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Art of Diagnosis (transcript)
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((Announcer)   
Major funding for Second Opinion is provided by the Blue Cross and Blue Shield Association, an association of independent, locally operated and community-based Blue Cross and Blue Shield plans, supporting solutions that make quality, affordable health care available to all Americans.

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(Peter)
Welcome to Second Opinion, where each week our health care team solves a real medical mystery.  When we close this file in a half an hour from now, you’ll not only know the outcome of this week’s case, but you’ll be better able to take charge of your own health care and doctors will be able to listen to patients more effectively.  I’m your host, Dr. Peter Salgo and you’ve already met our special guests who are joining our primary care physician, Dr. Lou Papa.  Lou, welcome back.

(Lou)  
Thank you, Peter.  Good to see you.

(Peter)
No one else knows, other than I, this case and we’re going to get right to work.  Our story today concerns Beth.  Beth is 40 years old; she and her husband just had their first baby.  She’s always been in good health, but now she’s in her primary care physician’s office because, in the past month or so, she says she’s been ‘fatigued’.  Those are her words.   Her word is also ‘achy all over’. She has no energy and she says she’s not sleeping well.  When probed about when the symptoms really began, she says about five years ago.

(Lou)  
Five years ago?

(Peter)
With some sense of fatigue on activity and aching in her thighs.  Anything else you want to know?

(Lou)  
Hmm, so has she had any shortness of breath with it at all?

(Peter)
It doesn’t say so.  Her heart does speed up with a little activity here.  She’s lost a little weight.  She says she’s not fit.  She has headaches; she says she’s treating them with Tylenol.  And she adds she feels a bit clumsy.

(William)        
Any exposure to infectious agents?

(Peter)
Not by history, no.

(Lou)
When she says ‘achiness’, where is she saying this is exactly?  She says in her thighs but is she talking about the joints or muscles?

(Peter)
Let me review the history a little bit more.  It says in her thighs, sometimes all over her body, but mostly her thighs.

(Bilal) 
I think the symptoms of clumsiness with aching in her thighs kind of leads me to believe that it’s probably a cord problem.

(Peter)
You’re already honing in on a neurological problem.

(Bilal) 
It seems like it.

(Peter)
Let me ask you, is this fun?  Is this fun for a doctor, really?

{multiple affirmative responses}

(Peter)
This is the good stuff, right?  This is a puzzle and already you’re trying to put it together.  You’re thinking about neurological, you’re thinking about infectious disease, Lou is sitting there asking questions and Lisa, you’re sitting there drinking this all in.   Want some physical exam stuff?

(Lou)  
Absolutely.

(Peter)
Her eyes are prominent but they’re not bugging out of her head.  She doesn’t have big lymph nodes.  Her reflexes are brisk but they’re symmetric.  There’s no tenderness when you press on the muscles, and there’s no weakness to repeated muscle contraction.  There’s a big mouthful for you.   A pretty good exam.  How important in making a diagnosis is all of this?   You’ve got a history now, you’ve got a physical – where are we?

(Lou)  
Most cases, when we were in medical school, they’ll tell you that by the time you get history from the patient, before you even order a test or even lay your hands on them, you have the diagnosis probably about 90 percent of the time.

(Peter)
That’s the number I carry around.

(Lou)
So the patient’s history is very important.  And that’s not going to happen in this case so far.

(Peter)
If you’ve come down to no idea – clearly people have no idea after the history and no idea after the physical, how likely is it in your experience you’re going to come up with something?

(Lisa)  
It depends.  This history that we have now is not really adequate.  We need a much better history.

(Peter)
What would you like to know?

(Lisa)
What was the pace of the disease?  What are her other symptoms?  Has she had any fevers or chills?

(Peter)
No fevers or chills, she reports.

(Lisa)
Did she have an illness before this started?

(Peter)
She had childbirth, in the past two miscarriages; she’s had a history of elevated triglycerides.  Her blood pressure’s been borderline.  She’s on low-dose aspirin, a multi-vitamin, a beta blocker.  She’s on Co-enzyme Q10, magnesium, calcium, vitamin D – it looks like she’s been self-medicating a bit here.  Anything else you want to know?

(William)                    
Family history?

(Peter)
French Canadian from Quebec, raised on a farm.  Mother with high blood pressure; her father has hypertension.  Her mother was diagnosed with ALS and died after 15 years of suffering.

