An old army buddy of mine has just been diagnosed as having an “intermittently secreting pheochromocytoma”.
His endocrinologist has said that this condition is very, very rare with only about two or three cases a year reported in the USA.
Apparently it has no definitive biological tests (ie: blood or urine tests), and it does not show up on any diagnostic imaging technique unless it is “active” at the time.
Normally, the diagnosis is made on the basis of symptoms presented; and the definitive diagnosis is made during autopsy. Apparently, most sufferers die from a stroke during “an episode”.
Consequently, there is no cure for the condition; and treatment is symptomatic.
This sounds very strange to me; is he being fed a load of BS, or is this real?
Since I am not a doctor, I am not about to contradict his medical specialists, or give him any advice. But I am curious to know more about this.
That description matches what I read onlinefairly well. We’re in no position to judge if he really has that condition or not; outside of that what exactly were you after?
One thing I do see is that as it’s a tumour it’s potentially able to be caught on image and surgically removed. You might ask whether it’s been actually seen on a scan, and why surgery is not an option.
What I was wondering is, in that there is apparently no objective diagnostic method available to confirm its existence, if this is actually a real condition; as opposed to just something a doctor might say to get rid of a troublesome patient.
No, it hasn’t been “seen” in his case.
Apparently, it can’t be caught on imaging for two reasons: the tumor can be as small as a grain of rice, but still wreak havoc on the endocrine system; and if it is not “active” it will not take up the radioactive isotopes, and therefore will not show up on x-rays.
If they can’t see it, the can’t remove it.
I am using the word “apparently” a lot, because this is what he told me, and I am seeking to confirm what he has been told.
There are apparently two forms of pheochromocytoma: the “normal” form, which is relatively common, and is diagnosed using a variety of blood and imaging tests; and the “intermittently secreting” form, which is the form I am interested in and is characterized as I have noted above.
The cite presented by “Askance”, above, refers to the “normal” form, and therefore does not seem directly on point. But thanks, anyway.
It sounds to me as if the endocrinologist is making an assumption that an undiscovered pheochromocytoma must be the cause of the patient’s presentation. All pheos secrete “intermittently”–that is to say, the amount of catecholamines they are excreting varies unpredictably. If there is a defined sub-category which only secretes hormones very episodically and is otherwise totally inactive, I am not aware of it, but I would not be surprised to find descriptions of pheochromocytomas which did that.
Normally we find pheochromocytomas either as incidental masses on CT scans (or other body imaging) done for other reasons, or we find them when we are specifically looking for them because the patient’s presentation is suspicious or their laboratory workup is suggestive. If the presentation is suspicious, but the laboratory and imaging workup is negative, a diagnosis of an “intermittently-secreting” pheo might be tendered. It is, at that point, a presumptive diagnosis.
It occurs to me that one approach for diagnostic consideration would be to measure blood or urine catecholamines during or shortly after a putative attack.
I do not think it is correct that a symptomatic tumor might be “smaller than a grain of rice” but I am not an expert. It’s certainly correct that imaging studies–including MRI and MBG–could miss a tumor. If paroxysmal hypertension is the patient’s presenting complaint, it can be managed clinically, so assuming the patient is only intermittently (dangerously) hypertensive, it’s a bit of an exaggeration to leave the impression the only course of management is to wait for the patient to die from a hypertensive crisis of some sort.
I haven’t had a lot of success in Googling the intermittent form of Pheo, so your comments were informative.
Apparently my buddy has two problems with regard to objective diagnosis: the clinically critical episodes occur purely at random, so they haven’t had any success in getting a blood sample during an episode.
Similarly, the urine tests are apparently based on a 24 hour averaging of metabolites. Since his episodes occur at random and are of varying duration, when his urine metabolites are tested, the results come out “normal”. This is evidently an artifact of the 24 hour averaging.
Seems to me that some kind of test in which his urine is sampled on an hour to hour basis may produce something of value; at least it should show the hormone spikes. Maybe?
Since his BP has episodic spikes to stroke levels, and at other times he has episodes in which it plummets so low that he passes out, he has been advised to take BP medication only in response to acute attacks; as opposed to taking it on a routine basis.
On the face of it, it looks like his future is not a happy one.
You could, indeed, do a short-term sample of urine and extrapolate the results to see if the catecholamine metabolites are way out of line; if they were, you’d be more suspicious of a pheo as the underlying cause for the labile hypertension. The subtlety would be interpreting the test. The idea of a 24 hour urine is to average out results since there is natural variation in the rates of almost all hormone secretions. Remember that for the most part, pheos are making regular hormones but at excess levels. You are not looking for a chemical that is pathognomonic (specific) for pheo. You are just looking for abnormal levels of normal hormones and their metabolites. If you check a spot urine and its extrapolated result is out of range, did you hit a natural spike or find evidence of a pheochromocytoma?
A spot blood test would be a little more helpful, in my opinion, because if that’s way out of range then your suspicion is increased even more–you’ve taken out the time delay of filtering the blood into the urine.
