Impact of RBC Disorders on Patient QoL

Biree Andemariam, MD: Matt, for some of the complications that we’ve alluded to in this discussion, in terms of patients with sickle cell disease who have inherently unhealthy red blood cells for a number of reasons, how does this affect the patient’s quality of life?

Matthew M. Heeney, MD: In sickle cell disease, when you think about the major symptoms and consequences, we think about frequent pain that disables you in a way that you’re unable to do your activities of daily living: to go to school or work. That can wreak havoc on your quality of life in terms of the things you want to be, your dreams, and your aspirations. That can have a huge effect on day-to-day quality of life, moods, etc. There’s a huge impact on that. Unpredictability of those events interferes with one’s hopes, dreams, and aspirations.

More chronically, this is a hemolytic anemia. Patients often have a low-baseline hemoglobin, with exertional fatigue, which an inability to do what they need to do or want to do. Some may need to limit themselves from what they see their peers doing. All of that has a way of singling you out as a child. As an adult, you may be completely able 95% of the time but 100% disabled 5% of the time. Unfortunately, that doesn’t meet most definitions of disability. [When we think of disability, we think of a] transected spinal cord, which is very static. [Sickle cell disease] is much more dynamic. It doesn’t meet many definitions of disability and, therefore, sometimes doesn’t get the support it needs. All these things can accumulate into the quality of life.

But these aren’t unique to sickle cell disease. Other diseases, such as the thalassemia, require chronic transfusion. [That means] missing work or school 1 or 2 days a month and the need for chelation for iron therapy. They are things also seen in sickle cell disease. If you’re not able to take 1 of the oral chelators, then you need to do daily subcutaneous infusion. All these things interfere with what 1 would consider a normal life or a normal trajectory of goals and aspirations. That can have a deleterious effect on quality of life and happiness overall. I’m sure you have eloquent descriptions.

Biree Andemariam, MD: I agree with you 100%, Matt. When we talk about the agents, we have to treat patients and those that may be emerging and able to be prescribed in the future, our patients are telling us and families—with respect to children with sickle cell disease—that they want to feel better. They want outcomes that measure quality of life: fatigue, sleep, mood, the ability to maintain their educational, professional, and relationship goals. These are important markers of overall health, not just red blood cell health. But maybe there’s a relationship there. I agree with you 100%. Nirmish and Elna, is there anything else you might want to add regarding quality of life and sickle cell disease?

Nirmish Shah, MD: When I enter a patient’s room, the first thing I do is not talk about pain. I talk about everything else going on in that patient’s life: what’s happening in school, what’s happening at work, how their boyfriend or girlfriend is doing, are they traveling. I try to focus on everything else going on in that patient’s life to get [a sense of that patient’s] quality of life. Are they having issues with school? Are they missing days that are technically not related to pain crisis but having fatigue issues that are leading to difficulties that we need to address? The focus on quality of life needs to happen because it influences every aspect of their life.

The numbers for PTSD, anxiety, depression, and mental health are so high in this population that it’s shocking. The rates of thinking about or attempting suicide are 1 in 11 to 1 in 13. It’s striking that we’re focused mostly on pain discussions, sometimes with medicine. But as a sickle cell community, we’ve started to pivot and rightfully focus on the quality of life for patients. I’m glad we’re trying focus on that.

Elna Saah, MD: I agree. As pediatricians, we’re guilty as charged. We focus more on missed school days, pain, and whether you come to the hospital. We’ve created a culture in we always start the conversation with, “Give me a number. What’s your pain number?” But we forget that assessing the functional ability and quality of the, regardless of the individual is in front of you, is more important as we move on to functionalities analysis. As pediatricians, we don’t approach or address the fatigue question as a lot of adult providers do. When you treat adults, 1 of the top 5 things patients bring up is the degree of fatigue. We indirectly analyze a child’s degree of function of quality: “Are you able to play? Do you go outside and hoop with your friends?” How limited are their daily activities or desires hampered? You have to think about it when a child would just get up and go. It’s very important. We should shift and get more of that into end points [of our studies], not just number of the OCDs [obsessive-compulsive disorders] and using validated functional analyses. Any improvement of quality of life is very important, and we’re beginning to do that.

Nirmish Shah, MD: Elna, your point about fatigue is interesting. If you ask a patient if they’re tired, they’re normalized to that. They’re used to feeling tired. It’s always trying to bring up something relative to it. “Can you keep up with your friends when you’re playing basketball? Do you stop earlier than your friends?” When you ask it that way, they’re like, “I have to take more breaks.” Otherwise, they’re like, “I’m fine, Dr Shah. I can get around. I can do whatever I need to do.” They always normalize it. Not until we improve on that do they look back and say, “You know what? Looking back, I have much more energy.” Thus, fatigue is a good point to bring up.

Transcript edited for clarity