Internal medicine and rheumatology specialist Siobhan Deshauer, MD, reviews the case study of a pregnant woman who was hospitalized.
Following is a partial transcript of the video (note that errors are possible):
Deshauer: Hey, guys. I'm Siobhan, an internal medicine and rheumatology specialist. Today, I'm going to tell you about Emma. She is a 31-year-old woman who landed her dream job, first violinist in a prestigious orchestra, and she has never had any health issues until recently.
Emma and her husband have been struggling to get pregnant over the past 2 years and she is now seeing a fertility specialist. Anxious to find a treatment that would work for her, Emma also started seeing another health practitioner who recommended various supplements that she was told were safe and effective. Unfortunately, she has been hiding this from her doctor and little did she know that decision would land her in the hospital and change the next few years of her life.
Over the past few weeks, Emma has had abdominal pain, nausea, and vomiting. She had a glimmer of hope thinking she might be pregnant, but the tests kept coming back negative. Her symptoms just kept getting worse and it was starting to affect her ability to perform at the orchestra. She was sure that her colleagues were starting to notice. After one particularly poor performance, she decided to go to the doctor. Her doctor checked her vitals, ordered some blood work, along with an abdominal ultrasound. Everything looked fine, so her doctor thought it might just be stress from the new job, but the pain and nausea worsened to the point that she was barely able to eat anything.
Finally, after a horrible episode of vomiting, her husband brought her to the emergency department. Her blood work showed mild anemia. Her red blood cells were a bit too low. After her vitals were normal and her imaging was normal, she was sent home with an iron supplement and told to follow up with her family doctor in about 2 weeks.
Over the next few days, her symptoms just continued to progress. She had to call in sick from work and was spending most of the day in bed exhausted and in pain. But Emma didn't want to go back to the hospital, wait for hours, and then just get sent home again. Then one day she was getting out of bed, she became so dizzy that she fell to the ground on her knees. Her husband heard the sound, ran upstairs and found her on the ground. That was it. They were heading back to the hospital.
In the emergency department, her heart rate was a little bit fast, but it was her blood work that was alarming. Emma's hemoglobin was much lower than before, so low that she required a blood transfusion. Emma was actually relieved to hear that they had found something to explain her symptoms, but the question remains why was her hemoglobin dropping so dramatically? The emergency doctor explained that she might be bleeding from her stomach. That would explain her abdominal pain and the drop in her hemoglobin. The plan this time was to admit her to hospital.
A few hours later, a tired-looking internal medicine resident came to assess Emma. When asked about medications, Emma responded that she is taking levothyroxine, a thyroid supplement, and follitropin alfa injections for infertility. When asked about supplements, she only mentioned her prenatal vitamins.
Now, remember Emma is also taking supplements for infertility, but she didn't want to tell the doctor because she was worried about being judged and she couldn't imagine that it was relevant in this situation. Emma's blood tests not only showed that she was anemic with too few red blood cells, but that the cells were too small. We call this microcytic anemia. In situations like this, her bone marrow should be going into overdrive, pumping out as many new red blood cells as possible, but another test called the reticulocyte count proved that this wasn't the case for Emma.
When I see a patient like this with microcytic anemia, a whole bunch of causes come to mind. But by far, the most common cause is iron deficiency, especially in a young woman. Think about iron deficiency like this: either you're not eating enough iron, your body is not absorbing that iron, or you're bleeding and then losing the iron.
Emma's blood work is consistent with iron deficiency with a ferritin level lower than expected. This suggests that she has a low amount of iron stored away in her body and maybe the bone marrow wasn't creating enough red blood cells because it didn't have enough iron available. But iron deficiency itself doesn't cause abdominal pain, so her doctors wondered if she might be bleeding somewhere in her abdomen, maybe a bleeding peptic ulcer.
In the emergency department, Emma already had a CT scan of her abdomen and an ultrasound, both of which were normal. You may be surprised to learn that often a CT scan or an MRI won't actually find the cause of a GI bleed. Often the bleeding is coming from an erosion in the protective layer of the gut and you really need to camera down the GI tract to be able to see that.
The next day she was wheeled down to the endoscopy suite and sedated. First, a camera was inserted into her throat, no signs of bleeding. Then she had a colonoscopy and again totally normal. Okay, so no bleeding in the GI tract where we can see.
