- "When you hear hoofbeats,
"think horses, not zebras."
This is a saying
that's instilled in your mind
as a medical student
by your senior physicians.
They tell you this over and over again
when you're presenting your cases.
Reason being, when you're a student
and you're learning about these obscure diseases
that you're being tested on,
that are very rare,
it's normal for them to pop into your mind
the first time you see a symptom
that matches that illness.
Well, you can't think like that
as a practicing doctor.
The way we're trained to do this
is to create a differential diagnosis.
This is a list of illnesses
ranked in order
from most probable to least probable,
with the exception of a disease
that can harm you now.
For example, if you come into my office
as a 21-year-old male
complaining of some midsternal chest pain,
I'm not gonna assume
you have a heart attack.
It's not likely that you're having a heart attack.
But I best rule it out
'cause he can be life-threatening.
All that being said,
I admit that we in the medical community
forget about our zebras.
Our patients with these
rare, chronic, incurable illnesses
that go undiagnosed
for decades at a time
simply because we're thinking horses, not zebras.
So today, I want to cover three
rare, chronic, incurable illnesses.
PCOS, Ehlers-Danlos syndrome, and thyroid disease.
In order to have an honest discussion
about these patients who are truly suffering
as a result of misdiagnoses.
Patient number one is a 28-year-old female
that comes in with a chief complaint of acne, or breakouts.
After a brief history and physical exam,
the doctor diagnoses the patient with acne vulgaris.
Prescribes a topical treatment, a cream,
in order to help the breakouts go away
with follow-up in a few weeks.
However, a crucial part of the history was missed.
Is the patient having normal menstrual cycles
and is the patient experiencing any hair growth
that is unusual for them?
The reason we need to ask these two questions
is because of a condition known as
polycystic ovary syndrome.
PCOS is a hormonal reproductive condition
that is estimated to affect
8% to 20% of reproductive-age women
across the globe.
So it's technically
not even a zebra,
yet we treat it as such.
Up to 50% of women say it takes
seeing three different doctors before
the diagnosis is finally made.
The diagnosis is made by meeting
two of the three Rotterdam criteria.
One, being infrequent or missed periods.
Some patients don't have a menstrual cycle
four to six months at a time.
Second is having an increase in male hormones,
whether we measure it in the bloodstream
or through clinical features
like male pattern facial hair growth.
And three, seeing polycystic ovaries on ultrasound.
Once the patient meets this clinical criteria,
we then order several lab tests
in order to rule out other conditions
that may mimic PCOS.
Once we've ruled all those out,
we can then continue with the PCOS diagnosis
and focus on three other things.
The blood sugar, cholesterol, and blood pressure.
One of the most important reasons
as to why we need identify PCOS early on
is because of the metabolic syndrome side effects.
What I'm talking about is
increased insulin resistance, overall weight,
and high cholesterol scores.
These can put the patient at direct risk
for developing heart disease
amongst other problems.
We've also seen by controlling these factors,
either by giving medications like Metformin,
making lifestyle changes like dieting and exercising,
can help control the symptoms of PCOS
and, in general, improve risk factors.
One of the most patient-centered problems with PCOS
is that because patients
are not going through
their regular menstrual cycles
and they're not ovulating regularly,
they have problems with fertility
and they're not able to get pregnant as easily
as someone who doesn't have PCOS.
Rest assured, there are treatments available to this,
whether we're talking about medications,
in vitro fertilization,
or simply making lifestyle changes
in order to decrease the symptoms
and severity of PCOS.
For my medical professionals,
do not think of PCOS as a zebra.
It is there, it is happening in large numbers,
and it's truly affecting our patient's health.
And if you are a patient
and you're experiencing
any of these symptoms,
do not be afraid to bring them up
on your next doctor's visit.
Patient number two is a 48-year-old female
that comes in with a chief complaint of
fatigue, weight gain, and muscle aches.
After a brief history and physical exam,
the doctor determines that the patient
must be a bit dysthmyic, depressed even.
Perhaps perimenopausal based on her age.
