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Living With Autoimmune Disease: Diagnosis, Treatment, and Daily Life · Flourish- A Prisma Health Podcast

• 0:03
  Caitlin Whyte (Host): This is Flourish.
• 0:04
  I'm Caitlin White, And with us today is Dr.
• 0:07
  Ana ANI.
• 0:08
  a rheumatologist from Prisma Health.
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  We're diving into the complexities of living with an autoimmune disease.
• 0:15
  Well, doctor, my first question for you today is how do autoimmune diseases
• 0:19
  develop and why does the immune system start attacking the body in this way?
• 0:24
  Dr. Ana Gowani:
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  so This is a huge question and one that doesn't, have a simple answer.
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  but what we do know is that there are.
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  Three known factors that influence the development or pathogenesis
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  of an autoimmune disease.
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  So, that's genetics.
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  the immune system And then the environment.
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  a patient's genes can increase the risk, or genetic susceptibility
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  for an autoimmune disease.
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  Numerous genes have been shown to increase the risk for
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  developing autoimmune diseases.
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  we know about 80 genes in lupus thus far.
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  however, the individual impact is small.
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  And so apart from a few very rare autoinflammatory disorders that occur due
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  to defects in one single gene, there's typically not one genetic abnormality
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  at the root of an autoimmune disorder.
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  And so, the immune system has multiple regulatory mechanisms that help, prevent
• 1:16
  sort of autoreactive lymphocytes from developing And in autoimmune disease.
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  these regulatory mechanisms break down.
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  so there's various ways that this can happen.
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  This can be due, to defective functioning of.
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  Antigen presenting cells like dendritic cells or macrophages or
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  due to a decline in the function or number of regulatory T cells.
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  but again, there are sort of multiple areas, in the immune
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  system where these, again, regulatory mechanisms can, Not work correctly.
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  so finally, environmental factors are felt to contribute to autoimmune disease.
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  So tobacco use or, cigarette smoking has been linked to an increased risk,
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  to rheumatoid arthritis development.
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  And then other factors like pollutants or exposure to certain viral infections
• 2:00
  are felt to play a role as well.
• 2:03
  Caitlin Whyte (Host): So just why are autoimmune disorders often
• 2:06
  difficult to diagnose, And what are the most common early warning signs?
• 2:11
  Dr. Ana Gowani:
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  so the challenge is that typically there isn't one laboratory test that.
• 2:15
  Definitively diagnose a patient with a specific autoimmune disorder.
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  So a test that's commonly ordered by, various providers is an a NA or
• 2:24
  anti-nuclear antibody test, which has a range of patterns and titers or degrees
• 2:29
  of positivity, and is a non-specific test.
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  And I've had multiple patient's come to me saying that they were told that they had
• 2:35
  lupus because they had a positive a NA.
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  When an a NA actually occurs in about 16% of the general population are almost one
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  in five people, And that number rises to about 30% or almost one in three people
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  when patient's are 60 years and older.
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  And so just having a positive a NA isn't diagnostic of
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  having, an autoimmune disorder.
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  Most autoimmune diseases are diagnosed based on clinical history with
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  presentation of certain clinical features, partnered with specific laboratory
• 3:04
  studies, including autoantibodies.
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  but it's important to see a rheumatologist for evaluation and diagnosis.
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  and there are, many presentations of autoimmune disease.
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  so the early warning signs can vary, but one warning sign that can be seen is the
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  development of new onset Reno phenomenon.
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  And an older individual.
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  So OID phenomenon is vasospasm of the digits during which it can look
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  like someone's tied a tourniquet around the middle of your fingers,
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  resulting in severe blanching or pale skin that has a clear demarcation.
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  Then as if the tourniquet was released, the fingers can become red due to
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  increased blood flow back to the fingers.
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  And so This is very common in young women.
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  But features of Reno phenomenon that would be concerning for a possible
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  underlying autoimmune disease would be older onset, typically after the age of
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  30, intense or painful episodes that can even result in ischemic digits or
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  digital ulcers or asymmetric attacks.
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  Caitlin Whyte (Host): Well, you mentioned before that environment and lifestyle
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  come into play a bit when it comes to developing these diseases, but I'd
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  love to also talk about the genetics.
