MUTYH-ASSOCIATED POLYPOSIS:
A PATIENT'S PERSPECTIVE

KEEPING MY COLON:
25 YEARS AND COUNTING
by James Leonard Park

    From the moment of my conception,
I was doomed to get colon cancer—and I did.

    Genetic testing for MUTYH-associated polyposis
did not come along until some years later,
but I did have colon cancer at age 50.
And we now know that it was caused by my two genetic defects
—one inherited from each of my parents.

    For specialists, here are the specific genetic defects:
This inherited defect in my DNA is named after the specific gene
where the mis-coding is found—the MUTYH gene.
This gene is located on the short arm of chromosome 1—called 1p.
In my case, I have the genetic defects called: Y165C and C382D.
This was determined by the Mayo Clinic in Rochester, Minnesota in 2009.
My genetic counselor sent a sample of my blood.
These two defects are some of the more common DNA errors
that cause MUTYH-associated polyposis.
Other defects have been identified, especially in non-Europeans.
(This syndrome used to be called MYH-associated polyposis.
But the gene was re-named MUTYH.
A shorter acronym applies to both---MAP.)
Perhaps about 1% of all colorectal cancers
are caused by MUTYH-associated polyposis.

    I am now age 79, so my colon cancer did not prove fatal.
Surgery removed a cancerous tumor the size of a tennis ball.
Colonoscopy had already removed another one the size of my thumb.
However, these were the only polyps that got that large—ever.
And none of the cancer cells had spread beyond these tumors.

    Nevertheless, my colon has continued to create several new polyps each year.
And these have been successfully removed or cauterized.

    I have had one colonoscopy per year ever since my cancer was discovered.
Sometimes conditions required more frequent clearing.

    And because colonoscopy alone has been so successful
for this last quarter century,
I have decided to continue to use colonoscopy to manage this chronic condition.

    I have no noticeable symptoms between treatments.
And all of the polyps discovered have been small. 
My colon otherwise is completely healthy.
And it performs all of its functions correctly.
So why not keep it?



50 NEW POLYPS PER YEAR

    Each year about 50 new polyps are discovered and removed.
These are randomly scattered through-out my colon.
From my perspective as the patient,
annual colonoscopy is a tolerable burden to bear.
For one week out of each year,
I eat only liquids and low-fiber foods.
And I spend a day purging.

The process of colonoscopy itself takes up to one hour,
which is easier than the preparations. 

    This process is much to be preferred to living
that same year without a colon.
The results are the same:
At the end of the year, I am still alive and cancer-free.

    And I lived that whole year without any of the problems
associated with the loss of the rest of my colon.

WHAT COUNTS AS A POLYP?

    Even tho medical science might count any growth that can be seen,
I count only those bumps that are large enough to remove.
I realize that these have been developing for some months or even years,
but they are still far from becoming dangerous.

    All of my polyps are small humps on the inside of my colon.
They are about 1-2 mm high and about 3-10 mm wide.
In other words, they are all quite flat,
contrary to what we might expect from something called a "polyp".
And when they are flattened out for examination under the microscope,
they sometimes seem wider than when they were in my colon.

    Of course, if they are not removed,
some will progress to become longer
and develop knobs on their ends.
So far, since my colon cancer,
no polyp has become long enough to form a knob.

    But all of my polyps are removed at a very early stage in their development
—years before they represent any danger of starting cancers.

    For doctors who are reading this, they are all tubular adenomas.
(And there are some hyperplastic polyps, which have no cancer potential.)
The stages of cellular development are determined
by looking at the removed polyps under a microscope.
The next stage is tubulovillous adenomas.
And even more advanced we have, villous adenomas.
With annual removal, none gets beyond the first stage: tubular adenoma.
The cell-type is more important than the gross size of each polyp.
In the past, some removed polyps have been tubulovillous adenomas.
And even a few villous adenomas.
If this happens again, I will consider more frequent colonoscopy.
But ever-improving techniques for removing even small polyps
has resulted in none of the tubulovillous or villous adenomas.

