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Managing Sickle Cell Throughout Life · Flourish- A Prisma Health Podcast

• 0:03
  Melanie Cole, MS (Host): Welcome to Flourish: a Prisma Health podcast.
• 0:07
  I'm Melanie Cole.
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  And today, we're talking about managing sickle cell disease.
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  We have a panel for you today, and joining me is Dr.
• 0:14
  Gary Bell, he's a board-certified internal medicine physician at Prisma Health.
• 0:18
  And LaChina Moore-Hollis, she's a board-certified family nurse practitioner
• 0:22
  specializing in Internal Medicine and the care of adults at Prisma Health.
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  Thank you both so much for joining us today.
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  And Dr.
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  Bell, I'd like to start with you.
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  Can you please let the listeners know what is sickle cell disease, and how
• 0:36
  is it different when we've heard the term sickle cell anemia so many times?
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  How do they differ, and who is most at risk?
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  Dr. Gary Bell:
• 0:44
  Okay.
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  Just as some background, sickle cell disease is the most common inherited
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  red blood cell disorder in the United States, and upwards or over 100,000
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  people are affected in the United States with sickle cell disease, and
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  South Carolina has the highest rate of sickle cell disease in the US.
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  And actually, about one in 350 births are affected by sickle cell
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  disease, and one in nine births carry the sickle cell trait.
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  And sickle cell disease itself is somewhat of an umbrella term
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  for a family of blood disorders.
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  And in the US and here in the clinic, we deal mainly with four types.
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  The most common and perhaps the most severe form of sickle cell
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  disease is the SS disease, where the child or the patient has inherited
• 1:50
  one sickle gene from each parent.
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  That's the SS disease.
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  The SC, the child inherits one sickle gene from one parent and the C
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  hemoglobin gene from another parent, and they have SC disease, which if
• 2:08
  you want to say it's a milder form of sickle cell disease, you can.
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  The other two are sickle beta thal plus, where the child inherits a single S gene,
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  sickle gene from one parent and the beta thalassemia gene from the other parent.
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  And the beta thalassemia sickle cell patient, they're able to
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  make some normal hemoglobin.
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  So, it manifests itself as clinically a milder form of sickle cell disease.
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  Whereas the fourth type of sickle cell disease is the sickle beta-zero
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  thalassemia, where they don't make any normal hemoglobin, and they have
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  a similar clinical picture as the SS disease, and it's more severe.
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  Thus, with sickle cell anemia, we usually refer to the most severe types, the SS
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  and the sickle beta-zero thalassemia.
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  And you ask yourself, "Well, why is that important?"
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  It's important because we can anticipate how the disease can progress over time,
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  and we can look for the complications that form of sickle cell disease might have.
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  And if you look at, well, what population of patients are at risk for developing
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  sickle cell disease, you know, as background, we do know that the genetic
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  change that occurred with sickle cell disease occur in the areas of Western,
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  Central, and Sub-Saharan Africa, as well as those countries that border the
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  Mediterranean Sea, as well as parts of Central and South America, as well as the
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  subcontinent in Asia, particularly India.
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  And anyone coming from those areas are at increased risk for
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  developing sickle cell disease.
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  But here in the US, we know that African Americans are particularly
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  disproportionately affected.
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  And we see it more in the African American community, but we are seeing more of a
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  Hispanic population, particularly here in the Southeast, and one in 16,000
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  births in the Hispanic community can be affected by sickle cell disease.
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  That's why it's important that everyone is screened at birth regardless of their
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  background, their ethnicity or race.
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  Because early diagnosis means early treatment.
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  And that's just some background in terms of sickle cell disease itself.
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  Melanie Cole, MS: Thank you so much, Dr.
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  Bell, for giving us that background and really who is most at risk.
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  So China, tell us a little bit about the disease course itself.
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  What symptoms, complications can sickle cell disease cause?
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  LaChina Hollis: So, sickle cell disease, it can really vary
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  from individual to individual.
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  So, everyone's so different.
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  But it can cause a number of symptoms, and it's really based on the
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  abnormal red blood cells breakdown.