(William)        
A couple things.  French Canadian is a genetic isolate; they have their own groups of diseases.  Secondly, was she on Co-enzyme Q prescribed by a physician or did she take that on her own?

(Peter)
I don’t have that history for you.

(William)        
Because Co-enzyme Q is something that is used for mitochondrial diseases…

(Peter)
So already now from the family history, which didn’t seem that specific on paper, you’re beginning to think about a whole group of diseases that may be in isolate and more common in French Canadian people than others.

(William)        
Well, I’m also thinking that ALS may not really be ALS.  Some people call ALS when they see motor-neuron disease.  And it may not have been molecularly demonstrated that it’s one of the known causes of ALS in her case.

(Peter)
I can tell you that her labs were sent off – a CBC and ESR.  A whole alphabet – CRP, LFTs, EKG, echo, bone density was done, normal all.  Her blood glucose is 108, her triglycerides 145, cholesterol 164, HDL 46… no help there. 

(Bilal) 
I think one of my problems is we need to have focused labs.  We can cast a wide net – and that’s what we do in medicine these days.  As the patient comes in, you order LFD, RFD – what you mentioned, an alphabet soup.  The history and the physical again are going to drive us to what we are looking for.

(Lisa)  
The tests more or less gives you a ‘yes’ or ‘no’ answer, but if you don’t ask the right question, the answer is going to be useless.

(Peter)
But I gave you all the signs here; I gave you all the numbers…

(Lou)  
Lisa’s exactly right.  The vast majority of the focus on this is the one thing we don’t have and that is the actual patient here.

(Peter)
You’ve been sitting here, quietly listening to these docs grind around on this thing.  Tell me what brought you to the doctor and tell me a bit about your story.

(Whitney)      
Okay.  A few years back, I had some discomfort, some pain in the back of my head and neck.  I went to my doctor and she examined me.  She decided I needed an MRI and I needed to go to an orthopedist.  When I went to the orthopedist and he was going over the films with me, he noticed that a part of my brain went below my skull.  As he was pointing this out, I asked him, ‘Is this something I should be concerned about?’ and he said, ‘No’ and continued to treat me for what he thought was arthritis in my cervical spine.   At that point, I was sent to physical therapy and nothing at all was helping me, so I pretty much dismissed the whole thing.   Then about a year and a half ago, I was on the Internet and I was reading an article about this birth defect called a chiari malformation.  And as I’m reading this and reading the symptoms that are affiliated with this birth defect, it was everything I’d ever felt my whole life.

(Peter)
You had the dreaded Internet consult.

(Whitney)      
Yes.

(Peter)
So let’s wait for a minute and hold your story right there; we’ve got two mysteries unfolding before us.  Now Beth’s doctor, after doing the exam and reviewing all the exams, says ‘I don’t know what you’ve got.’  Beth’s private physician hears from Beth, ‘You don’t know what I’ve got?  Send me to someone who might.’  So off she goes to the OB/GYN.  Now you should know that there was some rationale for this.  She’d had a cone biopsy in the past with some question – maybe there was some pathology in her cervix that might be recurring.  Off she goes to the OB/GYN who finds – can you guess?

(Lisa)  
Nothing.

(Peter)
And she’s back in her primary care physician’s office and starting to believe that the doctor doesn’t think she’s sick.  Could all of this be in Beth’s head?

(Bilal) 
There are conditions where patients will have body symptoms – they’ll sympatisize symptoms based on a lot of different situations, but the concerning thing with her – and all of us look for red flags when it comes to that – is that she has some hard findings.  This clumsiness and confusion is concerning in this case.

(Peter)
I’ll tell you what the doctor does.  He says, ‘I’m going to give you some non-steroidal anti-inflammatories and a sleep aid to help you sleep and an anti-depressant.’  Again, the suggestion here is maybe there is a psychological component to this.  Is this going to work?

(Lisa)  
One of the ways doctors work their way through things is they start with common things.  So depression, somatic disorders, feeling psychic pain as body pain – these are extremely common symptoms. I’m not sure I would’ve rushed to that now; I would’ve asked more about depressive symptoms.

(Lou)  
And you’re also stuck in this conundrum, where you have the patient in front of you, their life is being impacted.  I think it was important, at the same time you’re trying to figure out what’s going on, to improve the quality of their life in the meantime but to keep them tethered in the sense that ‘We’re going to do this, but we’re going to continue to investigate other possibilities.’

