Caitlin Whyte (Host): This is Flourish.
I'm Caitlin White, And with us today is Dr.
Ana ANI.
a rheumatologist from Prisma Health.
We're diving into the complexities of living with an autoimmune disease.
Well, doctor, my first question for you today is how do autoimmune diseases
develop and why does the immune system start attacking the body in this way?
Dr. Ana Gowani:
so This is a huge question and one that doesn't, have a simple answer.
but what we do know is that there are.
Three known factors that influence the development or pathogenesis
of an autoimmune disease.
So, that's genetics.
the immune system And then the environment.
a patient's genes can increase the risk, or genetic susceptibility
for an autoimmune disease.
For example, the concordance rate or occurrence rate in identical twins for
a specific autoimmune disease is about 10 times higher in fraternal twins.
so typically about two to 8%.
And so that being said.
Numerous genes have been shown to increase the risk for
developing autoimmune diseases.
we know about 80 genes in lupus thus far.
however, the individual impact is small.
And so apart from a few very rare autoinflammatory disorders that occur due
to defects in one single gene, there's typically not one genetic abnormality
at the root of an autoimmune disorder.
And so, the immune system has multiple regulatory mechanisms that help, prevent
sort of autoreactive lymphocytes from developing And in autoimmune disease.
these regulatory mechanisms break down.
so there's various ways that this can happen.
This can be due, to defective functioning of.
Antigen presenting cells like dendritic cells or macrophages or
due to a decline in the function or number of regulatory T cells.
but again, there are sort of multiple areas, in the immune
system where these, again, regulatory mechanisms can, Not work correctly.
so finally, environmental factors are felt to contribute to autoimmune disease.
So tobacco use or, cigarette smoking has been linked to an increased risk,
to rheumatoid arthritis development.
And then other factors like pollutants or exposure to certain viral infections
are felt to play a role as well.
Caitlin Whyte (Host): So just why are autoimmune disorders often
difficult to diagnose, And what are the most common early warning signs?
Dr. Ana Gowani:
so the challenge is that typically there isn't one laboratory test that.
Definitively diagnose a patient with a specific autoimmune disorder.
So a test that's commonly ordered by, various providers is an a NA or
anti-nuclear antibody test, which has a range of patterns and titers or degrees
of positivity, and is a non-specific test.
And I've had multiple patient's come to me saying that they were told that they had
lupus because they had a positive a NA.
When an a NA actually occurs in about 16% of the general population are almost one
in five people, And that number rises to about 30% or almost one in three people
when patient's are 60 years and older.
And so just having a positive a NA isn't diagnostic of
having, an autoimmune disorder.
Most autoimmune diseases are diagnosed based on clinical history with
presentation of certain clinical features, partnered with specific laboratory
studies, including autoantibodies.
but it's important to see a rheumatologist for evaluation and diagnosis.
and there are, many presentations of autoimmune disease.
so the early warning signs can vary, but one warning sign that can be seen is the
development of new onset Reno phenomenon.
And an older individual.
So OID phenomenon is vasospasm of the digits during which it can look
like someone's tied a tourniquet around the middle of your fingers,
resulting in severe blanching or pale skin that has a clear demarcation.
Then as if the tourniquet was released, the fingers can become red due to
increased blood flow back to the fingers.
And so This is very common in young women.
But features of Reno phenomenon that would be concerning for a possible
underlying autoimmune disease would be older onset, typically after the age of
30, intense or painful episodes that can even result in ischemic digits or
digital ulcers or asymmetric attacks.
Caitlin Whyte (Host): Well, you mentioned before that environment and lifestyle
come into play a bit when it comes to developing these diseases, but I'd
love to also talk about the genetics.
What role do genetics have in autoimmune diseases and why do
they affect women more than men?
Dr. Ana Gowani:
so one study recently, evaluated electronic health record data from six
large medical systems using a software program that generated an estimated
prevalence of autoimmune disease.
And so in that particular study, about 4.6%
of the US population had an autoimmune disease.
Of those patient's, 63% of them were female.
in this study, women were twice as likely as men to be diagnosed
with an autoimmune disease.
And for some diseases such as lupus or Sjogren's disease, the ratio
of women to men being diagnosed.
Has been, reported as high as about nine to one.
So there are many proposed explanations for the difference in prevalence,
including hormonal differences, environmental factors, or even the
expression of the X chromosome.
So it's known that men carry one X chromosome while women
carry two x chromosomes.
And so normally in nature, one chromosome in women is inactivated
to avoid gene overexpression.
And overproduction of certain proteins.
So one, recent study published in nature was looking at whether these,
RNA protein, DNA complexes that are generated to help inactivate that X
chromosome, whether or not they play a role in triggering autoimmunity.
But at this time, there's still a lot of research being done to help
investigate these questions further.
Caitlin Whyte (Host): Well, what are some of the biggest misconceptions that
patient's have about autoimmune disorders?
Dr. Ana Gowani:
I think that the term inflammation is used in very generalized terms
and can, sometimes be misinterpreted.
So people will often come in using the phrase, I feel
inflamed, or I have inflammation.
but a lot of the time that actually translates into, pain or discomfort.
And so.
there is both inflammatory pain and non-inflammatory pain, and both types of
pain can be severe, but it's important to differentiate between the two
because the treatment is very different.
Caitlin Whyte (Host): Well, that brings us to our next question.
How have treatment options such as biologics and personalized
medicine changed patient outcomes?