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  So, they break down early and they tend to be sticky, and they stick
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  together and block blood flow, and they cause pain episodes.
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  And pain is really the hallmark of sickle cell disease.
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  That's the most common symptom that occurs, and that's the symptom that really
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  leads patients to emergency departments.
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  So, pain, really, it's sudden and it can be severe, often in the
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  bones, the back, the chest, abdomen.
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  It can really occur wherever sickle cells clump together and impede blood flow.
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  Another symptom can be anemia, which can cause fatigue and weakness,
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  dizziness, pale skin, a fast heartbeat.
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  Jaundice is another symptom which can be yellowing of the eyes or skin, and it's
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  a result of the breakdown of red blood cells as well; swelling of the hands
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  and feet, this is particularly common in young children when it occurs; frequent
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  infections particularly in children because the spleen may not be functional.
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  And another symptom is delayed growth or puberty.
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  So, those are just some general symptoms.
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  Melanie Cole, MS: Well, so China, I'd like you to speak about how some of
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  these challenges change as someone moves from childhood to adulthood.
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  But what I'd also like you to mention, because you mentioned pain as being a
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  hallmark, and if somebody does end up in the ER, what would you like them to know
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  as they become an adult and can advocate for themselves about how to describe what
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  they're going through, how to let the staff know what they're going through so
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  that this can be diagnosed quickly as an episode and be treated for their pain?
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  LaChina Hollis: Childhood with sickle cell disease is typically marked by
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  infections and that particularly occurs with the loss of spleen function.
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  So, that changes as we go into adulthood or adolescence.
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  And of course, in childhood, the acute pain episodes can occur and in
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  childhood, there's a stroke risk as well.
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  So, adolescence, it's marked by an increase in the frequency of pain episodes
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  and school disruption can occur, and the patients are transitioning from
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  parent-managed care to self-managed care.
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  So usually, there can be some delay in that area.
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  Also, from a pediatric standpoint, there's more of a combined care or more
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  multiple specialties are often involved in the patient's care with pediatrics.
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  So, it's usually a little bit more involved.
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  But as they transition to adulthood, the pain can be more chronic
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  and it can be more cumulative organ damage as patients age.
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  And it typically affects the kidneys, lungs, eyes, and bones as
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  we age with sickle cell disease and often frequent hospitalizations.
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  So, you asked the question since pain is the hallmark of sickle cell
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  disease, what should patients tell providers when they present to the ER?
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  So, the main thing is if a patient has a pain plan in place, usually,
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  they know what treats their pain, what works best for their pain.
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  So, a pain plan at hand is often the best course when you go
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  into the emergency department.
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  Melanie Cole, MS: That is great advice.
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  Something really important to note.
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  Now, Dr.
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  Bell, speak a little bit about treatment.
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  What role does lifelong treatment plan play in preventing
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  some of these complications?
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  Dr. Gary Bell:
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  Well, as China said, the management of the acute pain is separate from
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  the medications that we use to sort of modify the disease process itself.
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  And right now, in the United States, there are three FDA-approved medications
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  for the treatment of sickle cell disease.
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  And the first one that came out was hydroxyurea back in—I think,
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  it was FDA approved in 1998.
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  And hydroxyurea is considered the gold standard in terms of treatment, because it
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  has shown its usefulness over the years.
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  And it's an oral medication, you take it by mouth.
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  And it's usually started at a very young age, and the goal is to address
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  the underlying issues in sickle cell disease that can cause chronic
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  problems if the disease itself is not addressed at an early age.
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  And hydroxyurea actually helps the body make more of the fetal hemoglobin.
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  That is the hemoglobin that may be present when a child is born.
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  And it keeps the red blood cells that are circulating healthier, and
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  it helps prevent them from sticking to the walls of the blood vessels.
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  And thus, as China said, causing clogging of the blood vessels, which
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  delays the delivery of oxygen to the organs and tissues, and thus
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  precipitating the painful crisis.
