Diagnosis of exclusion explained

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

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

Notes and References

  1. Web site: 2019-06-13 . The Diagnosis of Exclusion . 2024-11-13 . PM Pediatric Care . en-US.
  2. Fred . Herbert L. . 2013 . The diagnosis of exclusion: an ongoing uncertainty . Texas Heart Institute Journal . 40 . 4 . 379–381 . 1526-6702 . 3783127 . 24082363.
  3. Book: Kole . Anna . Faurisson . François . Rare Diseases Epidemiology . 2010 . Rare diseases social epidemiology: analysis of inequalities . https://pubmed.ncbi.nlm.nih.gov/20824449/ . Advances in Experimental Medicine and Biology . 686 . 223–250 . 10.1007/978-90-481-9485-8_14 . 0065-2598 . 20824449. 978-90-481-9484-1 .
  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 . English . 14 . 10.3389/fpsyt.2023.1098292 . free . 1664-0640 . 9947477 . 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 . 10.1016/j.nmd.2017.04.013 . 28629675 . 0960-8966.
  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 . 10.1016/j.pec.2012.12.015 . 1873-5134 . 23369375.
  7. Jutel . Annemarie . 2010-11-01 . Medically unexplained symptoms and the disease label . Social Theory & Health . en . 8 . 3 . 229–245 . 10.1057/sth.2009.21 . 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 . 10.1186/s13034-016-0140-5 . free . 1753-2000 . 5240230 . 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 . Diagnostic Challenges and Management of Fibromyalgia . Cureus . Springer Science and Business Media LLC . 2021-10-11 . 13 . 10 . e18692 . 2168-8184 . 10.7759/cureus.18692 . free . 34786265 . 8580749 .
  10. Akkara Veetil BM, Yee AH, Warrington KJ, ((Aksamit AJ Jr)), Mason TG. Aseptic meningitis in adult onset Still's disease. Rheumatol Int. December 2012. 32. 12. 4031–4034. 20495923. 10.1007/s00296-010-1529-8. 19431424.
  11. Web site: Behcet Disease: Overview – eMedicine Dermatology . 2009-03-28.
  12. Petruzzelli GJ, Hirsch BE . Bell's palsy. A diagnosis of exclusion . Postgraduate Medicine . 90 . 2 . 115–118, 121–122, 125–127 . August 1991 . 1862038 . 10.1080/00325481.1991.11701011 .
  13. Maltsman-Tseikhin A, Moricca P, Niv D . 4820793 . Burning mouth syndrome: will better understanding yield better management? . Pain Practice . 7 . 2 . 151–162 . June 2007 . 17559486 . 10.1111/j.1533-2500.2007.00124.x .
  14. Ferguson B, Gryfe D, Hsu W . 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 . December 2013 . 24302781 . 3845477 .
  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. 10.1016/j.nurpra.2021.05.003. 1555-4155. 8103144. 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 . 10.1016/j.jacc.2022.04.019 . 35710196 . 0735-1097.
  17. Web site: primary polydipsia – General Practice Notebook. Prince. Jim McMorran, Damian Crowther, Stew McMorran, Steve Youngmin, Ian Wacogne, Jon Pleat, Clive. www.gpnotebook.co.uk. 2016-11-22.
  18. Oliver Freudenreich . M. D. . Differential Diagnosis of Psychotic Symptoms: Medical "Mimics" . Psychiatric Times . 3 December 2012 . 27 . en.
  19. Henningsen. Peter. March 2018. Management of somatic symptom disorder. Dialogues in Clinical Neuroscience. 20. 1. 23–31. 10.31887/DCNS.2018.20.1/phenningsen. 1294-8322. 6016049. 29946208.
  20. Web site: Kim . Hoon . Pearson-Shaver . Anthony L. . Sudden Infant Death Syndrome . StatPearls Publishing . 2023-07-24 . 32809642 . 2024-03-13.
  21. Kwan ES, Wolpert SM, Hedges TR, Laucella M . Tolosa-Hunt syndrome revisited: not necessarily a diagnosis of exclusion . AJR. American Journal of Roentgenology . 150 . 2 . 413–418 . February 1988 . 3257334 . 10.2214/ajr.150.2.413 . 32214113 .
  22. Book: De Benedetti . Fabrizio . Schneider . Rayfel . Textbook of Pediatric Rheumatology . Systemic Juvenile Idiopathic Arthritis . Elsevier . 2016 . 978-0-323-24145-8 . 10.1016/b978-0-323-24145-8.00016-8 . 205–216.e6.