    It takes about five years for a polyp to turn into something cancerous.

    This is why annual clearing of these small polyps can work so well,
especially when the numbers are low enough to manage easily.

    Sometimes the GI doctor can see polyps that are too small to remove.
Perhaps new techniques will be developed in medical technology
that will allow safe removal of even tiny pre-polyps.

    In my experience, about half of the visible-but-too-small polyps
disappear on their own.
This probably happens as the result of
the normal shedding of the lining of the colon.
Thus, these too-small polyps do not count as polyps at all.
Only when they are large enough to remove
and be viewed under a microscope
should they be counted as verified polyps.

    In fact, counting with the microscope is the best way to evaluate polyps.
The pathologist will classify and count the polyps.
How many were there of each type?

    In my case, there are about 50 polyps large enough to remove each year.
And in recent years, almost all have been tubular adenomas.

    Some researcher might like more technical details
to project how many polyps should be expected for someone with Y165C and C382D.
Here are  my totals for this century:
2000---3 polyps, villous adenomas
2001---1 adenoma
2002---3 adenomas--one of these tubulovillous
2003---5 adenomas--all tubulovillous
2004---6 adenomas--all tubular
2005---16 adenomas--not specified
2006---7 adenomas--2 tubular, 5 tubulovillious
2008---9 adenomas--5 tubulovillous, 1 villous, 3 tubular
2009---8 adenomas--all tubular
2010---no count, one slide
2011---no count, one slide
2012---no count, one slide
2013---27polyps--all tubular adenomas except a few hyperplastic
2014---no count--all tubular ademomas, one slide
2016---no count--multiple tubular adenomas, some tubulovillous, hyperplastic
2017---37 polyps--all tubular adenomas
2018---38 polyps--one of these hyperplastic, one sessile serrated adenoma
2019---39 polyps--all tubular adenomas
2020---50 polyps--all tubular adenomas

Note on change of policy and practice from the beginning of this century.
In the early years, the doctors doing the colonoscopies
treated most of the small polyps with a zap of electricity to kill them.
(This worked fine, especially after it became clear
that all of the polyps were of the same type.)
Only the largest (and most dangerous) were removed
for examination under a microscope by a pathologist.
This also explains why the early years show more advanced polyps.
Only during the last three years listed above
were ALL of the polyps removed for microscopic evaluation.

For readers who have never had a colonoscopy,
neither the zapping nor the removal of polyps causes any pain.
There are almost no nerves in our large intestines.

In April 2015, I switched from daily aspirin (325 mg) to
clopidogrel bisulfate (Plavix) (75 mg, 4 times a week).
This was after 9 years of taking daily aspirin
to prevent heart-attacks and strokes.
This did work for that purpose,
but it also created a narrowing of my small intestine.
The clopidogrel does prevent unwanted wandering clots.
But there seems to be no change in the number and size of polyps
as a result of changing from aspirin to clopidogrel.
My conclusion: Neither of these is useful against polyps.

I also tried Celebrex (celecoxib) for one year,
with the same non-result:
My polyps continued to develop as before.



BUT WHAT IF SOME POLYPS WERE MISSED?

    Yes, it is always possible for the doctor to fail to see a small polyp.
They are all the same color as the rest of the inside of my colon.
And if not removed, they become larger for the next year.
(No missed polyps have been discovered recently.)
And the larger they are, the easier they are to see and remove.

    If we consider the worst failure rate to be about 20%,
this means that 10 polyps (out of 50) were missed one year.
And if next year, we have the same rate of not seeing them,
2 of these will be left (plus 8 more new ones missed).
Three years from now, even with a 20% rate of missing polyps,
both of these would probably be discovered and removed.

    A certain percentage of polyps disappear on their own,
especially the smallest ones.
They will never be seen again.
And they never appear in any counts.

