Ask general internists what they love about their field, and they are likely to talk about long-term relationships with patients and the pleasure of solving clinical puzzles.
It’s always good for both the patient and the doctor to get a nice win like that. So kudos!
At the same time, I’ll submit the scope of diagnostic struggles and prolonged suffering attributable to poor medical processes on the diagnostic front is far too high and too little appreciated. Mathematically, both GAO and NORD have the range of rare diseases running at somewhere between 5-9% if memory serves, with 70-80% genetically-rooted.
Using 7% as a rough est. that means about 5-6% of every PCP’s patient base should have a genetic rare disease and, in a well-functioning system most if not all would also be diagnosed. I’ve asked a lot of docs and I”ve never heard any say anything close re their own patient base. Apparently, they all practice in Lake Wobegon.
Processes are almost universally poor for reconciling contradictory medical opinions, working through difficult differentials (like the over 60 causes for protein-losing enteropathy), routing people to the places with the right skill levels, and addressing the role of questionable categories like “medically unexplained symptoms” (too often ending in death or permanent loss from “reasonably detectable” causes like cancer. A profession that drove Semmelweiss to the madhouse and forced the doc who ID’d h. pylori as the central cause of ulcers to experiment on himself might have room for greater epistemic humility. Maybe.
At one of the top hospital systems in the country, I was told by someone in their IM specialty group that 80% of the hard to diagnose leave no closer to resolution.
Lisa Sander’s Netflix show has a great and terrible example of a young nurse with an undiagnosed genetic problem for Almost a decade even though her urine after physical activity was coffee-colored. She ended up having to go to Italy to get the genetic testing establishing an in-born error of metabolism.
In a country like the US where just 5% of the population accounts for 50% of the medical spend that’s a problem for society. But is also a huge weight on the let’s say 10-plus million still undiagnosed (or wrongly diagnosed as well as their families. There’s realistically no medical infrastructure for that group, and precious little for cancer patients and survivors or those with multiple chronic problems (putting to one side those who fall in all three groups).
Throw in common but often untreated maladies like iron deficiency and I suspect the room for both incremental and systemic improvement is far greater than it should be given the tools available. Again, maybe.
I have to agree, another great post, and timely. We have evolved(medicine) from HISTORY guiding the rest of the investigation to the history is key words, often passed on in copy and paste medical records, needed to justify an expensive diagnostic study that is supposed to give the answer. I have quoted often one of my favorite medical school profs who happenned to be IM, Infectious disease "If I have to get the diagnosis with only one of the modalities, History, PE, laboratory/ancillary tests, I'll take the history any time!"
Related to the satisfaction of no answer/DX: In my business I try to impress upon my trainees: Our first goal is to determine if there is a life,limb or functional danger in the condition we are attempting to diagnose( spinal pain); When a pain is determined to be benign(not dangerous), the patient should be empowered to consider no treatment as an option. When we treat benign conditions with surgery that has potential risks, those risks are not necessary. In my department the metrics of the business model suggest that: CC: hurt my back should see surgical specialists within 7 days!!.. ....Ridiculous in my view.
Another fantastic post. I do think a complementary post to this one though should explore the benefits of being comfortable with an answer not being found. I think there is a pervasive belief that modern medicine should be able to find the exact cause for all symptoms. Sometimes it’s only with time that the answer reveals itself and sometimes it never does. The discomfort with not knowing (despite a thorough and thoughtful work up) often leads people to a let’s be generous, fringe physician. This person is all to happy to give a definitive diagnosis du jour - yeast allergy, mercury poisoning from amalgam etc and propose an expensive yet useless “cure “. What to do in these cases though are what I struggle with most.
The thing I have noticed (and have gotten better about detecting now nearer the end of my career than the beginning) is how frequently the "mind body syndrome" plays a role in a wide variety of symptoms. I find it fascinating, that after the initial evaluation (and some follow up) is done, that it becomes quite easy to see where the patient's thought process is leading to their symptoms. When you've spent a lifetime listening to humans tell you about bodily things, you have a broad array of the typical and you can spot the less helpful thought processes. The issue I have with this problem: it takes TIME to determine and time to gently help the patient gain insight and tools to manage. For the amount that I see in my practice, it makes me realize that a significant portion of health care dollars are spent running down issues related to MBS or other similar problems (medical PTSD; adjustment disorder; etc). Current health care is doing its part to drive this problem as the 15 minute visit along with the plethora of tests we have at our disposal, just masks this problem and fuels its fire. The other issue is the underlying movement towards AI and "chatbots" getting highly involved in medical care will not help this problem either. Human beings are not soothed or reassured by algorithms - human connection and really listening are the cure.