(Peter)
One thing I haven’t heard you say – any of you – is two words:  differential diagnosis.  I can see what you’re doing, but help the audience understand this.  You haven’t set up a hierarchy of likely, unlikely, I’m going to rule this out, rule this in – help me out with that.

(Bilal) 
You can approach it two ways. You can cast a very wide net, have a long list of differentials, which I guess was the case in this instance.  A lot of tests were done.  Or you can start with a very narrow differential based on the symptoms and look at one thing at a time.  People have different kinds of approaches – both have their merits and demerits, but I think instead of reaching the diagnosis, our effort to get to the diagnosis is an important thing.

(Peter)
I want to get back to Whitney.  There you were, with maybe something from the Internet, maybe not.   A prescription of activities from your doctor who thought they might help.  Did they help?

(Whitney)      
They didn’t help at all. 

(Peter)
Not at all?

(Whitney)      
No.

(Peter)
Not what?  What happened next?

(Whitney)      
I took the information to my doctor and she then felt I needed to see a neurologist.  I went to see this neurologist and the minute I walked in his office, I did not click with this man.  I had all my information and was telling him my concerns and the whole time he shook his head.  Then he told me I sounded more like a ((migrainer)), and he told me I needed to stay off the Internet.  That was basically my last visit to see him.

(Peter)
You sound frustrated.

(Whitney)      
I was very frustrated.

(Peter)
Want to know the word Beth is using in the chart here?  Frustrated.  I’m really frustrated.  I have these complaints and these are not getting me anywhere.  Her friend recommends a good neurologist and she self-refers to him.   Why would her PCP – the primary care – hearing that she had some neurologic symptoms, not send her to a neurologist?  Why did she have to self-refer?  Is she right that her doc’s not listening, do you think?

(Lou)  
A lot of it depends on the dynamics of that day.  Unfortunately, we all have our biases, even when it comes to diagnoses.  Her doctor may have focused on that diagnosis of depression and feels that’s the diagnosis and have very little leeway in moving from that.

(Peter)
The neurologist spent an extraordinarily long time talking to her, getting her symptoms, taking her history over and over and over again.  And again she says what she thinks she said to her PCP – that she’s weak, achy all over, she has no energy, she’s not sleeping well, and she’s scared that she’s going to drop her baby because she’s feeling weak.  Does that make a difference in how you think about this diagnosis?   Remember, she said that she felt fatigued with her PCP.    There’s smoke coming out of your ears – you’re thinking hard.

(Lou)  
It makes that flag bigger.  It kind of built on the original symptoms, that this whole ‘I feel like I’m going to drop the baby’ really takes it out of that psychosomatic kind of picture.  This is real.

(Peter)
If you were her neurologist, what would you ask her next?

(Bilal) 
I think one thing that neurologists – and we as well – as we go through the symptoms, we try to localize the region.  If it’s weakness, I would ask her if it’s just in the legs, if it’s in the legs as well as the arms.  Do you feel weak in your face as well….

(Peter)
He did that, and he did something else, which in my experience good doctors do, he asked her what she thinks is wrong with her and they begin to have a give-and-take, which is what you suggested.  What does it matter at the end of the day whether she thinks something is wrong with her, doesn’t the doctor know better?  Isn’t this his or her job?

(Whitney)      
I think you know your body better than anybody and you know how you feel.  If something’s not right, you know.

(Bilal) 
Absolutely.  I think the patient’s narrative is key here.

(Peter)
So it’s back to the history.

(Lisa)  
It’s always back to the history, and you know, the patient is the expert of their own body. The doctor is the expert in different kinds of knowledge about that body, and it takes the two of them collaborating to come with the diagnosis.  It’s always the case.

(Peter)
Now, based on the conversation that the neurologist had, he does another physical exam, this time looking for stuff he got from the interview.  And this time, he finds muscle weakness – objective evidence – hyperactive tendon reflexes, and double vision when she looks to one side.  Now what’s going on?  What are you thinking?

(Bilal) 
Very interesting. It comes back to what we are saying; as you said that, we are trying to localize where this problem lies.  And if she has, as you said, double vision, I’d like to know which side.

