Diagnosis of exclusion
{{short description|Medical diagnosis made by ruling out other conditions}}
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.{{Cite web |date=2019-06-13 |title=The Diagnosis of Exclusion |url=https://pmpediatriccare.com/blog/the-diagnosis-of-exclusion/ |access-date=2024-11-13 |website=PM Pediatric Care |language=en-US}}
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).{{Cite journal |last=Fred |first=Herbert L. |date=2013 |title=The diagnosis of exclusion: an ongoing uncertainty |journal=Texas Heart Institute Journal |volume=40 |issue=4 |pages=379–381 |issn=1526-6702 |pmc=3783127 |pmid=24082363}}{{Cite book |last1=Kole |first1=Anna |last2=Faurisson |first2=François |title=Rare Diseases Epidemiology |date=2010 |chapter=Rare diseases social epidemiology: analysis of inequalities |chapter-url=https://pubmed.ncbi.nlm.nih.gov/20824449/ |series=Advances in Experimental Medicine and Biology |volume=686 |pages=223–250 |doi=10.1007/978-90-481-9485-8_14 |issn=0065-2598 |pmid=20824449|isbn=978-90-481-9484-1 }}{{Cite journal |last1=Faber |first1=Sonya C. |last2=Khanna Roy |first2=Anjalika |last3=Michaels |first3=Timothy I. |last4=Williams |first4=Monnica T. |date=2023-02-09 |title=The weaponization of medicine: Early psychosis in the Black community and the need for racially informed mental healthcare |journal=Frontiers in Psychiatry |language=English |volume=14 |doi=10.3389/fpsyt.2023.1098292 |doi-access=free |issn=1664-0640 |pmc=9947477 |pmid=36846217}}{{Cite journal |last1=Scalco |first1=Renata Siciliani |last2=Morrow |first2=Jasper M. |last3=Booth |first3=Suzanne |last4=Chatfield |first4=Sherryl |last5=Godfrey |first5=Richard |last6=Quinlivan |first6=Ros |date=September 2017 |title=Misdiagnosis is an important factor for diagnostic delay in McArdle disease |url=https://linkinghub.elsevier.com/retrieve/pii/S0960896617300561 |journal=Neuromuscular Disorders |volume=27 |issue=9 |pages=852–855 |doi=10.1016/j.nmd.2017.04.013 |pmid=28629675 |issn=0960-8966}}{{Cite journal |last1=Shattock |first1=Lucy |last2=Williamson |first2=Holly |last3=Caldwell |first3=Kim |last4=Anderson |first4=Kate |last5=Peters |first5=Sarah |date=May 2013 |title='They've just got symptoms without science': Medical trainees' acquisition of negative attitudes towards patients with medically unexplained symptoms |url=https://pubmed.ncbi.nlm.nih.gov/23369375/ |journal=Patient Education and Counseling |volume=91 |issue=2 |pages=249–254 |doi=10.1016/j.pec.2012.12.015 |issn=1873-5134 |pmid=23369375}}
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.{{Cite journal |last=Jutel |first=Annemarie |date=2010-11-01 |title=Medically unexplained symptoms and the disease label |url=https://link.springer.com/article/10.1057/sth.2009.21 |journal=Social Theory & Health |language=en |volume=8 |issue=3 |pages=229–245 |doi=10.1057/sth.2009.21 |issn=1477-822X}}{{Cite journal |last1=Merten |first1=Eva Charlotte |last2=Cwik |first2=Jan Christopher |last3=Margraf |first3=Jürgen |last4=Schneider |first4=Silvia |date=2017-01-17 |title=Overdiagnosis of mental disorders in children and adolescents (in developed countries) |journal=Child and Adolescent Psychiatry and Mental Health |volume=11 |issue=1 |pages=5 |doi=10.1186/s13034-016-0140-5 |doi-access=free |issn=1753-2000 |pmc=5240230 |pmid=28105068 |quote=…a diagnostic dilemma unique to mental disorders. Unlike somatic disorders, mental disorders cannot be detected by genetic, neuronal, or physiological correlates.}}
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:
- Fibromyalgia{{cite journal | last1=Qureshi | first1=Aniqa G | last2=Jha | first2=Saurav K | last3=Iskander | first3=John | last4=Avanthika | first4=Chaithanya | last5=Jhaveri | first5=Sharan | last6=Patel | first6=Vithi Hitendra | last7=Rasagna Potini | first7=Bhuvana | last8=Talha Azam | first8=Ahmad | title=Diagnostic Challenges and Management of Fibromyalgia | journal=Cureus | publisher=Springer Science and Business Media LLC | date=2021-10-11 | volume=13 | issue=10 | pages=e18692 | issn=2168-8184 | doi=10.7759/cureus.18692 | doi-access=free | pmid=34786265 | pmc=8580749 }}
- Adult-onset Still's disease{{cite journal|vauthors=Akkara Veetil BM, Yee AH, Warrington KJ, ((Aksamit AJ Jr)), Mason TG|title=Aseptic meningitis in adult onset Still's disease|journal=Rheumatol Int|date=December 2012|volume=32|issue=12|pages=4031–4034|pmid=20495923|doi=10.1007/s00296-010-1529-8|s2cid=19431424}}