Dr. Ana Gowani:
the treatment landscape and rheumatology has changed dramatically
over the past few decades.
As an analogy, the difference in treatment previously versus now is as
if you were using towels to dry up water from a running faucet versus now having
the ability to turn the faucet off.
And so there are many cells that are important in the immune system.
but two important players are your B cells and T cells.
And so B cells move through the body to help differentiate between ourselves
and proteins that shouldn't be there.
They can help detect viruses such as influenza and help produce antibodies
to coat the foreign protein.
T cells then recognize these antibodies and help eliminate.
the foreign protein T cells also can help generate a response to
upregulate and produce cytokines, which help produce inflammation to
help fight this, foreign protein.
And so in autoimmune disease, the immune system starts to
malfunction and instead starts to misidentify your cells as foreign.
biologic therapies have different targets, including cytokines or these.
Small proteins that act as messengers for the immune system that are
important for cell signaling and can upregulate inflammatory responses.
And so an example of this would be Tocilizumab, which is a biologic
medication that specifically targets the cytokine interleukin six.
In addition, some biologic agents target specific markers on a cell
surface such as CD 20, so that they can impact a specific cell population.
So an example of This is rituximab, which targets CD 20 express on B
cells and can help deplete B cells.
And so the benefit of biologics is that they're much more precise
at targeting the underlying proteins that are causing a ruckus.
Caitlin Whyte (Host): And then beyond medication, I'd love to go back and
touch on lifestyle factors again, like diet, sleep, and stress management.
Can those influence disease progression at all?
Dr. Ana Gowani:
So one great dietary approach is practicing the Mediterranean diet and
avoiding a lot of processed foods.
The Mediterranean diet includes a high intake of plant-based foods
such as whole grains, fruits and vegetables, nuts, fish, seafood.
one study looking at rheumatoid arthritis, patient's who are
following a Mediterranean diet.
In conjunction with physical activity over three months showed a significant
reduction in the disease activity score on 28 joints, or the DAS 28,
which is a clinical disease activity tool compared to the control group.
And those patient's also had an improvement in metabolic
outcomes such as body weight, body composition, and blood sugar.
With regards to stress, there have been studies looking at rat models
with psoriasis where rats that were exposed to unpredictable stressors
for eight weeks had increased, in their epidermal thickness and worsened
psoriasis compared to controls.
Sleep disruptions are associated with poor cognitive function,
increased pain sensitivity, and a higher risk for depression.
So it's important to try and optimize as many lifestyle factors as possible,
to improve health and overall function.
Caitlin Whyte (Host): Well, how does living with an autoimmune disease
affect your mental health fatigue and just your overall quality of life?
Dr. Ana Gowani:
of patient's with autoimmune disease, one study found that more than half
can suffer from anxiety and depression.
and while the link between autoimmune disease and mental health has
not fully understood, you can imagine that some contributors to
worsening, depression could be a new diagnosis of autoimmune disease.
And the implications that may have for a patient's life.
some medications can contribute to fatigue, And then there are other
factors such as pain from a condition that may impact or disrupt sleep,
which is also known to contribute to an increased risk for depression.
Caitlin Whyte (Host): Also, how can autoimmune patient's best advocate for
themselves when navigating medical care?
Dr. Ana Gowani:
So one example.
advice is that sometimes, so using a disease, process example, so,
patient's with diffuse scleroderma are at higher risk for a complication
known as scleroderma renal crisis, which can be life-threatening.
This can present with severe hypertension, rapid progressive renal failure,
congestive heart failure, or severe.
anemia And so since scleroderma is rare, not all medical providers are
familiar with how to treat what is considered a scleroderma emergency.
So, for these patient's, scleroderma renal crisis prevention card can
actually be given to patient's with, diffuse scleroderma to
carry with them in their wallet.
This can describe, you know, the warning signs of new onset scleroderma renal
crisis, such as new headaches, blurred vision, abrupt elevations in blood
pressure, shortness of breath, et cetera.
And it's a card that the patient can give to emergency room physicians to
explain what may be happening to them.
And describes the best treatment course, which is an ACE inhibitor, And so This
is just one strategy for a particular group of patient's with a rare autoimmune
disease designed to help improve health outcomes and help patient's advocate
for appropriate treatment early.
Caitlin Whyte (Host): And to close it out for us today.
Doctor, what advice?
Would you give patient's on improving quality of life while
living with an autoimmune disorder?
Dr. Ana Gowani:
for a lot of my patient's will say to just take it one day at a time.
a lot of times at the beginning of treatment of an autoimmune disease
such as rheumatoid arthritis, there are a lot of moving parts in terms of
starting new medications, obtaining screening labs or other tests.
I think it's important to try and take it one day at a time.
Otherwise it can become very overwhelming.
there is a lot in autoimmune disease as well That is out of the patient's control.
However, it is also important to try and take control of the
factors you can control to help improve your autoimmune disease.
For example, working on quitting smoking, trying to follow a healthy Mediterranean
based sort of low processed food diet.
Taking medications as prescribed, trying to practice good sleep habits
at night, promote, good sleep, such as reducing screen time and trying to
participate in exercise for at least 30 minutes a day, five times a week.
Caitlin Whyte (Host): That was Dr.
Ana ANI.
I.
For more information, please go to prisma health.org/flourish.
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For more topics of interest, I'm Caitlyn White and This is Flourish.
Thank you for.