But say any results are suggestive: You still have the problem of finding a pheochromocytoma to remove. If you already can’t find one on imaging studies, you’re left with some really fancy and somewhat invasive tests such as sticking catheters up various veins and comparing catecholamine levels from various regions. And if the putative pheo is truly silent except when it gets triggered to go rogue, you might end up doing a lot of invasive testing looking for differential secretion levels for a tumor you can’t find anyway (and therefore can’t remove).
And it’s a presumptive diagnosis anyway…maybe the patient just has a really screwed up adrenal gland that is over-sensitive to some other unknown trigger. Most pheos are essentially fairly normal tissue (that’s why they can make hormones that work) that’s multiplied out of control enough to become a separate “tumor” and there’s kind of a fine line between that and other normal tissue which has just lost its regulatory feedback.
In general, my advice to friends with difficult diseases is to find a good doctor–a Board-certified endocrinologist is a pretty expert choice. If the problem is still really tricky, I think a request for referral to an academic center is worthwhile. They love great cases and will provide the best opportunity to sort it out.
But I admit that there is no guarantee of an outcome any different than managing the labile hyper- and hypo-tensive crises as best you can.
It’s a fascinating topic and one of those times hearing about a really good case (in medicine, “a really good case” is defined from the perspective of physicians and not patients ) makes us wish we were personally handling it. Pheochromocytomas are already an odd entity with protean manifestations. They are diagnostic zebras, meaning we spend our days looking at horses and every once in a while, if we are lucky, we find a zebra in the pack. An unusual presentation of an unusual problem is practically a unicorn. Lots of medical fun, although not for the patient.
At our next poker night, I will pass on your comments and observations to my buddy.
Specifically, I will tell him that since he is in the hands of an apparently good endocrinologist, then he should stick with him and go with the advice he is given.
I will also tell him to hold out for a good deal for the movie rights!
As an ex-endocrinologist, I am unaware of the existence of this entity except to say that I agree with Chief Pedant that all pheos secrete episodically. That is why the advice below is crucial:
In fact, whenever I had a patient with a suspected pheo, or carcinoid syndrome, or any disorder characterized by paroxysmal attacks, I instructed the patient to begin the urine collection upon, and only upon, the development of their typical symptom complex.
Maybe my reading skills are declining as my age advances, but I don’t see where/how the diagnosis was made in your friend’s case. In other words, I agree with Chief Pedant that there may be some assumptions being made (that may not be justified). I am not convinced he has a pheo (on the basis of the info being presented).
No Karl, your reading skills have not necessarily declined.
I have passed on the information I have available to me, and I acknowledge that that is without a doubt incomplete.
Regarding the diagnosis, I have simply taken his statements on face value, but also acknowledge that the specific basis for his the diagnosis is not evident from the information we have available.
Out of respect for his privacy, I have chosen not to pry too much into my friend’s condition, and have limited myself to what he has volunteered during poker sessions.
The questions I have asked are simply in order to satisfy my own curiosity about what seems to be a very unusual medical condition.
In this respect, the responses provided above have been very useful and informative. The more I learn about our biological and biochemical functions, the more fascinating it gets.
In light of the interest shown, I phoned my buddy. He said that given that I had discussed the details of my recent heart attack with him, he had no problem discussing his health problems with me.
He told me that the symptoms he experiences are as follows; listed in no particular order, and which occur at random:
Excruciating headaches, especially on first waking in the morning. But often develop in the late afternoon.
Nausea, usually on waking in the morning; but often develops late in the afternoon
Constant pain of varying intensity in the vicinity of his lower RHS rib cage, radiating into his right kidney area
Difficulty focusing eyes, usually in the morning on waking
Profuse sweating during sleep at night
Wildly fluctuating blood pressure: “exploding head” type highs, to losing consciousness lows.
Pulse sometimes shoots up to 150 - 200 BPM
Intense dull, aching pain affecting the muscles of the entire body
Intense dull aching pain in the elbow and knee joints
Mild exercise causes him to “fall asleep”
General “lack of energy”
Tremor in his legs
Heart “does cartwheels” in his chest
Spontaneous vomiting
Slurring of speech
Staggering walk
White patches of skin on the elbows and knees (he is Caucasian)
The treatment regime he has been prescribed is:
High salt diet; take extra salt when symptoms appear
Take pure licorice supplements when speech slurring occurs
Oxycodone (10) + Valium(10) for intense pain
Paracetamol(500) + Codeine(30) for less intense pain
In the meanwhile, note that the distinct entity of severe paroxysmal hypertensionis not rare (and certainly better recognized than "interrmittently secreting pheochromocytoma). Likewise, obstructive sleep apnea can manifest in similar waysbut, unlike severe paroxysmal hypertension, can be associated with elevated catecholamine levels.
Bottom line: IMNSHO, he needs a second opinion from another endocrinologist or hypertension expert (usually a nephrologist, sometimes a cardiologist), preferably at an academic center in any case.
) makes us wish we were personally handling it. Pheochromocytomas are already an odd entity with protean manifestations. They are diagnostic zebras, meaning we spend our days looking at horses and every once in a while, if we are lucky, we find a zebra in the pack. An unusual presentation of an unusual problem is practically a unicorn. Lots of medical fun, although not for the patient.