It was just another normal day of shadowing Dr. C until he received a phone call from his colleague at Cambridge University. After the call, Dr. C told me his colleague is currently getting sued for a misdiagnosis that put the patient in a critical condition. How could a doctor make a mistake such as this? Well, the patient came in with symptoms similar to cancer such as lumps formed, extreme fatigue, trouble with ingestion, and joint pain. The doctor ordered an MRI because he thought these symptoms were similar to bone cancer. The test result showed tumor-like growth in different areas of the body and surgery was scheduled. On the day of surgery, the nurse got ready to administer a midazolam injection which is used before surgery to produce sleepiness, drowsiness, and relieve anxiety before a patient goes into surgery. An unexpected response came as the patient began to scream and yell in pain after the needle dug into his skin. What exactly happened here? The expected bone cancer was in fact fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva (FOP) is a rare disabling genetic condition of congenital skeletal malformation and heterotopic ossification (HO) and FOP is the most catastrophic HO in humans (Kaplan, 2008). In other words, FOP is a disease that can ossify soft tissue and impair movement throughout the body. FOP is spontaneous and flare-ups of soft tissue into bone can happen at any time if someone carries the gene for FOP (Akesson, 2020). The unique feature of FOP is that it can happen spontaneously from traumatic events and when inflammation response is activated (Shore, 2013). The prevalence of FOP is approximately 1/2,000,000 with 25.6% of the cases being in the US (Zijuan, 2017), but the UK has a prevalence of 0.61 per million. Additionally, there are no treatments for FOP since needles, incisions, or anything involving inflammation can expedite the ossification. After all this information, who is to blame? The doctor only wanted the best (beneficence) and do no harm (non malfeasance) to the patient and went ahead with the surgery after running an MRI. This was the longest ethical talk I had with a doctor I shadowed and couldn’t blame anyone, but why is it that the doctor is the only one at fault? Misdiagnosis is a growing problem in the US and I personally believe no one is at fault.
References:
Qi, Z., Luan, J., Zhou, X., Cui, Y., & Han, J. (2017). Fibrodysplasia ossificans progressiva: Basic understanding and experimental models. Intractable & rare diseases research, 6(4), 242–248. https://doi.org/10.5582/irdr.2017.01055
Kaplan, F. S., Le Merrer, M., Glaser, D. L., Pignolo, R. J., Goldsby, R. E., Kitterman, J. A., Groppe, J., & Shore, E. M. (2008). Fibrodysplasia ossificans progressiva. Best practice & research. Clinical rheumatology, 22(1), 191–205. https://doi.org/10.1016/j.berh.2007.11.007
Akesson LS, Savarirayan R. Fibrodysplasia Ossificans Progressiva. 2020 Jun 11. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558090/
Shore
E. M. (2012). Fibrodysplasia ossificans progressiva: a human genetic disorder
of extraskeletal bone formation, or--how does one tissue become another?. Wiley
interdisciplinary reviews. Developmental biology, 1(1),
153–165. https://doi.org/10.1002/wdev.9
I agree with you that you can't shift the fault onto the doctor in this case. I found a paper on PubMed that talks about the FOP and the misdiagnosis of it (Pignolo et al., 2013) and explains that FOP is commonly misdiagnosed by clinicians. In fact, 90% of FOP patients are misdiagnosed worldwide given the rapid development of the soft tissue swellings. Doctors should strive to learn more about rare and new diseases, but I don't think complete blame can be shifted onto them when there is a misdiagnosis of a condition such as FOP.
ReplyDeletePignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2(0 2):437-48. PMID: 23858627; PMCID: PMC3995352.