(Peter)
Either side.  That’s what’s written in the chart.  Now, I’ve got to ask this.  She first went into see her primary physician.  He did a physical exam.  He didn’t find these findings that the neurologist did.  Was this because the PCP did a bad exam?  The neurologist was a better doctor?  Or something else was going on?

(Lisa)  
The neurologist got a better history and a history put some ideas in his mind; hypotheses which he then tested by looking for specific things in the physical exam.  Chance favors a prepared mind.

(Lou)  
And I was going to say the same thing.  You can do an exam; it’s the same thing – it’s the tool and how fine a tool you’re going to use.   It’s interesting; you spoke about this neurologist, you talked about the history and the exam – not a single test was brought up in this discussion and look at how much information was gotten just by the repeated questioning and the focus.  And not a single blood test.

(Lisa)  
And you say the history, but the history we have now is so much richer than the history we started with.  And that’s what happens when you come back again and again and again.

(Peter)
This is great stuff.  I’m going to stop for a minute because we’ve got to review what’s been going on.  Getting to a diagnosis can be a long road; the art of diagnosis is a process of understanding how an individual is affected by an illness and it begins with communication between the patient and the physician.  Doctors call it a history but it’s a two-way street.  I’ve got some more stuff for you.  Now the neurologist has a new differential diagnosis; it’s different than the primary care physician’s, because along with her symptoms she has muscle weakness, hyperactive tendon reflexes.  Now, tell me for sure, what’s wrong with Beth?  Come on, you’ve got al the data.  Don’t we know?
Lou:    
We still don’t know.

(Peter)
I’ve got to blow the whistle on you because you’ve got a job the name of which is the best job I’ve ever heard.   You’re the Director of the National Institute of Health Undiagnosed Diseases program.  Unless I’m very much mistaken, you get to solve puzzles all day.

(William)        
They are puzzles and some of them are more difficult than others, but there are an enormous number of people in the United States – and actually some of them apply from abroad – who have gone to tertiary care centers and come to us without a diagnosis.

(Peter)
And you’ve got access to everyone – you’ve got access to every place, every physician on the earth.  Do you diagnose everybody with this expertise?

(William)        
No, in fact we fail most of the time.  We would be proud of a 15 percent success rate.
(Peter)
15?  85 percent of the people you see with the entire medical brain power of the planet at your disposal and all the scanners, they leave you with no diagnosis?

(William)        
That’s right.    Of course, these are very selected patients who’ve been through all sorts of other examinations already and have failed other folks as well.  But I think this really speaks to the state of medicine in the world today.  There are a group of selected individuals who either have new diseases or ones we can’t diagnose.

(Peter)
At the end of the day, how important is it to give a patient a diagnosis?

(Lou)  
I think a diagnosis provides two things for a patient. One, in a concrete way, a diagnosis means that there’s a set of principles and approaches to a condition that they can follow and they can understand.  The other part of it is closure.  Nobody likes to have something wrong with them that they don’t know what it is.

(Peter)
What’s more important to you?  You’re the patient here – you’re not Beth, but you’re a patient who’s had a diagnostic dilemma.  What would be more important to you?  Getting the diagnosis right, or even if we didn’t have a diagnosis, getting some treatment that made you feel better?

(Whitney)      
Getting the diagnosis right would be important to me. I would rather have the problem solved than the symptoms treated.

(Peter)
Sounds like Lou is right; you had some closure.   Lisa, is that common?

(Lisa)  
I think closure is very important but a diagnosis is just a word or a series of Latin words.  You have to help them understand what it means to them.

(William)        
That’s true.  But some people will take some solace in just the words too.  And the patients reflect to us an enormous amount of frustration over the fact that they will go to a doctor’s office and immediately be disregarded because they don’t carry a diagnosis with them.  And the doctors who always want to solve something and be heroes of sorts, are very frustrated themselves and reflect this in their interaction with the patient – the same way that happened to you, Whitney.

(Lou)  
The vast majority of time this works well; there are lots of patients we take care of that there’s limited therapies, there’s even limited diagnostic abilities, but there’s that relationship that you’ll care for them – that you’re their net, that you’ll be able to help them through whatever it is.  There are lots of cases where the diagnosis changes and it gets right back to that trust.  They have that trust that you’re there and even if it’s wrong, it’s okay because you continue to work towards it.