    Thus, even at this high 20% rate of failure-to-find,
after five years, the remaining dangerous polyps are all gone.
Even if there are still 50 new polyps each year,
the risk of any polyp becoming large enough to cause cancer
is too small to calculate.
I will call it ZERO.
 
    In my quater-century of colonoscopies,
we have NEVER discovered a polyp
that was probably missed the previous year.
Thus all of my doctors have removed 100% of the polyps
large enough to be removed and viewed under a microscope.
(Over this 30 years since my cancer,
six different gastroenterologists have cleared my colon of polyps.)

    Polyps might double in size each year they are left in place.
If we say that at age one-year, the polyp is 1mm high,
then at age two-years, it will be 2mm high
(and also somewhat wider at its base).
At age three-years, it could double again in size to 4mm in height.
If not discovered until it is four-years-old, it would be 8mm long.
If it is left in place to double again in its fifth year,
it will be 1.6 cm long at the end of the fifth year.
(For those who are more familiar with inches, this is 2/3 of an inch.)

    As I noted earlier, this has never happened to me.
ALL of my polyps have been removed or cauterized
while they were quite small.
And the lining of my colon produces only one kind of polyp.

    Thus, my risk of developing another colon cancer is near zero
with regular screening and removal of all visible polyps.
I will probably die of something else, not colon cancer.



OTHER CANCERS ARE MORE LIKELY

    Patients who have the same syndrome
—MUTYH-associated polyposis—
are missing a repair function in their DNA,
which normally gets rid of random variations
that slip in when our cells divide to reproduce.

    We are twice as likely as the general population
to develop other kinds of cancer.
This general risk of other cancers is 38% during our life-times.
(Our risk of colon cancer is 100% if polyps are not removed.)

    Here is another article that gives more details
about the other cancers to watch for:
https://s3.amazonaws.com/aws-website-jamesleonardpark---freelibrary-3puxk/MYH.html
Because all of these other cancers are harder to discover,
they are more likely to cause my death than is colon cancer.

    And, of course, I could die from any other causes.
Heart and circulatory causes are second after cancer
as the most likely causes to be found on my death-certificate.

    As I get older and possibly develop other dangerous diseases,
I might decide to discontinue my annual colonoscopies
if at that time in my life, colon cancer has been overshadowed
by some more likely cause-of-death.

    Putting this another way, annual colonoscopy
has reduced my risk of death from colon cancer to nearly zero.
The other possible causes of my death are much greater than zero.
Instead of increasing the frequency of my colonoscopies,
it would make more sense to spend the same money
doing an MRI of my whole body
to see if cancer is developing in any of the other likely places.
The cost of an MRI and a colonoscopy are about the same.
But the MRI can detect unusual growths in many more places.



AND IF I DO GET COLON CANCER

    If any of my future colonoscopies discovers
that I do have a developing cancer anywhere in my colon,
I will not hesitate to have that part of my colon removed.
(I have had two such surgeries before.)
And this will be much easier on my body
than having my whole colon removed to prevent colon cancer.

    In my current thinking,
the slight additional risk I accept by keeping my colon
is acceptable when compared with the major problems
created by having to live every day without a colon.
As explained above, the risks for me are disappearingly small.
But the burdens of living without a colon are well known
and would definitely happen if I were to accept this recommendation.

WHY HAVE ALL OF MY GI DOCTORS
RECOMMENDED REMOVING MY COLON?

    The major background fact influencing their recommendation
is another syndrome—familial adenomatous polyposis (FAP).
This syndrome produces hundreds or even thousands of new polyps each year.
And if I did have this syndrome, I would accept the recommendation.
I have seen pictures of what such colons look like.

    But the newly-identified MUTYH-associated polyposis (discovered in 2002)
arises from a completely different place in our genetic codes. 
Thus, what has proven the correct recommendation for FAP
might not be best for every patient with MUTYH-associated polyposis.
In fact, some studies have shown
that some patients do very well with colonoscopy alone.
And I hope that I will be one of those patients.