Another thing we have to consider in a woman who is having abdominal pain and unexplained anemia is endometriosis, which is a disease where tissue similar to the lining of the uterus grows elsewhere in the body. Just like the uterus does, the tissue thickens up, breaks down and then bleeds with each menstrual cycle. This could be a hidden source of blood loss. It can also cause severe pain, especially in the pelvis, and it can also cause infertility. This could actually tie together all of Emma's symptoms including her recent diagnosis of infertility. Endometriosis is notoriously difficult to diagnose and it can be missed on imaging, which is why surgery is often needed to help make the diagnosis. Emma agreed to go ahead with the exploratory laparoscopy and a few days later she was taken to the operating room.
She was put under general anesthetic and the surgeons got to work. They poked small holes in her abdomen and inserted a small tube with a light and camera attached. They also insert another tube that pumps air into the abdomen. This raises up the abdominal wall so it's possible to look around at the organs and then operate if necessary.
The surgeon carefully examined each of Emma's organs, looking for any signs of endometriosis, which would look something like this. But they only found one abnormality, a simple cyst on her ovary, far from a slam-dunk diagnosis and probably unrelated to her symptoms. But nonetheless, the surgeons took a biopsy of the cyst and sent it off to the pathology lab to be examined. But if it doesn't look like endometriosis, what else could it be?
Emma's medical team went back to the drawing board to rethink her case. She eats a diet containing enough iron. She has no signs of malabsorption and they couldn't find any signs of bleeding, so maybe the blood work showing iron deficiency is just a red herring and there is another cause for her anemia that hasn't been considered. Could this be a production problem, an issue stemming from the bone marrow where the red blood cells are made? Well, there is only one way to find out, going straight to the source.
Emma was prepped for a bone marrow biopsy where a needle is inserted into the bone to take a sample of the semi-solid tissue inside. Making over 500 billion blood cells per day, our bone marrow is constantly working hard to keep us alive. Now, it's a waiting game. The results from the bone marrow won't be back for a few weeks, so Emma was discharged home with a diagnosis, anemia NYD (not yet diagnosed). But on a positive note, her abdominal pain had improved and as she was leaving the hospital she was told to restart her usual home medications and to come back if things got worse. When she got home, she restarted her fertility injections and those fertility supplements again.
Emma was still really tired and soon she developed a new headache and she was never someone to get headaches. Plus, tinnitus, that high-pitched ringing in her ears that just wouldn't go away. She kept track of her symptoms until she had her follow-up appointment 2 weeks later. Hearing about her new neurological symptoms, the internal medicine team decided to expand their diagnostic search to include another rare cause, porphyria.
This is a very rare group of conditions that affects how your body makes heme, an important part of hemoglobin, and some patients experience porphyria attacks, which can include anemia, neurological symptoms, and abdominal pain. It was a stretch and they knew it. But if you never look for those rare causes, you'll never find them, so her doctors ordered a urine test to screen for the disease.
Two weeks later Emma had another follow-up appointment to go through results. She was nervous, but hopeful that she might walk away with some answers this time. First, the surgical biopsy. It was normal, no endometriosis or cancer. Good. Next, the bone marrow results. It showed some increase in iron stores, but it was otherwise normal, so again no diagnosis.
Then a result that finally gave them a lead, Emma's porphyria screening show high levels of copper porphyrin III and delta-ALA. Okay. Now, porphyria screening is a whole can of worms that we don't have time to unpack right now, but the key point is that this particular result really narrows things down to either porphyria or lead poisoning.
Emma was sent back to the lab this time to have her blood lead levels drawn. Two days later, Emma got a phone call from her doctor's office. Her blood lead levels were off the chart. Finally, she has a diagnosis. Emma is suffering with lead poisoning. This explains all of her symptoms: abdominal pain, nausea, and vomiting. These are classic, early signs of lead toxicity.
Neurological symptoms take some time to develop, which explains why her headache and tinnitus came on later. This also explains her anemia. Lead accumulates in the bone marrow, blocking certain enzymes that produce heme, an important part of hemoglobin. Less heme means smaller red blood cells and it also limits the bone marrow's ability to create more cells, ultimately causing hypoproliferative microcytic anemia.
But why did her porphyria testing come back positive? Well, as lead blocks important enzymes that produce heme, that leads to a buildup of byproducts. Think of it like the conveyor belt in the factory that's making heme is broken and as a result there is a buildup of raw materials. Those raw materials are copper porphyrin III and delta-ALA. That's why her porphyrin screening came back positive. It's so cool, right? Everything leads back to lead poisoning. Had her doctors ordered a blood lead level earlier, it would have saved Emma so many needless investigations.
Siobhan Deshauer, MD, is an internal medicine and rheumatology specialist in Toronto. Before medicine, she was a violinist, which is why her YouTube channel is called Violin MD.
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Medical Mystery Case: What Landed This Pregnant Woman in the Hospital? - Medpage Today