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  And hydroxyurea also helps cut down the level of inflammation in the
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  body as well, because we've learned over time that sickle cell disease
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  is a chronic inflammatory process.
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  So if you address inflammation, you can address sickling and pain crises.
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  And hydroxyurea as well helps keep the lining of the blood vessel itself
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  healthier and thus also decreasing the incidence of blocking those
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  blood vessels and causing the crisis.
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  Another drug that's used is called Adakveo, and Adakveo is a medication
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  that is administered by IV infusion.
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  That is the patient will come into our clinic and get a monthly
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  infusion of that medication.
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  And what Adakveo does over time is that it reduces the painful crisis in
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  terms of its severity and frequency.
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  And say, if that person goes into the hospital, Adakveo has been shown to
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  decrease the length of stay that that person has to stay in the hospital because
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  it decreases the length of the crisis.
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  It's given in the clinic and it's tolerated well by patients.
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  Adakveo works by decreasing that stickiness that we talked about,
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  that the blood cells experience prior to and after sickling.
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  The third medication is Endari, and Endari actually is a powder.
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  It's taken orally, taken twice a day and it too reduces the pain crises and reduces
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  the incidence of something called acute chest syndrome, which mimics an infection.
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  But it can be very severe in terms of debilitating and increasing the
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  length of stay in the hospital.
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  So, Endari addresses that.
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  Endari also decreases the frequency of hospitalizations and the number of
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  days stayed in the hospital as well.
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  Melanie Cole, MS: Dr.
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  Bell, can it ever be cured?
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  Dr. Gary Bell:
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  Well, the cure addresses a treatment, I think, that aims at permanently correcting
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  or bypassing the underlying genetic defect in sickle cell disease rather
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  than managing the symptoms, the painful crises, the hospitalizations, and such.
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  And right now, there are two cures for sickle cell disease, and one is
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  bone marrow or stem cell transplant.
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  And bone marrow transplants is reserved for patients with more severe sickle cell
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  disease but is also reserved for patients who are relatively healthy and don't have
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  any of the long-term organ complications that can come from chronic sickle cell
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  disease like kidney failure, chronic kidney disease, or pulmonary hypertension,
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  which is an elevated blood pressure in your lungs that can cause a dependency
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  on oxygen or congestive heart failure.
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  So, you don't want to get sickle cell disease and allow it to progress
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  till you have organ damage, which would put you out of contention for
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  a possible bone marrow transplant.
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  And with bone marrow transplant, of course, you need a donor.
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  So, the ideal donor would be a sibling-matched donor.
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  And, I think, less than 15% of the time, you find a sibling-matched donor.
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  And the other curative therapy is gene therapy, where the patient's
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  own stem cells are used to make new blood that's higher in fetal
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  hemoglobin or anti-sticking hemoglobin.
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  It's a very extensive process, gene therapy is, and it's also very expensive.
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  So, you have those limitations when it comes to curative therapy when you talk
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  about bone marrow and gene therapy.
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  Melanie Cole, MS: That's so interesting.
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  It's a very exciting time, Dr.
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  Bell.
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  That was great information.
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  Thank you.
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  Now, China, many people with sickle cell disease experience
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  gaps in care when they transition from pediatric to adult medicine.
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  Tell us a little bit about why you feel this happens and why it's so
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  important to establish that ongoing care, that continuum of care with
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  an adult sickle cell specialist.
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  LaChina Hollis: So, yes, that's actually a great question, and there are a lot
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  of studies that are out now that show that the transition from pediatric to
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  adult care is a really high-risk period.
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  And sickle cell disease is a disease that has to be managed lifelong.
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  So, it means you have to have a continuity of care.
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  So, a lot of patients become lost during this transition period
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  because they come from a really highly coordinated pediatric system.
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  Parents are involved, the appointments are scheduled, school accommodations
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  are arranged in the pediatric setting.
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  Oftentimes, you know, pediatric hematologists, they know the
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  patient from top to bottom.
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  They know the patient's history really well.
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  And so, around adolescence, you lose some patients because the patients
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  are growing up and they're less interested in healthcare at that point.
