Using a Multidisciplinary Approach to Reach an Unexpected Diagnosis in a Patient With Juvenile Ankylosing Spondylitis
Case Report Insights are in-depth interviews that take you inside the diagnosis with clinicians who recently published a Consultant case report.
In this Case Report Insights, Cole Fiedler, BS, speaks about his team’s study, ”An Unexpected Outcome in an Adolescent With Juvenile Ankylosing Spondylitis." Cole Fiedler discusses what led to the diagnosis in this case, the multidisciplinary approach used to diagnose and treat the patient, and what other clinicians can take away from this case.
Additional Resource:
Fiedler CR, Soylu L. An unexpected outcome in an adolescent with juvenile ankylosing spondylitis. Consultant. 2024;64(2):e1. doi:10.25270/con.2024.01.000005
To read the full case report, visit the What's Your Diagnosis?
TRANSCRIPTION:
Cole R. Fiedler, BS: Hi, my name's Cole Fiedler. I'm a 3rd year medical student at the University of South Florida Health Morsani College of Medicine in Tampa, Florida.
Consultant360: How did you approach this case and did your approach change during the patient’s continuum of care?
Cole Fiedler: The patient had already been established with our clinic for a few years, prior to the current case. He had a known 7-year diagnosis of juvenile ankylosing spondylitis (JAS) or JAS HLA-B27 positive for which he was being followed with our pediatric team and also rheumatology. Over these 7 years, he had chronic primarily right hip pain that we were treating with anti-inflammatories, specifically indomethacin. So when he presented to our clinic with right hip pain, we at first kind of just assumed it was an exacerbation of his known and JAS. His prior flares in the past were always presenting with hip pain, kind of some stiffness, limping, and these are not atypical of JAS. So given this longstanding diagnosis, our initial assumption was it was an exacerbation and we treated it accordingly. He presented a few days later and he still had this persistent pain, and that's when we began to start considering alternative diagnoses. Some things we thought about were transient synovitis slipped capital femoral epiphysis with possible avascular necrosis. However, we ended up ruling these out given his presentation, the physical exam, some lab work we did, although we did still suspect that there was something more going on.
C360: Initially, the radiology team came back to your team saying that the patient was negative for signs of fracture. What was your reasoning for rereading the X-ray? Was there something that stuck out to you to review the X-ray again?
Cole Fiedler: The acute diagnosis on hand ended up being a femoral neck fracture, which was confirmed by hip X-ray, and then follow-up MRI, which further confirmed the fracture. These imaging studies are what led us to ultimately realized that it was a fracture rather than some inflammatory or infectious process or malignancy. The patient did have a history of fractures, though vertebral fractures in the past, which seemed a little atypical for his known JAS, and that's when we started to kind of consider alternative diagnoses. Our next step was a workup with labs, which were overall pretty unremarkable. And after consulting with rheumatology, we thought that the next best step was to get a gene panel and consider genetic causes. So a bone fragility gene panel was ordered, and actually, while we were awaiting the results of that, the patient suffered another fracture of his tibia, and that's when we really started to say, "Okay, there's something more going on than just his JAS here." After some time, we got the results of the genetic panel back and our patient had a variant of COL1A2, which is a gene associated with osteogenesis imperfecta. And then that's when we came to our final diagnosis and said, okay, our patient has osteogenesis imperfecta. We knew that this couldn't have just been his JAS. Kind of interestingly we tested, although not super surprising, we tested a few of his family members and they were also found to be positive for these genetic variants.
C360: In this case, the patient didn’t have several notable symptoms. When you are taking care of a patient who presents with few symptoms, how do determine, not only the diagnosis but what tests to consider and whom to consult?
Cole Fiedler: The first impression of the hip X-ray that we received was negative for fracture. The decision to review it was actually made by my mentor, Dr. Soylu, who is the pediatrician in charge of this case, and she made this decision based on her own clinical judgment and the patient's presentation, which just didn't seem to fit with the results of the X-ray and what was going on with the patient. So, even though there was no fracture noted on X-ray, our team reviewed it and we thought that there's potentially something here, let's ask radiology to take another look. So radiology took another look and they ended up saying that, "Yeah, there is a fracture. We see a fracture, let's get an MRI just for confirmation to really pinpoint what's going on." I do want to thank our radiology colleagues for their help with this. Without their close support and collaboration with our team, we would really likely have not reached this final diagnosis. And this kind of just goes to show how high quality health care requires a team approach and everyone contributing and supporting each other to provide the best care for our patients.