    The American Society of Clinical Oncology (ASCO)
now recommends annual colonoscopy
for patients with MUTYH-associated polyposis:
https://www.cancer.net/cancer-types/myh-associated-polyposis
The general recommendation of the experts on this syndrome
is to use annual colonoscopy to remove all polyps
—unless the polyps become too large or too numerous
to manage in this less drastic way than removing the whole colon.

    I will update this article from time to time,
letting readers know how well my plan has worked.
And at the end of my life
(my death probably caused by something else),
this article might be re-titled:
"Against Medical Advice:
The Man Who Kept His Colon for 50 Years".



SELECTING PATIENTS WHO WOULD BE GOOD CANDIDATES
FOR COLONOSCOPY-ONLY TREATMENT
FOR MUTYH-ASSOCIATED POLYPOSIS

    Here are some open-ended questions worth exploring with patients:

RISKS:

    Does this patient fully understand the risks associated
with treating MUTYH-associated polyposis with colonoscopy alone?

    Is this patient willing to accept (perhaps in writing)
the stated risks associated with keeping his or her colon
and attempting to deal with polyps as they arise?

PATIENT AWARENESS AND UNDERSTANDING:

    How well does this patient understand the functions of the colon?
Does this patient have a good grasp of how polyps arise
and how they become cancerous?

PATIENT COOPERATIVENESS AND COMPLIANCE:

    How often does this patient cancel or miss colonoscopy appointments?

    Has this patient exhibited an irrational fear
of all doctors and medical treatments?

    If this patient is taking any prescribed medications,
how careful is the process?
How often are medications forgotten or mishandled?

    How old is this patient?
As the patient gets older, greater risks can be accepted
because death will come (from other causes)
within a few years no matter what is done.
What is the patient's likely life-expectancy
given all the known medical problems?

    Is this patient developing Alzheimer's disease
or some other form of dementia?
This would render future cooperation more complicated,
unless the duly-authorized proxies
have already agreed to continue the agreed-upon therapy.
When in any predictable mental decline
should even colonoscopy be abandoned
because this patient's death is near
or because his or her meaningful life is now over?

    In general, five years before death from other causes
would be a wise time to give up colonoscopy.
Saving this patient from this form of cancer
will probably not make much difference.

    What other medical problems does this patient have?
The longer the list of other possible causes of disease and death,
the less valid it would be to take the radical step
of removing whatever remains of the patient's colon
in order to prevent this specific cause of death.

    Taking this patient's whole life-and-death into account,
what is the best recommendation?
It would not be a success to 'save' the patient from colon cancer
only to have him or her die soon after from some other cause.

    Doctors, please consider the total qualify-of-life
for the final five years before this patient's death.
Is extending this patients life by a few months
worth the additional burdens
of having to live those months without a colon?

    Medical specialists should open them minds
(and recommendations)
to include all other health-factors.
It is not satisfactory to say:
"At least this patient did not die of a cause I could have prevented."

    Preventing colon cancer at the cost of the loss of a colon
should not always be counted as a success.
Some patients who agreed to lose their colons
had a much worse qualify-of-life
because of this over-cautious recommendation.
And their lives did not last much longer.



A related writing—MUTYH-associated polyposis—
uses question-and-answer format to address 13 questions
that laypersons might ask about MUTYH-associated polyposis:
https://s3.amazonaws.com/aws-website-jamesleonardpark---freelibrary-3puxk/MYH.html


MRI for MAP
Magnetic Resonance Imaging
for patients with
MUTYH-Associated Polyposis
https://s3.amazonaws.com/aws-website-jamesleonardpark---freelibrary-3puxk/MRI-MAP.html


Go to the beginning of this website
James Leonard Park—Free Library
Created June 21, 2017; Revised 6-22-2017; r 7-7-2017; 8-1-2017;  8-2-2017;
2-24-2018; 4-6-2019; 4-24-2019; 12-27-2019; 1-2-2020; 4-24-2020;
If any editor of the GI medical journal would like to publish this article,
the author would be glad to modify it for that publication.