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  What role do genetics have in autoimmune diseases and why do
• 4:14
  they affect women more than men?
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  Dr. Ana Gowani:
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  so one study recently, evaluated electronic health record data from six
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  large medical systems using a software program that generated an estimated
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  prevalence of autoimmune disease.
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  And so in that particular study, about 4.6%
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  of the US population had an autoimmune disease.
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  Of those patient's, 63% of them were female.
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  in this study, women were twice as likely as men to be diagnosed
• 4:42
  with an autoimmune disease.
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  And for some diseases such as lupus or Sjogren's disease, the ratio
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  of women to men being diagnosed.
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  Has been, reported as high as about nine to one.
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  So there are many proposed explanations for the difference in prevalence,
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  including hormonal differences, environmental factors, or even the
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  expression of the X chromosome.
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  So it's known that men carry one X chromosome while women
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  carry two x chromosomes.
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  And so normally in nature, one chromosome in women is inactivated
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  to avoid gene overexpression.
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  And overproduction of certain proteins.
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  So one, recent study published in nature was looking at whether these,
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  RNA protein, DNA complexes that are generated to help inactivate that X
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  chromosome, whether or not they play a role in triggering autoimmunity.
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  But at this time, there's still a lot of research being done to help
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  investigate these questions further.
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  Caitlin Whyte (Host): Well, what are some of the biggest misconceptions that
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  patient's have about autoimmune disorders?
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  Dr. Ana Gowani:
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  I think that the term inflammation is used in very generalized terms
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  and can, sometimes be misinterpreted.
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  So people will often come in using the phrase, I feel
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  inflamed, or I have inflammation.
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  but a lot of the time that actually translates into, pain or discomfort.
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  And so.
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  there is both inflammatory pain and non-inflammatory pain, and both types of
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  pain can be severe, but it's important to differentiate between the two
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  because the treatment is very different.
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  Caitlin Whyte (Host): Well, that brings us to our next question.
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  How have treatment options such as biologics and personalized
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  medicine changed patient outcomes?
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  Dr. Ana Gowani:
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  the treatment landscape and rheumatology has changed dramatically
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  over the past few decades.
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  As an analogy, the difference in treatment previously versus now is as
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  if you were using towels to dry up water from a running faucet versus now having
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  the ability to turn the faucet off.
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  And so there are many cells that are important in the immune system.
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  but two important players are your B cells and T cells.
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  And so B cells move through the body to help differentiate between ourselves
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  and proteins that shouldn't be there.
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  They can help detect viruses such as influenza and help produce antibodies
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  to coat the foreign protein.
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  T cells then recognize these antibodies and help eliminate.
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  the foreign protein T cells also can help generate a response to
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  upregulate and produce cytokines, which help produce inflammation to
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  help fight this, foreign protein.
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  And so in autoimmune disease, the immune system starts to
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  malfunction and instead starts to misidentify your cells as foreign.
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  biologic therapies have different targets, including cytokines or these.
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  Small proteins that act as messengers for the immune system that are
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  important for cell signaling and can upregulate inflammatory responses.
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  And so an example of this would be Tocilizumab, which is a biologic
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  medication that specifically targets the cytokine interleukin six.
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  In addition, some biologic agents target specific markers on a cell
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  surface such as CD 20, so that they can impact a specific cell population.
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  So an example of This is rituximab, which targets CD 20 express on B
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  cells and can help deplete B cells.
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  And so the benefit of biologics is that they're much more precise
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  at targeting the underlying proteins that are causing a ruckus.
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  Caitlin Whyte (Host): And then beyond medication, I'd love to go back and
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  touch on lifestyle factors again, like diet, sleep, and stress management.
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  Can those influence disease progression at all?
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  Dr. Ana Gowani:
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  So one great dietary approach is practicing the Mediterranean diet and
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  avoiding a lot of processed foods.
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  The Mediterranean diet includes a high intake of plant-based foods
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  such as whole grains, fruits and vegetables, nuts, fish, seafood.
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  one study looking at rheumatoid arthritis, patient's who are
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  following a Mediterranean diet.