In a busy outpatient setting it is difficult to allot the time needed for a complex patient such as the one described. I would focus on the history and physical and tell the patient I want to review her records carefully at the end of the day and get back to her with the next step. Inpatient medicine is much easier in a teaching hospital in that even with multiple admissions one can still find the time to do a complete evaluation of the patient and then have the benefit of presenting the case to the team the next morning. But with an outpatient even with complex problems, there is time to carefully review outside records and look up literature at the end of the clinic day. Just have to be prepared to put in some effort outside of the allotted clinic time.
My department chairman during my internal medicine training was a fabulous internist. Two of his aphorisms pertaining to cases like these remain with me:
1) (predates Donald Rumsfeld) “The uncommon presentations of common diseases are more common than the common presentations of uncommon diseases.”
2) “As an internist you are allowed one diagnosis for patients under 50, and one additional diagnosis for each decade thereafter .”
Interesting that at the outset you didn't mention the medicines (if any) she was taking. THAT is the first place I would go.. then on reading you say " together with the adverse effects of medications that had been added over months to control her symptoms, and an adjustment disorder, a reaction to her year of lost function."
One sibling in particular (on TPN) has numerous issues and doctors kept trying things for other issues he had until the day he asked "how do all these medicines contraindicate?" Well of course no one knew because there are never studies/research done on people taking MULTIPLE drugs, are there Doc?
We have a friend of ours with a similar story. He had some terrible and completely enigmatic disease that he saw all the country best docs and diagnosticians. They each would come to their own diagnosis and prescribe treatment to no real avail. This continued for years. He was really at the very edge of death and had pretty much given up all hope and resigned himself to dying when a doctor finally diagnosed him correctly. It was something simple but extremely rare. (I wish I could remember the diagnosis) but by that time, his overall health had been ravaged by all the multitude of treatments and prescriptions used to chase symptoms under false diagnosis for years. He has his disease in remission, but is left disabled from prior treatments. It's so sad.
Great article, as always. Feeling faint and smelling a particular soap was one of my husband’s first signs of GBM. Horrible disease. Unsure if that’s a common symptom; but definitely a strong one for him.
Her symptoms were explained by a disease — seronegative rheumatoid arthritis — together with the adverse effects of medications that had been added over months to control her symptoms, and an adjustment disorder, a reaction to her year of lost function.
Two immediate thoughts: patients often give us much help if we ask what they think is the diagnosis ( treatment-wise as well they often know what worked in past);
“I rarely order tests on the first visit”: sage advice that I often impart to my residents while precepting.
I'm a primary care internist, too. I'm impressed and enjoyed the article which was much more than listening to you congratulate yourself!
I could not agree more about asking the patient what they think is causing the symptoms. Another reason to ask that is that sometimes the symptoms become quite bearable if you tell them it's not elbow cancer or whatever their worst fear was.
Years ago I presented with abdominal pain which I thought might be gall bladder related. After ultrasounds and other tests the doctors noticed a problem with my kidneys ("dark spot", gall bladder was OK). Discovered I had a renal artery stenosis. Had a angioplasty to widen the artery to kidney. It is unknown how many years I had this, because my high blood pressure may or may not have been caused by this stenosis. My kidney specialist was able to give a presentation to his colleagues because this type of stenosis had never been discovered this way before. I never had any more kidney problems but this doctor kept mentioning this episode to my internist, even years later.
One of the major reasons that pathologists seem so happy all the time (at least on Dr Glaucomflecken) is the diagnostic puzzles. Figuring something out, especially when your colleagues didn’t know what it was, provides great satisfaction.
It’s always good for both the patient and the doctor to get a nice win like that. So kudos!
