Lessons in clinical reasoning – pitfalls, myths, and pearls: a woman brought to a halt

Austin Rezigh; Alec Rezigh; Stephanie Sherman

doi:10.1515/dx-2023-0162

Article

Lessons in clinical reasoning – pitfalls, myths, and pearls: a woman brought to a halt

Austin Rezigh , Alec Rezigh and Stephanie Sherman

Published/Copyright: February 9, 2024

Published by

Become an author with De Gruyter Brill

Submit Manuscript Author Information Explore this Subject

From the journal Diagnosis Volume 11 Issue 2

Abstract

Objectives

Limitations in human cognition commonly result in clinical reasoning failures that can lead to diagnostic errors. A metacognitive structured reflection on what clinical findings fit and/or do not fit with a diagnosis, as well as how discordance of data can help advance the reasoning process, may reduce such errors.

Case presentation

A 60-year-old woman with Hashimoto thyroiditis, diabetes, and generalized anxiety disorder presented with diffuse arthralgias and myalgias. She had been evaluated by physicians of various specialties and undergone multiple modalities of imaging, as well as a electromyography/nerve conduction study (EMG/NCS), leading to diagnoses of fibromyalgia, osteoarthritis, and lumbosacral plexopathy. Despite treatment for these conditions, she experienced persistent functional decline. The only definitive alleviation of her symptoms identified was in the few days following intra-articular steroid injections for osteoarthritis. On presentation to our institution, she appeared fit with a normal BMI. She was a long-time athlete and had been training consistently until her symptoms began. Prediabetes had been diagnosed the year prior and her A_1c progressed despite lifestyle modifications and 10 pounds of intentional weight loss. She reported fatigue, intermittent nausea without emesis, and reduced appetite. Examination revealed intact strength and range of motion in both the shoulders and hips, though testing elicited pain. She had symmetric hyperreflexia as well as a slowed, rigid gait. Autoantibody testing revealed strongly positive serum GAD-65 antibodies which were confirmed in the CSF. A diagnosis of stiff-person syndrome was made. She had an incomplete response to first-line therapy with high-dose benzodiazepines. IVIg was initiated with excellent response and symptom resolution.

Conclusions

Through integrated commentary on the diagnostic reasoning process from clinical reasoning experts, this case underscores the importance of frequent assessment of fit along with explicit explanation of dissonant features in order to avoid misdiagnosis and halt diagnostic inertia. A fishbone diagram is provided to visually demonstrate the major factors that contributed to the diagnostic error. The case discussant demonstrates the power of iterative reasoning, case progression without commitment to a single diagnosis, and the dangers of both explicit and implicit bias. Finally, this case provides clinical teaching points in addition to a pitfall, myth, and pearl specific to overcoming diagnostic inertia.

Keywords: clinical reasoning; stiff-person syndrome; diagnostic inertia; diagnostic foothold; problem representation

Corresponding author: Austin Rezigh, MD, Department of Medicine, University of Texas Health Science Center San Antonio, San Antonio, TX, USA, E-mail: rezigh@uthscsa.edu

Research ethics: Not applicable.
Informed consent: Not applicable.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

References

1. Cammarata, M, Dhaliwal, G. Diagnostic schemas: form and function. J Gen Intern Med 2023;38:513–6. https://doi.org/10.1007/s11606-022-07935-1.Search in Google Scholar PubMed PubMed Central

2. Bowen, JL, ten Cate, O. Prerequisites for learning clinical reasoning. In: ten Cate, O, Custers, EJFM, Durning, SJ, editors. Principles and practice of case-based clinical reasoning education: a method for preclinical students [Internet]. Cham: Springer; 2018, Chapter 4. Available from: https://www.ncbi.nlm.nih.gov/books/NBK543761/.10.1007/978-3-319-64828-6_4Search in Google Scholar PubMed

3. Rezigh, A, Garza-Garcia, GA, Minter, D, Shekarchian, S. Mirror mirror: an exercise in clinical reasoning. J Gen Intern Med 2023;38:228–32. https://doi.org/10.1007/s11606-022-07820-x.Search in Google Scholar PubMed PubMed Central

4. Anchoring bias with critical implications. PSNet. Agency for Healthcare Research and Quality. Available from: https://psnet.ahrq.gov1.Search in Google Scholar

5. Wolfe, F, Walitt, B, Perrot, S, Rasker, JJ, Häuser, W. Fibromyalgia diagnosis and biased assessment: sex, prevalence and bias. PLoS One 2018;13:e0203755. https://doi.org/10.1371/journal.pone.0203755.Search in Google Scholar PubMed PubMed Central