C360: What aspect of this case made you either question or helped solidify your clinical assumptions?
Cole Fiedler: So aspects of this case that made me question the underlying diagnosis was the patient's presentation and his past medical history of fractures. While JAS can present with hip pain, stiffness, limping, inability to bear weight is a little atypical for this diagnosis. And so that's kind of when we were thinking there's something more going on here. After the fact, after we had already established our diagnosis of osteogenesis imperfecta got the gene panel back, and while I was writing up this report, I did a literature review of some common fractures and pediatric patients with JAS and OI or osteogenesis imperfecta. The studies that I found seem to suggest that extremity fractures are a bit more common in patients with osteogenesis imperfecta. While they're a bit less common in patients with JAS. This is not to say that this is true for every case, but the studies and the reports that I found did seem to imply that vertebral fractures can be seen in JAS, extremity fractures are a bit less common and extremity fractures are more often presenting for OI, and this actually fits the clinical picture we saw with our patient.
C360: Can you describe the moment when you knew you had the diagnosis and how you concluded that this was the diagnosis?
Cole Fiedler: So situations like these really require creating a broad differential and employing a team of varied specialists. We reached our final diagnosis with the help of rheumatology, radiology, genetics among other providers who all contributed in coming into this. And this again highlights why specialization within medicine and collaboration among teams is so important for coming to diagnoses because it is impossible to know every diagnosis and know every presenting symptom and be able to diagnose everything perfectly. So this team effort really helped us and having input from other providers—rheumatology, genetics—helped us order the right tests and look at the right studies to reach our final diagnosis.
C360: What did you learn from this case and what can other clinicians take away from it?
Cole Fiedler: Probably my biggest takeaway from this case was the importance of keeping a broad differential when you see a patient, especially if they're a long-term patient, a recurrent patient with an established diagnosis. Our patient in question had a 7-year diagnosis of juvenile ankylosing spondylitis. He presented many times to our clinic with hip pain. We usually treated with indomethacin, and he got better. So when he came in for the current visit, it was our initial impression to say, "Oh, this was JAS again. Let's treat it accordingly how we have been treating it in the past." So it's very easy to fall into the trap of attributing new symptoms or new complaints, especially if they're similar complaints to prior complaints, it's easy to attribute these to establish diagnosis. But it's really important to treat each visit independently and individually so as to not miss something more insidious or discover something new going on with the patient. If we hadn't decided to investigate this further, there likely could have been more fractures or more complications in our patient, which could have required more surgeries, cost the patient and his family more money, and have an emotional and physical toll on our patient. So our decision with the help of other providers to investigate this further, I think was very important in the treatment of our patient.
Also, this allowed us to get him the appropriate therapies to treat his osteogenesis imperfecta, new modalities such as bisphosphonates, and then also screenings like yearly DEXA scans and regular audiology evaluations. Another important takeaway from this case is the importance and emergence in utility of genetics in diagnosing patients. Our genetic panel ultimately gave us our final diagnosis, which pinpointed what we had to treat and what we needed to do moving forward. Actually, this week in clinic, I also had a patient with a rare genetic syndrome, and it would've been very, very difficult to establish this diagnosis without genetics' help. And I think it's very exciting that genetics are going to play a big role in the future of medicine, and I think it'll be great for our patients because it'll allow us to provide accurate diagnoses and determine the best course of treatment and management.
Cole Fiedler: Yeah, so thank you everyone for listening to this video and reading our report. I want to thank Dr. Soylu, my mentor on this case, and I want thank USF Health Morsani College of Medicine for their support and supporting me through medical school and guiding me and teaching me everything I know. I want to thank the radiologists, the rheumatologists, everyone else who had helped on this case, and I want to thank Consultant for publishing this for me and giving me an opportunity to share this story.