- Behçet's disease{{cite web |url=http://emedicine.medscape.com/article/1122381-overview |title=Behcet Disease: Overview – eMedicine Dermatology |access-date=2009-03-28}}
- Bell's palsy{{cite journal | vauthors = Petruzzelli GJ, Hirsch BE | title = Bell's palsy. A diagnosis of exclusion | journal = Postgraduate Medicine | volume = 90 | issue = 2 | pages = 115–118, 121–122, 125–127 | date = August 1991 | pmid = 1862038 | doi = 10.1080/00325481.1991.11701011 }}
- Burning mouth syndrome{{cite journal | vauthors = Maltsman-Tseikhin A, Moricca P, Niv D | s2cid = 4820793 | title = Burning mouth syndrome: will better understanding yield better management? | journal = Pain Practice | volume = 7 | issue = 2 | pages = 151–162 | date = June 2007 | pmid = 17559486 | doi = 10.1111/j.1533-2500.2007.00124.x }}
- Chronic recurrent multifocal osteomyelitis{{cite journal | vauthors = Ferguson B, Gryfe D, Hsu W | title = Chronic recurrent multifocal osteomyelitis in a 13 year old female athlete: a case report | journal = The Journal of the Canadian Chiropractic Association | volume = 57 | issue = 4 | pages = 334–340 | date = December 2013 | pmid = 24302781 | pmc = 3845477 }}
- Long COVID{{Cite journal|last=Leviner|first=Sherry|date=7 May 2021|title=Recognizing the Clinical Sequelae of COVID-19 in Adults: COVID-19 Long-Haulers|journal=The Journal for Nurse Practitioners|volume=17|issue=8|pages=946–949|doi=10.1016/j.nurpra.2021.05.003|issn=1555-4155|pmc=8103144|pmid=33976591}}
- Inappropriate sinus tachycardia{{Cite journal |last1=Ahmed |first1=Adnan |last2=Pothineni |first2=Naga Venkata K. |last3=Charate |first3=Rishi |last4=Garg |first4=Jalaj |last5=Elbey |first5=Mehmet |last6=de Asmundis |first6=Carlo |last7=LaMeir |first7=Mark |last8=Romeya |first8=Ahmed |last9=Shivamurthy |first9=Poojita |last10=Olshansky |first10=Brian |last11=Russo |first11=Andrea |last12=Gopinathannair |first12=Rakesh |last13=Lakkireddy |first13=Dhanunjaya |date=2022-06-21 |title=Inappropriate Sinus Tachycardia: Etiology, Pathophysiology, and Management: JACC Review Topic of the Week |url=https://linkinghub.elsevier.com/retrieve/pii/S0735109722048252 |journal=Journal of the American College of Cardiology |volume=79 |issue=24 |pages=2450–2462 |doi=10.1016/j.jacc.2022.04.019 |pmid=35710196 |issn=0735-1097}}
- Psychogenic polydipsia{{Cite web|url=http://www.gpnotebook.co.uk/simplepage.cfm?ID=-2087059408|title=primary polydipsia – General Practice Notebook|last=Prince|first=Jim McMorran, Damian Crowther, Stew McMorran, Steve Youngmin, Ian Wacogne, Jon Pleat, Clive|website=www.gpnotebook.co.uk|access-date=2016-11-22}}
- Schizophrenia{{cite journal |last1=Oliver Freudenreich |first1=M. D. |title=Differential Diagnosis of Psychotic Symptoms: Medical "Mimics" |journal=Psychiatric Times |date=3 December 2012 |volume=27 |url=https://www.psychiatrictimes.com/view/differential-diagnosis-psychotic-symptoms-medical-mimics |language=en}}
- Somatic symptom disorder{{Cite journal|last=Henningsen|first=Peter|date=March 2018|title=Management of somatic symptom disorder|journal=Dialogues in Clinical Neuroscience|volume=20|issue=1|pages=23–31|doi=10.31887/DCNS.2018.20.1/phenningsen|issn=1294-8322|pmc=6016049|pmid=29946208}}
- Sudden infant death syndrome{{cite web | last1=Kim | first1=Hoon | last2=Pearson-Shaver | first2=Anthony L. | title=Sudden Infant Death Syndrome | publisher=StatPearls Publishing | date=2023-07-24 | pmid=32809642 | url=https://www.ncbi.nlm.nih.gov/books/NBK560807/ | access-date=2024-03-13}}
- Tolosa–Hunt syndrome{{cite journal | vauthors = Kwan ES, Wolpert SM, Hedges TR, Laucella M | title = Tolosa-Hunt syndrome revisited: not necessarily a diagnosis of exclusion | journal = AJR. American Journal of Roentgenology | volume = 150 | issue = 2 | pages = 413–418 | date = February 1988 | pmid = 3257334 | doi = 10.2214/ajr.150.2.413 | s2cid = 32214113 }}
- Systemic-onset juvenile idiopathic arthritis{{cite book | last1=De Benedetti | first1=Fabrizio | last2=Schneider | first2=Rayfel | title=Textbook of Pediatric Rheumatology | chapter=Systemic Juvenile Idiopathic Arthritis | publisher=Elsevier | year=2016 | isbn=978-0-323-24145-8 | doi=10.1016/b978-0-323-24145-8.00016-8 | page=205–216.e6}}
See also
References
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