Diagnosis of exclusion

Last updated

A diagnosis of exclusion or by exclusion (per exclusionem) is a diagnosis of a medical condition reached by a process of elimination, which may be necessary if presence cannot be established with complete confidence from history, examination or testing. Such elimination of other reasonable possibilities is a major component in performing a differential diagnosis. [1]

Contents

Diagnosis by exclusion tends to occur where scientific knowledge is scarce, specifically where the means to verify a diagnosis by an objective method is absent. It can also commonly occur where objective diagnostic tests do exist, but extensive diagnostic testing or sufficient exploration of differential diagnosis by a multidisciplinary team is not undertaken due to financial constraints or assessment bias (health inequity). [2] [3] [4] [5] [6]

The largest category of diagnosis by exclusion is seen among psychiatric disorders where the presence of physical or organic disease must be excluded as a prerequisite for making a functional diagnosis. [7] [8]

Examples

An example of such a diagnosis is "fever of unknown origin": to explain the cause of elevated temperature the most common causes of unexplained fever (infection, neoplasm, or collagen vascular disease) must be ruled out.

Other examples include:

See also

References

  1. "The Diagnosis of Exclusion". PM Pediatric Care. 2019-06-13. Retrieved 2024-11-13.
  2. Fred, Herbert L. (2013). "The diagnosis of exclusion: an ongoing uncertainty". Texas Heart Institute Journal. 40 (4): 379–381. ISSN   1526-6702. PMC   3783127 . PMID   24082363.
  3. Kole, Anna; Faurisson, François (2010). "Rare diseases social epidemiology: analysis of inequalities". Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology. Vol. 686. pp. 223–250. doi:10.1007/978-90-481-9485-8_14 (inactive 17 July 2025). ISBN   978-90-481-9484-1. ISSN   0065-2598. PMID   20824449.{{cite book}}: CS1 maint: DOI inactive as of July 2025 (link)
  4. Faber, Sonya C.; Khanna Roy, Anjalika; Michaels, Timothy I.; Williams, Monnica T. (2023-02-09). "The weaponization of medicine: Early psychosis in the Black community and the need for racially informed mental healthcare". Frontiers in Psychiatry. 14 1098292. doi: 10.3389/fpsyt.2023.1098292 . ISSN   1664-0640. PMC   9947477 . PMID   36846217.
  5. Scalco, Renata Siciliani; Morrow, Jasper M.; Booth, Suzanne; Chatfield, Sherryl; Godfrey, Richard; Quinlivan, Ros (September 2017). "Misdiagnosis is an important factor for diagnostic delay in McArdle disease". Neuromuscular Disorders. 27 (9): 852–855. doi: 10.1016/j.nmd.2017.04.013 . ISSN   0960-8966. PMID   28629675.
  6. Shattock, Lucy; Williamson, Holly; Caldwell, Kim; Anderson, Kate; Peters, Sarah (May 2013). "'They've just got symptoms without science': Medical trainees' acquisition of negative attitudes towards patients with medically unexplained symptoms". Patient Education and Counseling. 91 (2): 249–254. doi:10.1016/j.pec.2012.12.015. ISSN   1873-5134. PMID   23369375.
  7. Jutel, Annemarie (2010-11-01). "Medically unexplained symptoms and the disease label". Social Theory & Health. 8 (3): 229–245. doi:10.1057/sth.2009.21. ISSN   1477-822X.
  8. Merten, Eva Charlotte; Cwik, Jan Christopher; Margraf, Jürgen; Schneider, Silvia (2017-01-17). "Overdiagnosis of mental disorders in children and adolescents (in developed countries)". Child and Adolescent Psychiatry and Mental Health. 11 (1): 5. doi: 10.1186/s13034-016-0140-5 . ISSN   1753-2000. PMC   5240230 . PMID   28105068. …a diagnostic dilemma unique to mental disorders. Unlike somatic disorders, mental disorders cannot be detected by genetic, neuronal, or physiological correlates.