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  In conjunction with physical activity over three months showed a significant
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  reduction in the disease activity score on 28 joints, or the DAS 28,
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  which is a clinical disease activity tool compared to the control group.
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  And those patient's also had an improvement in metabolic
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  outcomes such as body weight, body composition, and blood sugar.
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  With regards to stress, there have been studies looking at rat models
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  with psoriasis where rats that were exposed to unpredictable stressors
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  for eight weeks had increased, in their epidermal thickness and worsened
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  psoriasis compared to controls.
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  Sleep disruptions are associated with poor cognitive function,
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  increased pain sensitivity, and a higher risk for depression.
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  So it's important to try and optimize as many lifestyle factors as possible,
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  to improve health and overall function.
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  Caitlin Whyte (Host): Well, how does living with an autoimmune disease
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  affect your mental health fatigue and just your overall quality of life?
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  Dr. Ana Gowani:
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  of patient's with autoimmune disease, one study found that more than half
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  can suffer from anxiety and depression.
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  and while the link between autoimmune disease and mental health has
• 9:49
  not fully understood, you can imagine that some contributors to
• 9:53
  worsening, depression could be a new diagnosis of autoimmune disease.
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  And the implications that may have for a patient's life.
• 10:00
  some medications can contribute to fatigue, And then there are other
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  factors such as pain from a condition that may impact or disrupt sleep,
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  which is also known to contribute to an increased risk for depression.
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  Caitlin Whyte (Host): Also, how can autoimmune patient's best advocate for
• 10:15
  themselves when navigating medical care?
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  Dr. Ana Gowani:
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  So one example.
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  advice is that sometimes, so using a disease, process example, so,
• 10:23
  patient's with diffuse scleroderma are at higher risk for a complication
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  known as scleroderma renal crisis, which can be life-threatening.
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  This can present with severe hypertension, rapid progressive renal failure,
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  congestive heart failure, or severe.
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  anemia And so since scleroderma is rare, not all medical providers are
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  familiar with how to treat what is considered a scleroderma emergency.
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  So, for these patient's, scleroderma renal crisis prevention card can
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  actually be given to patient's with, diffuse scleroderma to
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  carry with them in their wallet.
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  This can describe, you know, the warning signs of new onset scleroderma renal
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  crisis, such as new headaches, blurred vision, abrupt elevations in blood
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  pressure, shortness of breath, et cetera.
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  And it's a card that the patient can give to emergency room physicians to
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  explain what may be happening to them.
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  And describes the best treatment course, which is an ACE inhibitor, And so This
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  is just one strategy for a particular group of patient's with a rare autoimmune
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  disease designed to help improve health outcomes and help patient's advocate
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  for appropriate treatment early.
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  Caitlin Whyte (Host): And to close it out for us today.
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  Doctor, what advice?
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  Would you give patient's on improving quality of life while
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  living with an autoimmune disorder?
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  Dr. Ana Gowani:
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  for a lot of my patient's will say to just take it one day at a time.
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  a lot of times at the beginning of treatment of an autoimmune disease
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  such as rheumatoid arthritis, there are a lot of moving parts in terms of
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  starting new medications, obtaining screening labs or other tests.
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  I think it's important to try and take it one day at a time.
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  Otherwise it can become very overwhelming.
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  there is a lot in autoimmune disease as well That is out of the patient's control.
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  However, it is also important to try and take control of the
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  factors you can control to help improve your autoimmune disease.
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  For example, working on quitting smoking, trying to follow a healthy Mediterranean
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  based sort of low processed food diet.
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  Taking medications as prescribed, trying to practice good sleep habits
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  at night, promote, good sleep, such as reducing screen time and trying to
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  participate in exercise for at least 30 minutes a day, five times a week.
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  Caitlin Whyte (Host): That was Dr.
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  Ana ANI.
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  I.
• 12:34
  For more information, please go to prisma health.org/flourish.
• 12:38
  If you enjoyed this podcast, please share it on your social channels and
• 12:42
  explore our entire podcast library.
• 12:45
  For more topics of interest, I'm Caitlyn White and This is Flourish.
• 12:49
  Thank you for.