At the same time, I’ll submit the scope of diagnostic struggles and prolonged suffering attributable to poor medical processes on the diagnostic front is far too high and too little appreciated. Mathematically, both GAO and NORD have the range of rare diseases running at somewhere between 5-9% if memory serves, with 70-80% genetically-rooted.
Using 7% as a rough est. that means about 5-6% of every PCP’s patient base should have a genetic rare disease and, in a well-functioning system most if not all would also be diagnosed. I’ve asked a lot of docs and I”ve never heard any say anything close re their own patient base. Apparently, they all practice in Lake Wobegon.
Processes are almost universally poor for reconciling contradictory medical opinions, working through difficult differentials (like the over 60 causes for protein-losing enteropathy), routing people to the places with the right skill levels, and addressing the role of questionable categories like “medically unexplained symptoms” (too often ending in death or permanent loss from “reasonably detectable” causes like cancer. A profession that drove Semmelweiss to the madhouse and forced the doc who ID’d h. pylori as the central cause of ulcers to experiment on himself might have room for greater epistemic humility. Maybe.
At one of the top hospital systems in the country, I was told by someone in their IM specialty group that 80% of the hard to diagnose leave no closer to resolution.
Lisa Sander’s Netflix show has a great and terrible example of a young nurse with an undiagnosed genetic problem for Almost a decade even though her urine after physical activity was coffee-colored. She ended up having to go to Italy to get the genetic testing establishing an in-born error of metabolism.
In a country like the US where just 5% of the population accounts for 50% of the medical spend that’s a problem for society. But is also a huge weight on the let’s say 10-plus million still undiagnosed (or wrongly diagnosed as well as their families. There’s realistically no medical infrastructure for that group, and precious little for cancer patients and survivors or those with multiple chronic problems (putting to one side those who fall in all three groups).
Throw in common but often untreated maladies like iron deficiency and I suspect the room for both incremental and systemic improvement is far greater than it should be given the tools available. Again, maybe.
I have to agree, another great post, and timely. We have evolved(medicine) from HISTORY guiding the rest of the investigation to the history is key words, often passed on in copy and paste medical records, needed to justify an expensive diagnostic study that is supposed to give the answer. I have quoted often one of my favorite medical school profs who happenned to be IM, Infectious disease "If I have to get the diagnosis with only one of the modalities, History, PE, laboratory/ancillary tests, I'll take the history any time!"
Related to the satisfaction of no answer/DX: In my business I try to impress upon my trainees: Our first goal is to determine if there is a life,limb or functional danger in the condition we are attempting to diagnose( spinal pain); When a pain is determined to be benign(not dangerous), the patient should be empowered to consider no treatment as an option. When we treat benign conditions with surgery that has potential risks, those risks are not necessary. In my department the metrics of the business model suggest that: CC: hurt my back should see surgical specialists within 7 days!!.. ....Ridiculous in my view.
Was it the timing of the episodes that cued you in it was seizure?
What if the episodes had been happening every two to three weeks or so?
Another fantastic post. I do think a complementary post to this one though should explore the benefits of being comfortable with an answer not being found. I think there is a pervasive belief that modern medicine should be able to find the exact cause for all symptoms. Sometimes it’s only with time that the answer reveals itself and sometimes it never does. The discomfort with not knowing (despite a thorough and thoughtful work up) often leads people to a let’s be generous, fringe physician. This person is all to happy to give a definitive diagnosis du jour - yeast allergy, mercury poisoning from amalgam etc and propose an expensive yet useless “cure “. What to do in these cases though are what I struggle with most.
I'm actually in the middle of a post on how traditional medicine creates the need to alternative medicine!
The thing I have noticed (and have gotten better about detecting now nearer the end of my career than the beginning) is how frequently the "mind body syndrome" plays a role in a wide variety of symptoms. I find it fascinating, that after the initial evaluation (and some follow up) is done, that it becomes quite easy to see where the patient's thought process is leading to their symptoms. When you've spent a lifetime listening to humans tell you about bodily things, you have a broad array of the typical and you can spot the less helpful thought processes. The issue I have with this problem: it takes TIME to determine and time to gently help the patient gain insight and tools to manage. For the amount that I see in my practice, it makes me realize that a significant portion of health care dollars are spent running down issues related to MBS or other similar problems (medical PTSD; adjustment disorder; etc). Current health care is doing its part to drive this problem as the 15 minute visit along with the plethora of tests we have at our disposal, just masks this problem and fuels its fire. The other issue is the underlying movement towards AI and "chatbots" getting highly involved in medical care will not help this problem either. Human beings are not soothed or reassured by algorithms - human connection and really listening are the cure.