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  And so, when the patients are transitioning to young adulthood,
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  oftentimes they don't want as much care, they don't want as much involvement.
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  So, we have to really have some good programming in place to keep up with
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  their care and to force continuity.
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  So often, there are other reasons for gaps that include the transfer from familiar
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  pediatric teams to unfamiliar adult teams.
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  And also, there's some difficulty in finding hematologists that have specific
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  skill sets in sickle cell disease or expertise in sickle cell disease.
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  And another big issue, that loss of parental involvement is
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  huge because the patients become responsible for their own care.
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  They become responsible for any changes in insurance, or they
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  have losses in pediatric coverage.
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  Sometimes transportation can be an issue or employment, or when they transition
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  to college, finding programs that support sickle cell disease is hard.
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  So, mental health, social challenges, those can also be some things that
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  interfere with that transition.
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  So, you did ask about why is it important to establish
• 18:06
  with a sickle cell specialist.
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  It's really important because sickle cell disease is far more than just the
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  management of an occasional pain crisis.
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  It's really a lifelong multi-system disease that has so many complications,
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  and these complications can accumulate even when our patients aren't
• 18:29
  going through sickle cell crisis.
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  So, adult specialists can provide that continuity and proactively monitor for,
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  you know, things like kidney disease or pulmonary hypertension, retinopathy,
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  avascular necrosis, strokes, which are some of the things that can happen
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  secondary to sickle cell disease.
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  Melanie Cole, MS: Well, thank you for that.
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  So, Dr.
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  Bell, what can people do to manage the disease, reducing their risk of a crisis?
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  Speak about some common triggers and really when you feel it's important
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  that someone seek emergency care
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  Dr. Gary Bell:
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  Well, you know, here in the clinic, I think one of the things
• 19:11
  we stress is managing stress.
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  That is avoiding anything or activity that puts the body under stress.
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  And when the body is under stress, patients start to experience crisis.
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  We begin to see the effect of that blocking of blood flow
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  and oxygen to the organs.
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  And as China said, the primary manifestation of that is pain.
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  And some of the common triggers that we talk about all the
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  time, temperature changes.
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  You know, whether you're going from a warm environment into a cold
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  environment, that's enough stress to cause blood cells to sickle.
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  And we encourage patients to dress appropriately for conditions.
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  And sometimes we don't think about this.
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  Like, you can go into a restaurant on a day like today where the temperature
• 20:11
  is 95 outside, and you go into a restaurant where the temperature is
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  75, and you don't have a sweater on.
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  By the time you get home, if you're a sickle cell patient,
• 20:22
  you may go into crisis.
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  So, we encourage patients to appropriately dress, both in the winter and the summer.
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  One of the things that myself, as someone who doesn't have sickle
• 20:35
  cell disease, when you get on an airplane, they can freeze you out.
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  And if you're not prepared for that, that can cause you to have
• 20:44
  a pretty long trip or spoil a vacation or something like that.
• 20:49
  Anything that lowers the level of oxygen in your blood, say if you are
• 20:54
  a young 15, 16-year-old who's playing high school sports, and you get out
• 20:59
  on the football field and overexert yourself, you may precipitate a crisis.
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  I had a patient who recently went to Mexico and went into the mountains,
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  and that precipitated a crisis because he wasn't prepared for the lower level
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  of oxygen in the mountains, and his body reacted to that, and he went into
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  crisis while he was out of the country.
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  Another common thing that lowers oxygen levels can precipitate
• 21:31
  hospital admissions is an infection.
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  So, we try to address infections quickly because it can lead to
• 21:42
  some devastating consequences.
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  It can prolong hospitalizations.
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  And if the infection is not treated appropriately, death could result.
• 21:50
  Another thing that we try to manage and trying to get better at addressing
• 21:56
  is anxiety and depression and emotional issues that can either be
• 22:02
  precipitated by the disease itself, because again, this is a chronic
• 22:06
  disease and not only is it chronic, but it manifests itself with pain.
• 22:12
  And someone in chronic pain has to deal with depressive symptoms.