  9. Qureshi, Aniqa G; Jha, Saurav K; Iskander, John; Avanthika, Chaithanya; Jhaveri, Sharan; Patel, Vithi Hitendra; Rasagna Potini, Bhuvana; Talha Azam, Ahmad (2021-10-11). "Diagnostic Challenges and Management of Fibromyalgia". Cureus. 13 (10). Springer Science and Business Media LLC: e18692. doi: 10.7759/cureus.18692 . ISSN   2168-8184. PMC   8580749 . PMID   34786265.{{cite journal}}: CS1 maint: article number as page number (link)
  10. Akkara Veetil BM, Yee AH, Warrington KJ, Aksamit AJ Jr, Mason TG (December 2012). "Aseptic meningitis in adult onset Still's disease". Rheumatol Int. 32 (12): 4031–4034. doi:10.1007/s00296-010-1529-8. PMID   20495923. S2CID   19431424.
  11. "Behcet Disease: Overview – eMedicine Dermatology" . Retrieved 2009-03-28.
  12. Petruzzelli GJ, Hirsch BE (August 1991). "Bell's palsy. A diagnosis of exclusion". Postgraduate Medicine. 90 (2): 115–118, 121–122, 125–127. doi:10.1080/00325481.1991.11701011. PMID   1862038.
  13. Maltsman-Tseikhin A, Moricca P, Niv D (June 2007). "Burning mouth syndrome: will better understanding yield better management?". Pain Practice. 7 (2): 151–162. doi:10.1111/j.1533-2500.2007.00124.x. PMID   17559486. S2CID   4820793.
  14. Ferguson B, Gryfe D, Hsu W (December 2013). "Chronic recurrent multifocal osteomyelitis in a 13 year old female athlete: a case report". The Journal of the Canadian Chiropractic Association. 57 (4): 334–340. PMC   3845477 . PMID   24302781.
  15. Leviner, Sherry (7 May 2021). "Recognizing the Clinical Sequelae of COVID-19 in Adults: COVID-19 Long-Haulers". The Journal for Nurse Practitioners. 17 (8): 946–949. doi:10.1016/j.nurpra.2021.05.003. ISSN   1555-4155. PMC   8103144 . PMID   33976591.
  16. Ahmed, Adnan; Pothineni, Naga Venkata K.; Charate, Rishi; Garg, Jalaj; Elbey, Mehmet; de Asmundis, Carlo; LaMeir, Mark; Romeya, Ahmed; Shivamurthy, Poojita; Olshansky, Brian; Russo, Andrea; Gopinathannair, Rakesh; Lakkireddy, Dhanunjaya (2022-06-21). "Inappropriate Sinus Tachycardia: Etiology, Pathophysiology, and Management: JACC Review Topic of the Week". Journal of the American College of Cardiology. 79 (24): 2450–2462. doi: 10.1016/j.jacc.2022.04.019 . ISSN   0735-1097. PMID   35710196.
  17. Prince, Jim McMorran, Damian Crowther, Stew McMorran, Steve Youngmin, Ian Wacogne, Jon Pleat, Clive. "primary polydipsia – General Practice Notebook". www.gpnotebook.co.uk. Retrieved 2016-11-22.{{cite web}}: CS1 maint: multiple names: authors list (link)
  18. Oliver Freudenreich, M. D. (3 December 2012). "Differential Diagnosis of Psychotic Symptoms: Medical "Mimics"". Psychiatric Times. 27.
  19. Henningsen, Peter (March 2018). "Management of somatic symptom disorder". Dialogues in Clinical Neuroscience. 20 (1): 23–31. doi:10.31887/DCNS.2018.20.1/phenningsen. ISSN   1294-8322. PMC   6016049 . PMID   29946208.
  20. Kim, Hoon; Pearson-Shaver, Anthony L. (2023-07-24). "Sudden Infant Death Syndrome". StatPearls Publishing. PMID   32809642 . Retrieved 2024-03-13.
  21. "TOS Outreach Network". www.tosoutreach.com. 2022. Retrieved 2025-07-19.
  22. Kwan ES, Wolpert SM, Hedges TR, Laucella M (February 1988). "Tolosa-Hunt syndrome revisited: not necessarily a diagnosis of exclusion". AJR. American Journal of Roentgenology. 150 (2): 413–418. doi:10.2214/ajr.150.2.413. PMID   3257334. S2CID   32214113.
  23. De Benedetti, Fabrizio; Schneider, Rayfel (2016). "Systemic Juvenile Idiopathic Arthritis". Textbook of Pediatric Rheumatology. Elsevier. p. 205–216.e6. doi:10.1016/b978-0-323-24145-8.00016-8. ISBN   978-0-323-24145-8.