Such a good comment. Thanks.
In a busy outpatient setting it is difficult to allot the time needed for a complex patient such as the one described. I would focus on the history and physical and tell the patient I want to review her records carefully at the end of the day and get back to her with the next step. Inpatient medicine is much easier in a teaching hospital in that even with multiple admissions one can still find the time to do a complete evaluation of the patient and then have the benefit of presenting the case to the team the next morning. But with an outpatient even with complex problems, there is time to carefully review outside records and look up literature at the end of the clinic day. Just have to be prepared to put in some effort outside of the allotted clinic time.
My department chairman during my internal medicine training was a fabulous internist. Two of his aphorisms pertaining to cases like these remain with me:
1) (predates Donald Rumsfeld) “The uncommon presentations of common diseases are more common than the common presentations of uncommon diseases.”
2) “As an internist you are allowed one diagnosis for patients under 50, and one additional diagnosis for each decade thereafter .”
Interesting that at the outset you didn't mention the medicines (if any) she was taking. THAT is the first place I would go.. then on reading you say " together with the adverse effects of medications that had been added over months to control her symptoms, and an adjustment disorder, a reaction to her year of lost function."
One sibling in particular (on TPN) has numerous issues and doctors kept trying things for other issues he had until the day he asked "how do all these medicines contraindicate?" Well of course no one knew because there are never studies/research done on people taking MULTIPLE drugs, are there Doc?
We have a friend of ours with a similar story. He had some terrible and completely enigmatic disease that he saw all the country best docs and diagnosticians. They each would come to their own diagnosis and prescribe treatment to no real avail. This continued for years. He was really at the very edge of death and had pretty much given up all hope and resigned himself to dying when a doctor finally diagnosed him correctly. It was something simple but extremely rare. (I wish I could remember the diagnosis) but by that time, his overall health had been ravaged by all the multitude of treatments and prescriptions used to chase symptoms under false diagnosis for years. He has his disease in remission, but is left disabled from prior treatments. It's so sad.
Great article, as always. Feeling faint and smelling a particular soap was one of my husband’s first signs of GBM. Horrible disease. Unsure if that’s a common symptom; but definitely a strong one for him.
So what was the diagnosis??
Her symptoms were explained by a disease — seronegative rheumatoid arthritis — together with the adverse effects of medications that had been added over months to control her symptoms, and an adjustment disorder, a reaction to her year of lost function.
Two immediate thoughts: patients often give us much help if we ask what they think is the diagnosis ( treatment-wise as well they often know what worked in past);
“I rarely order tests on the first visit”: sage advice that I often impart to my residents while precepting.
I'm a primary care internist, too. I'm impressed and enjoyed the article which was much more than listening to you congratulate yourself!
I could not agree more about asking the patient what they think is causing the symptoms. Another reason to ask that is that sometimes the symptoms become quite bearable if you tell them it's not elbow cancer or whatever their worst fear was.
Don't forget to ask the patient with a positive review of symptoms if his/her teeth itch.
Retro-orbital micturalgia. "I have burning behind my eyes when I pee."
Years ago I presented with abdominal pain which I thought might be gall bladder related. After ultrasounds and other tests the doctors noticed a problem with my kidneys ("dark spot", gall bladder was OK). Discovered I had a renal artery stenosis. Had a angioplasty to widen the artery to kidney. It is unknown how many years I had this, because my high blood pressure may or may not have been caused by this stenosis. My kidney specialist was able to give a presentation to his colleagues because this type of stenosis had never been discovered this way before. I never had any more kidney problems but this doctor kept mentioning this episode to my internist, even years later.
One of the major reasons that pathologists seem so happy all the time (at least on Dr Glaucomflecken) is the diagnostic puzzles. Figuring something out, especially when your colleagues didn’t know what it was, provides great satisfaction.