6. Mamede, S, Schmidt, HG. Deliberate reflection and clinical reasoning: founding ideas and empirical findings. Med Educ 2023;57:76–85. https://doi.org/10.1111/medu.14863.Search in Google Scholar PubMed PubMed Central

7. Morgan, DJ, Pineles, L, Owczarzak, J, Magder, L, Scherer, L, Brown, JP, et al.. Accuracy of practitioner estimates of probability of diagnosis before and after testing. JAMA Intern Med. 2021;181:747–55. https://doi.org/10.1001/jamainternmed.2021.0269.Search in Google Scholar PubMed PubMed Central

8. Thomas, I, Roberts, A, Sharma, S, Penner, J, Taddei, T. Diagnostic momentum in acute liver injury: an exercise in clinical reasoning. J Gen Intern Med. 2022;37:2861–5. https://doi.org/10.1007/s11606-022-07673-4.Search in Google Scholar PubMed PubMed Central

9. Kumar, B, Kanna, B, Kumar, S. The pitfalls of premature closure: clinical decision-making in a case of aortic dissection. Case Rep 2011;2011:bcr0820114594. https://doi.org/10.1136/bcr.08.2011.4594.Search in Google Scholar PubMed PubMed Central

10. Dalakas, MC. Stiff person syndrome: advances in pathogenesis and therapeutic interventions. Curr Treat Options Neurol 2009;11:102. https://doi.org/10.1007/s11940-009-0013-9.Search in Google Scholar PubMed

11. Shaw, PJ. Stiff-man syndrome and its variants. Lancet 1999;353:86. https://doi.org/10.1016/s0140-6736(05)76151-1.Search in Google Scholar

12. Tsiortou, P, Alexopoulos, H, Dalakas, MC. GAD antibody-spectrum disorders: progress in clinical phenotypes, immunopathogenesis and therapeutic interventions. Ther Adv Neurol Disord 2021;14:17562864211003486. https://doi.org/10.1177/17562864211003486.Search in Google Scholar PubMed PubMed Central

13. Sørgjerd, EP, Thorsby, PM, Torjesen, PA, Skorpen, F, Kvaløy, K, Grill, V. Presence of anti-GAD in a non-diabetic population of adults; time dynamics and clinical influence: results from the HUNT study. BMJ Open Diabetes Res Care 2015;3:e000076. https://doi.org/10.1136/bmjdrc-2014-000076.Search in Google Scholar PubMed PubMed Central

14. Dalakas, MC, Fujii, M, Li, M, Lutfi, B, Kyhos, J, McElroy, B. High-dose intravenous immune globulin for stiff-person syndrome. N Engl J Med 2001;345:1870. https://doi.org/10.1056/nejmoa01167.Search in Google Scholar PubMed

15. Kaplan, HM, Birnbaum, JF, Kulkarni, PA. Pursuit of “endpoint diagnoses” as a cognitive forcing strategy to avoid premature diagnostic closure. Diagnosis 2022;9:421–9. https://doi.org/10.1515/dx-2021-0046.Search in Google Scholar PubMed

16. Goldrich, M, Amit, S. Atypical presentations of illness. In: Current diagnosis & treatment Geriatrics, 3rd ed. McGraw-Hill Education; 2021. https://accessmedicine.mhmedical.com/content.aspx?bookid=2984&sectionid=250007197.Search in Google Scholar

17. Cervantes, Elena, C, Binazir, TA, O’Brien, KO, Cross, JS. Why it is not always anxiety: a tough diagnosis of stiff person syndrome. Case Rep Neurol Med 2017;2017:7431092. https://doi.org/10.1155/2017/7431092.Search in Google Scholar PubMed PubMed Central

18. Chia, NH, McKeon, A, Dalakas, MC, Flanagan, EP, Bower, JH, Klassen, BT, et al.. Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria. Ann Clin Transl Neurol 2023;10:1083–94. https://doi.org/10.1002/acn3.51791.Search in Google Scholar PubMed PubMed Central

Received: 2023-11-10

Accepted: 2024-01-19

Published Online: 2024-02-09

You are currently not able to access this content.

Articles in the same Issue

https://doi.org/10.1515/dx-2023-0162

Keywords for this article

clinical reasoning; stiff-person syndrome; diagnostic inertia; diagnostic foothold; problem representation