Recommends a few lifestyle modifications
and cognitive behavioral therapy for her mental state,
and sends her on her way
with a follow-up in a few months.
But something crucial was missed.
Thyroid disease was not discussed.
And again, folks,
thyroid disorders are not true zebras.
Up to 12% of the US population
will have a thyroid disorder in their lifetime.
And it ought to be discussed.
The thyroid is a hormone producing gland
that regulates the body's metabolism.
It basically changes the way
that our body interacts
with nutrients and oxygen,
and it affects our activity levels.
So if you don't have enough thyroid hormone,
think about the body slowing down.
Depression, weight gain, cholesterol going up.
If you have too much thyroid hormone,
think about your body speeding up.
Anxiety, tremors, insomnia, hair loss.
But because of these symptoms
are so far and wide ranging,
it's very easy to miss
a diagnosis of thyroid disease
unless you're actively thinking about it.
Most thyroid diseases
are lifelong conditions
without a technical cure,
but they can be managed
with medical, surgical or other interventions.
The danger really comes in
when they go underdiagnosed or undiagnosed,
because then patients can develop
cardiovascular disease, infertility, or even osteoporosis.
Some interesting statistics about thyroid disease,
an estimated 20 million Americans
have some form of it,
up to 60% of those with the disease
are unaware of their condition,
and women are five to eight times
more likely than men
to have thyroid problems.
We don't even know why.
The way we check for thyroid diseases
by doing a series of blood tests.
Now not everyone needs to be
screened for thyroid disease,
we haven't seen efficacy of that.
but if you're having symptoms,
definitely worth discussing with your doctor.
Patient number three is a 35-year-old male
that comes in with a chief complaint of easy bruisability.
The doctor does a good history and physical exam,
and wants to rule out bleeding disorders.
Does a whole set of blood tests
only to find out that they're all negative,
so they reassure the patient.
Patient goes home without an answer.
What should have been asked
are questions about hypermobile joints,
accidents, loose skin, and family history.
Why?
Ehlers-Danlos syndrome.
It's one of those zebras
that we always have to keep in the back of our minds.
EDS is a genetic condition
that affects the connective tissues of our body.
This can include skin, blood vessels, bone, and even organs.
Now there's 13 different subtypes of EDS,
but all of them have one thing in common
and that's hypermobility.
It's really important
when you're seeing these group of symptoms
arise in a patient
that you ask about hypermobility
so that it doesn't go overlooked.
In fact, there's currently no cure
for Ehlers-Danlos syndrome,
but we can focus on controlling the risk factors
and helping patients reduce
their symptoms of the disease.
Currently, it's estimated that one in 5,000 individuals
in the US will be diagnosed with EDS.
And classically, it goes underdiagnosed.
In order to make the diagnosis,
we use a set of clinical criteria,
genetic blood tests, imaging,
and even skin biopsy at times
to make sure that we are,
in fact, treating the correct
subtype of the disease.
When we're talking about treatments,
we're largely focusing on physical therapy,
surgery to fix the injured joints,
and finally drugs and medications
that can help a patient with the symptoms of EDS.
One of the most common misconceptions about EDS
is that it must be inherited from your family.
And while that is true
for the majority of cases,
because it is usually transferred
in an autosomal dominant or autosomal recessive nature,
there are de novo,
meaning new mutations that can happen spontaneously,
where you develop EDS
without any of your family members
ever being diagnosed.
It's also important to keep in mind
that there are other connective tissue disorders
and hypermobility disorders
that need to be ruled out
before jumping to the diagnosis of EDS.
But that is why it's really important
that if you have hypermobile joints, elastic skin
or any of the symptoms I mentioned above,
talk to your doctor.
Make sure that you're diagnosed correctly.
Do you know a zebra condition
that I should be talking about?
Drop it down below in the comments.
And if you want more information
on any of these illnesses
that I talked about in today's video,
links are down below to legitimate source.
Check out this video here
where I actually diagnose a patient with EDS
on one of my Day in The Life videos.
As always, stay happy and healthy.