(Peter)
Let me tell you some more.  Beth’s neurologist gave her two short trials of high-dose steroids with no change in her clinical condition.  He then, then ordered a head MRI, which was – what do you think?

(Bilal) 
There was a brain stem problem.

(Peter)
No.  A totally normal head MRI.   He sent her to physical therapy and she’s finding that her legs and arms are feeling a little less weak – her words – not better, but less bad.  Three years later – I’m going to jump forward – back in her PCP’s office, she now has bronchitis.  Her physician thinks it might be aspiration bronchitis – she has trouble swallowing.  She’s no longer frustrated though – and this is the interesting part of the chart for me.  She says she doesn’t have a diagnosis but she’s not frustrated.   Why?

(Lisa)  
Because of what Lou said.  She feels like she’s in a place with a doctor, in a good relationship with somebody who’s committed to helping her figure out all that’s going on with her.

(Peter)
I want to sum up what we’ve been discussing.   The end point of any elusive diagnosis may not necessarily be finding a name for it, but perhaps finding an effective treatment is a good thing.  Six years have gone by since her initial visit with her PCP and she’s got a diagnosis.  She’s had a muscle biopsy, I can tell you that much, and that’s where they made the diagnosis.   Anybody want to make the diagnosis here?

(William)        
I would guess she might have ragged red fiber based on her muscle biopsy.

(Lisa)  
Or muscular dystrophy.

(Bilal) 
Yes, that’s what I would say.

(Peter)
Holy smokes!  How about I read you want the muscle biopsy showed?  Somebody gets a gold star.  She has ragged red fibers.  Additional testing showed the muscle ((cox)) activity was only 30 percent of normal and her mother, who was presumed to have had ALS, was now presumed to have mitochondrial myopathy.

(William)        
So that really points out –

(Peter)
By the way, before you even say anymore, great work.  This is what docs live for – making diagnoses.

(William)        
Well, we sometimes are successful but particularly this is my area.  What this points out is there are experts in different areas, and what the world of medicine needs are people who are experts in certain rare diseases.  This is one of those examples.

(Peter)
Now you’ve got a diagnosis; can you fix Beth?

(William)        
For mitochondrial myopathies, it’s very mixed so you can’t always cure them.  But you do give a cocktail of compounds which can help.

(Peter)
She’s got a diagnosis and someone believed she was sick and came all the way to this diagnosis.  Now you, tell me what it feels like for you.  You have your diagnosis maybe, but do you still have your symptoms?

(Whitney)      
I still have the headaches, but I’ve lived with them this long.  They haven’t seemed to worsen so I’m just going to plug through.

(Bilal) 
This is interesting because I’ve had a few patients with ((Arnold Chiari)) and they’ve had some type of ((Kippel-feil)) deformity as well.  I don’t know if you have that; it’s a deformity in the cervical spine.

(Whitney)      
Well, they did tell me my vertebrae were fused.

(Bilal)
That’s probably ((Klippel-feil)); that comes along with this disorder.

(Whitney)      
Really?

(Peter)
Do you feel better now having spoken to him?

(Whitney)      
Absolutely.

(Peter)
Did you all notice it was the history, not the scan – two people talking to one another.

(Whitney)      
Wow.

(Peter)
That’s the art of diagnosis in a nutshell.

(Bilal) 
Yes.

(Peter)
I want to thank all of you for being here.  Thank you very much for coming.  I’m glad we actually helped you.  It’s not easy to talk about your disease on television but thank you so much for sharing with us.   Thank you all.  Let’s pause for a minute; I want to sum up what we discussed.  Getting to a diagnosis can be a long road.  The art of diagnosis is the process of understanding how an individual is affected by an illness.  The process begins with communication between the patient and the physician.  The end point of any elusive diagnosis may not necessarily be finding a name for it but finding an effective treatment.    And our final message is this:  Taking charge of your health means being informed and having honest communication with your doctor.  I’m Dr. Peter Salgo and I’ll see you next time, for another ‘Second Opinion’.   

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For more information on this and other health topics, visit our website at www.secondopinion-tv.org. 

{music in background}

(Announcer 2)
Major funding for Second Opinion is provided by the Blue Cross and Blue Shield Association, an association of independent, locally operated and community-based Blue Cross and Blue Shield plans, supporting solutions that make quality, affordable health care available to all Americans.

Additional funding provided by…