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]
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
editAn 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:
- Fibromyalgia[9]
- Adult-onset Still's disease[10]
- Behçet's disease[11]
- Bell's palsy[12]
- Burning mouth syndrome[13]
- Chronic recurrent multifocal osteomyelitis[14]
- Long COVID[15]
- Inappropriate sinus tachycardia[16]
- Psychogenic polydipsia[17]
- Schizophrenia[18]
- Somatic symptom disorder[19]
- Sudden infant death syndrome[20]
- Tolosa–Hunt syndrome[21]
- Systemic-onset juvenile idiopathic arthritis[22]
See also
editReferences
edit- ^ "The Diagnosis of Exclusion". PM Pediatric Care. 2019-06-13. Retrieved 2024-11-13.
- ^ 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.
- ^ 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. ISBN 978-90-481-9484-1. ISSN 0065-2598. PMID 20824449.
- ^ 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. doi:10.3389/fpsyt.2023.1098292. ISSN 1664-0640. PMC 9947477. PMID 36846217.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "Behcet Disease: Overview – eMedicine Dermatology". Retrieved 2009-03-28.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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) - ^ Oliver Freudenreich, M. D. (3 December 2012). "Differential Diagnosis of Psychotic Symptoms: Medical "Mimics"". Psychiatric Times. 27.
- ^ 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.
- ^ Kim, Hoon; Pearson-Shaver, Anthony L. (2023-07-24). "Sudden Infant Death Syndrome". StatPearls Publishing. PMID 32809642. Retrieved 2024-03-13.
- ^ 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.
- ^ 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.