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  Life stressors in this community of patients can cause anxiety and depression.
• 22:24
  All of that affects the response of the body to that stress.
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  That's why it's important that we in the clinic, we aggressively try to get
• 22:34
  these patients plugged into behavioral health programs so that we can remove
• 22:40
  that variable in terms of stress.
• 22:43
  Melanie Cole, MS: Well, thank you for that.
• 22:44
  I'd love to give you each a chance for a final thought here.
• 22:47
  So, Dr.
• 22:48
  Bell, I would like you to offer your best advice to patients about working
• 22:54
  with their physicians on some of those exciting treatments you were discussing,
• 22:59
  on trying to follow the course of the condition and really work with
• 23:05
  those multidisciplinary specialists so that they can get the best care.
• 23:10
  Dr. Gary Bell:
• 23:10
  Well, the thing to remember in all of this is that sickle cell
• 23:14
  disease is a chronic condition.
• 23:18
  And, you know, I reflect back 35 years ago, my brother
• 23:22
  succumbed to sickle cell disease.
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  And back then, there was not the treatment modalities that we have today.
• 23:32
  You had dedicated physicians who addressed mainly pain.
• 23:37
  Now, we have different modalities that sickle cell specialists and, in
• 23:42
  some cases, primary care providers, can provide to these patients.
• 23:47
  But I think the important thing for our patients is to be
• 23:52
  educated about their disease.
• 23:54
  They know themselves better than we do.
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  They know when something very subtle means something very
• 24:02
  big in terms of their health.
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  So, getting other providers involved, whether it's the hematologist, whether
• 24:09
  it's physical therapist, whether it's behavioral therapist, it's a collaborative
• 24:15
  effort that in the end, when we're all working together as a team, we can have
• 24:20
  much better outcomes for our patients.
• 24:23
  Melanie Cole, MS: China, last word to you.
• 24:25
  I'd like you to speak now to the family members, the friends and
• 24:29
  caregivers that love these patients.
• 24:31
  How do they support someone living with sickle cell disease throughout their life?
• 24:36
  What would you like them to know about the help that's out there at Prisma Health for
• 24:41
  the entire family and the whole person?
• 24:44
  LaChina Hollis: It is really important for families to establish care with
• 24:49
  centers that are similar to the Lifespan Center that we have here at Prisma Health.
• 24:55
  So, it is exactly what it means.
• 24:58
  The Lifespan Center, we want to help patients as they age with
• 25:03
  sickle cell disease by forming that support system that they need.
• 25:07
  So, we're not there just for the patients, we're there for their families
• 25:12
  too, and providing education and having clinical staff to assist with community
• 25:18
  needs as well, connecting patients with community-based organizations just feeding
• 25:24
  into that support system that they need.
• 25:27
  Another thing is focusing on what the patient is actually going through.
• 25:33
  Believe the patient's pain.
• 25:35
  We often hear that with our patients that they don't feel as
• 25:38
  if they're heard or listened to.
• 25:40
  So, actually listening to our patients and meeting their needs, meeting our
• 25:44
  patients where they are, and helping them to manage sickle cell crisis,
• 25:49
  helping them to prevent sickle cell crisis, and helping them with their
• 25:54
  emergency plans and making our families aware of their emergency plans as well.
• 26:00
  So, just becoming an overall support system for our patients that are living
• 26:04
  with sickle cell disease is one of the most important things for our families,
• 26:09
  their friends, their caregivers, and their overall support system.
• 26:14
  Melanie Cole, MS: Thank you both so much for joining us today and
• 26:17
  really sharing your incredible expertise for our listeners.
• 26:21
  And to hear more podcasts from our experts, please visit our website
• 26:26
  at prismahealth.org/podcast.
• 26:29
  I'm Melanie Cole.
• 26:30
  And we'd like to invite our audience to download, subscribe, rate, and review
• 26:34
  Flourish: A Prisma Health Podcast on Apple Podcasts, Spotify, iHeart, and Pandora.
• 26:40
  Thank you so much for listening to Flourish: A Prisma Health Podcast.