sugar) can cause seizures. It was normal, even on the high side. I asked for an ECG (electrocardiogram) which showed slight abnormality but nothing concerning.
Given the fluid around his heart and the loss of consciousness, I knew I had to rule out an aortic dissection – when the largest blood vessel in the body tears and bleeds. This diagnosis can be rapidly fatal, and quick diagnosis is vital to expedite treatment (often operative). I sent him for a stat CT scan of his chest and abdomen. The scan ended up being normal.
At this point the results of some blood tests began coming out. I noted that his platelets, the part of blood that causes clotting, were at 2. That’s incredibly low, which struck me especially since he was a healthy young man with no past medical history. I ordered platelet transfusions to avoid major bleeding, and I thought to myself, OK, maybe he is bleeding in his brain since the platelets are so low. The patient’s mother had told me he was an athlete, so a minor head injury was certainly in the realm of possibility. Any slight hit to the brain with such low platelets could cause bleeding. So I sent him for a stat CT of his head; this, again, was normal. Thankfully.
But I still didn’t have an explanation for his seizure, or for the low platelets. Things weren’t making sense yet. Without a diagnosis, I couldn’t start a targeted treatment. Without knowing a cause for his illness, I was left doing supportive care while the investigations were pending. This often happens in the ED, but it’s frustrating when I want answers NOW.
Reviewing more blood tests I noted that my patient’s kidney function was abnormal, and had been normal on routine bloods done by his family doctor a few weeks prior. His liver function was also abnormal, from normal previously. He had anemia, a bit worse than previous. His heart enzymes, troponin, were elevated.
I looked in on him a few times in the middle of all this, and he continued to appear confused and sleepy – consistent with a post-ictal state (after a seizure).
I sat down at my desk and tried to piece together the puzzle in front of me. I realized that perhaps he was hemolyzing – breaking down blood cells – and ordered some more blood tests to verify this theory. I paged the hematologist, as well as the cardiologist given his cardiac abnormalities. But I thought to myself, there has to be a unifying diagnosis here. In Emergency Medicine, one of the tenets we learn and teach our learners is that patients present for, usually, ONE major issue. There is usually ONE diagnosis that pulls all the pieces together, and it is our job to figure this out. I thought to myself – ITP? Covid? Sepsis? (all dangerous and possible diagnoses).
I was about to open my second brain – UpToDate, an amazing online resource for physicians – when I noticed one of my senior colleagues had just sat down next to me. I turned to him and said, can you help me figure this out? I presented the case to him, and immediately he said “TTP!”. Ding ding ding went my brain. YES! This was the exact unifying diagnosis – and an often fatal one.
TTP is an acronym for “thrombotic thrombocytopenic purpura” – a long name for a disease that causes exactly my patient’s constellation of symptoms. The diagnostic criteria are made up of a pentad of abnormalities: neurologic (confusion, seizures), renal compromise, anemia (a specific form of it, demonstrated by finding, under the microscope, fragments of red blood cells called schistocytes), thrombocytopenia (low platelets) and fever. There is often also a classic rash called purpura, or purplish discolourations that don’t blanch (lose colour) when you push on the skin. My patient was only missing the fever and the rash. Otherwise – he had it all. And the seizure he had made it so that she was suffering from severe TTP.
I knew we had to act fast. TTP has a fatality rate of 90% if left untreated; with plasmapheresis (plasma exchange, where the blood is filtered and exchanged for healthy cells), the fatality rate drops to 10-20%.
I canceled the platelets. There would be no point in transfusing them, because in TTP the body consumes these like a hungry monster, causing clotting in small blood vessels.
I called the hematologist and told her my concerns. She wasn’t sure, but agreed to come quickly.
I called the ICU physician who also came immediately.
I thanked my colleague profusely, for his incredible recall of such a rare disease.
Suddenly I heard, again, “Dr. Ahronheim stat to resus!” and again I took off running. I came in to see him having had another seizure. Thankfully, the ICU doc as well as the hematologist were already there, and they both agreed with the diagnosis of TTP. They had already sent an assay for a specific enzyme called ADAMTS13, which, when low, helps confirm the diagnosis.
The ICU doc set up to put in a central line, meaning a large intravenous in the internal jugular vein of the neck – this is needed in order to perform the lifesaving therapy of plasmapheresis. It’s also very dangerous in this kind of case, because low platelets means the patient is at significant risk of bleeding. I asked the nurses and respiratory therapist to be mindful of whether he started having a hematoma (collection of blood) in the neck, because that would make me intubate him immediately to protect his airway. Thankfully, the line was inserted without complications and very quickly the patient began his treatment.
Later in the shift, as I was finishing up my work, I got a phone call from the lab – the ADAMTS13 enzyme came back at ZERO. That’s crazy, and clearly confirmed TTP in this patient.
I went back in the room prior to leaving, to wish the family my best. I hope the patient will recover – we certainly gave him the best chance possible. It blows my mind that he came to the emergency department healthy, for a wart of all things, and ended up in the ICU. He is incredibly fortunate that his illness presented in the ED, and that thankfully the diagnosis was made rapidly. What if he had had this seizure in bed at home, and had presented to a hospital only many hours later? He was already in the severe category of illness by the time he ended up in the resus room – what if things had taken longer? What if he had come alone, and no one had noticed him unconscious in the waiting room – he was snoring, could have just been asleep! I spoke to the triage nurse afterwards and thanked him for picking up on this so quickly, transferring the patient to resus immediately. All told, the time from triage to diagnosis was less than 2 hours. Incredible.
I am proud to work in such a great ED, with colleagues who teach as much as they work, and that I can count on those around me to help me save lives every day.
My Black Scrubs 