12. The Spots
‘Good morning, Ms. Potz. I am Lisa Diaz, I’ll be your doctor now. Are you feeling better?’
‘Oh so much better now. And please, I’m Lori. I just hope this time it doesn’t come back again.’
‘What do you mean, Lori?’
She began telling me her story. It started when she was 10 years old, her mother would repeatedly take her to the doctor since she was always looking pale, and indeed, the doctor told them Lori had a chronic anemia of unknown origin.
‘But that alone wasn’t so bad.’ she continued. ‘I sometimes felt more tired than other kids but nothing too limiting. The problem was when the pain started.’
Then she told me that after she turned 16 years old, she began having episodes of acute abdominal pain along with blood in stool.
‘They requested a colonoscopy that showed polyps in my intestines, and told me it was something to be managed in a conservative way.’
I was impressed by how much she knew of her condition. I mean, of what there was to know anyway. She was super self-aware and almost had a ready report of everything she had been through. That made me think of how many times she had to tell that story.
‘And these episodes kept happening?’
‘Yes. It’s weird to say it, but eventually I kind of got used to them. I stopped coming to the ER because there was really nothing to be done. So I just stayed home and got through it. My mom helps me a lot when they happen.’
‘I see. About that, is someone coming to stay with you? You must imagine that, but you are probably going to stay here today, Lori.’
‘I know.’ She smiled sadly. ‘Mom was with me here, she just went home to grab some stuff.’
‘Well, good. Then tell me, what happened this time?’
‘This time the pain was just unbearable. Worse than all the previous times. That’s why I came.’
I continued to ask her about her health issues. That episode was also accompanied by intense hematochezia, and no other symptoms. There was nothing else of note in her past medical history. Her parents were healthy, although she had an older brother she didn’t meet, who died when she was little.
‘I was 2 years old. Brian was 6. I don’t really remember what happened.’
‘That’s okay. I am sorry to hear that.’ She nodded in response.
On her physical exam, she seemed pale, which was expected due to her chronic loss of blood. She had some spots that looked like little freckles on her lips and near her mouth. Other than that, she was just a 20 year old with nothing else altered. I told Lori I would be back in the afternoon so we could discuss our next steps.
I checked on my other patients and went to the cafeteria. Jax and I had now set a fixed weekday for our morning encounter. Every Tuesday that is. Why Tuesday you ask? We actually flipped a coin for it. I wanted Wednesday since it was exactly in the middle of the week, but Jax knew it was just because I’m a control freak. So he picked Tuesday just to tease and beat me on the coin flip.
When I got there, Peter and Jax were sitting at the same table chatting. Peter was now frequently joining us since Jax and he bonded that day in the cafeteria.
After we chatted a bit, Peter and I left for our rounds. On my turn, I presented Lori Potz’s case and told Dr. Collins I thought our next step should be an endoscopy and colonoscopy, so we could see what we were dealing with.
‘I agree, Lisa.’ She was frowning. ‘We need to see what’s there and, if possible, biopsy it. If you can, please try to speed up at least the colonoscopy. This girl needs answers.’
‘Okay, I’ll try.’
‘And one more thing. If you see the mother when you get back, ask her about Lori’s brother. Maybe that can help us.’
‘Noted.’
After we were done I went to find a way for Lori’s exams to be performed soon. The colonoscopy was scheduled for the next morning. I walked back to room 10 so I could talk to her about the procedures we would like to do.
From the door, I could see a woman sitting on Lori’s bed, trying to make her laugh. I stepped in and presented myself again.
‘Oh, hi Dr. Diaz! I am Rose, Lori’s mom.’ She was sincerely smiling.
I smiled back ‘It’s nice to meet you.’
I explained the exams we wanted to do and why. I answered their questions and they agreed to go through with them.
‘Now, one more thing, Mrs. Potz.’ I turned to Rose. ‘Lori told me about her brother. I am sorry for your loss.’
‘Thank you, Lisa.’
‘Could you tell me what happened to him?’
‘Brian started feeling sick suddenly, we took him to the hospital and he was gone so fast. I don’t remember all of it, I think my mind deleted a lot about that day. But I do recall the doctors telling me it was a bowel obstruction.’ She was holding her daughter’s hand firmly.
‘Thank you.’
What she told me about her son did seem helpful. But I have to say that while I was leaving the room I was thinking of something else. When Rose was telling me Brian’s story I couldn't help but notice she had that ‘freckling’ on her lips, just like Lori. Was it related?
I went to the computers to search for it. Whatever it was, it seemed inheritable in an autosomal dominant way. The mother didn’t have abdominal symptoms, but the brother apparently did. So I had polyps and I had these spots, that maybe weren’t freckles after all. They were bluish and brownish spots especially concentrated on the lips.
I literally searched for ‘polyps and blue spots on the lips’ and there it was: Peutz-Jeghers Syndrome. The spots were melanin spots, common in this syndrome. It was indeed autosomal dominant and with variable manifestation. So some may present with melanic pigmentation only, like Lori’s mom, while others may also show hamartomatous polyps, like Lori herself.
In the next morning, 5 polyps were found and resected during the colonoscopy. Later that week, the biopsy results confirmed that the polyps were hamartomatous. Her struggle wasn’t over of course, but Lori and Rose were happy to finally name their fight.
...
Want to know more about Peutz-Jeghers Syndrome?
Want to read a real case of Peutz-Jeghers Syndrome?
https://www.scielo.br/pdf/jcol/v32n1/11.pdf
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