Diagnosis of exclusion

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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

Related Research Articles

Multiple chemical sensitivity (MCS) is an unrecognized and controversial diagnosis characterized by chronic symptoms attributed to exposure to low levels of commonly used chemicals. Symptoms are typically vague and non-specific. They may include fatigue, headaches, nausea, and dizziness.

<span class="mw-page-title-main">Hypochondriasis</span> Medical condition

Hypochondriasis or hypochondria is a condition in which a person is excessively and unduly worried about having a serious illness. Hypochondria is an old concept whose meaning has repeatedly changed over its lifespan. It has been claimed that this debilitating condition results from an inaccurate perception of the condition of body or mind despite the absence of an actual medical diagnosis. An individual with hypochondriasis is known as a hypochondriac. Hypochondriacs become unduly alarmed about any physical or psychological symptoms they detect, no matter how minor the symptom may be, and are convinced that they have, or are about to be diagnosed with, a serious illness.

<span class="mw-page-title-main">Fibromyalgia</span> Chronic pain of unknown cause

Fibromyalgia is a medical syndrome that causes chronic widespread pain, accompanied by fatigue, awakening unrefreshed, and cognitive symptoms. Other symptoms can include headaches, lower abdominal pain or cramps, and depression. People with fibromyalgia can also experience insomnia and general hypersensitivity. The cause of fibromyalgia is unknown, but is believed to involve a combination of genetic and environmental factors. Environmental factors may include psychological stress, trauma, and some infections. Since the pain appears to result from processes in the central nervous system, the condition is referred to as a "central sensitization syndrome". Although a protocol using an algometer (algesiometer) for determining central sensitization has been proposed as an objective diagnostic test, fibromyalgia continues to be primarily diagnosed by exclusion.

Hypersomnia is a neurological disorder of excessive time spent sleeping or excessive sleepiness. It can have many possible causes and can cause distress and problems with functioning. In the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), hypersomnolence, of which there are several subtypes, appears under sleep-wake disorders.

In medicine and medical anthropology, a culture-bound syndrome, culture-specific syndrome, or folk illness is a combination of psychiatric and somatic symptoms that are considered to be a recognizable disease only within a specific society or culture. There are no known objective biochemical or structural alterations of body organs or functions, and the disease is not recognized in other cultures. The term culture-bound syndrome was included in the fourth version of the Diagnostic and Statistical Manual of Mental Disorders which also includes a list of the most common culture-bound conditions. Its counterpart in the framework of ICD-10 is the culture-specific disorders defined in Annex 2 of the Diagnostic criteria for research.

<span class="mw-page-title-main">Primary polydipsia</span> Medical condition

Primary polydipsia and psychogenic polydipsia are forms of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. Psychogenic polydipsia caused by psychiatric disorders—oftentimes schizophrenia—is frequently accompanied by the sensation of dry mouth. Some conditions with polydipsia as a symptom are non-psychogenic. Primary polydipsia is a diagnosis of exclusion.

Medically unexplained physical symptoms are symptoms for which a treating physician or other healthcare providers have found no medical cause, or whose cause remains contested. In its strictest sense, the term simply means that the cause for the symptoms is unknown or disputed—there is no scientific consensus. Not all medically unexplained symptoms are influenced by identifiable psychological factors. However, in practice, most physicians and authors who use the term consider that the symptoms most likely arise from psychological causes. Typically, the possibility that MUPS are caused by prescription drugs or other drugs is ignored. It is estimated that between 15% and 30% of all primary care consultations are for medically unexplained symptoms. A large Canadian community survey revealed that the most common medically unexplained symptoms are musculoskeletal pain, ear, nose, and throat symptoms, abdominal pain and gastrointestinal symptoms, fatigue, and dizziness. The term MUPS can also be used to refer to syndromes whose etiology remains contested, including chronic fatigue syndrome, fibromyalgia, multiple chemical sensitivity and Gulf War illness.

Clouding of consciousness, also called brain fog or mental fog, occurs when a person is slightly less wakeful or aware than normal. They are less aware of time and their surroundings, and find it difficult to pay attention. People describe this subjective sensation as their mind being "foggy".

Somatization is a tendency to experience and communicate psychological distress as bodily and organic symptoms and to seek medical help for them. More commonly expressed, it is the generation of physical symptoms of a psychiatric condition such as anxiety. The term somatization was introduced by Wilhelm Stekel in 1924.

A wastebasket diagnosis or trashcan diagnosis is a vague diagnosis given to a patient or to medical records department for essentially non-medical reasons. It may be given when the patient has an obvious but unidentifiable medical problem, when a doctor wants to reassure an anxious patient about the doctor's belief in the existence of reported symptoms, when a patient pressures a doctor for a label, or when a doctor wants to facilitate bureaucratic approval of treatment. It differs from a diagnosis of exclusion in that a wastebasket diagnosis is a diagnostic label of doubtful value, whereas a diagnosis of exclusion is characterized by the diagnosis being arrived at indirectly. Unlike a vague wastebasket diagnosis, the diagnostic label arrived at through a process of exclusion may be precise, accurate, and helpful.

<span class="mw-page-title-main">Neurological disorder</span> Any disorder of the nervous system

A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain, tauopathies, and altered levels of consciousness. There are many recognized neurological disorders, some are relatively common, but many are rare.

Functional disorders are a group of recognisable medical conditions which are due to changes to the functioning of the systems of the body rather than due to a disease affecting the structure of the body.

Behçet's disease is recognized as a disease that causes inflammatory perivasculitis, inflammation of the tissue around a blood or lymph vessel, in practically any tissue in the body. Usually, prevalent symptoms include canker sores or ulcers in the mouth and on the genitals, and inflammation in parts of the eye. In addition, patients experience severe headache and papulopustular skin lesions as well. The disease was first described in 1937 by a Turkish dermatologist, Dr. Hulusi Behçet. Behçet's disease is most prevalent in the Middle East and the Far East regions; however, it is rare in Western regions.

Mouth and genital ulcers with inflamed cartilage syndrome or MAGIC syndrome is a condition in which an individual exhibits symptoms of both relapsing polychondritis (RP) and Behcet's disease (BD). Inflammatory ulcers in the mouth, genitalia, and skin are the hallmark of Behcet's disease (BD), a multisystem illness that is chronic and relapsing. Autoimmune recurrent chondritis of the larynx, tracheobronchial tree, nose, ears, and mouth is known as relapsing polychondritis (RP).

Somatic symptom disorder, also known as somatoform disorder, or somatization disorder, is defined by one or more chronic physical symptoms that coincide with excessive and maladaptive thoughts, emotions, and behaviors connected to those symptoms. The symptoms are not deliberately produced or feigned, and they may or may not coexist with a known medical ailment.

Chronic Lyme disease (CLD) is the name used by some people with non-specific symptoms, such as fatigue, muscle pain, and cognitive dysfunction to refer to their condition, even if there is no evidence that they had Lyme disease. Both the label and the belief that these people's symptoms are caused by this particular infection are generally rejected by medical professionals. Chronic Lyme disease is distinct from post-treatment Lyme disease syndrome, a set of lingering symptoms which may persist after successful antibiotic treatment of infection with Lyme-causing Borrelia bacteria, and which may have similar symptoms to those associated with CLD.

Functional neurologic disorder or functional neurological disorder (FND) is a condition in which patients experience neurological symptoms such as weakness, movement problems, sensory symptoms, and convulsions. As a functional disorder, there is, by definition, no known disease process affecting the structure of the body, yet the person experiences symptoms relating to their body function. Symptoms of functional neurological disorders are clinically recognisable, but are not categorically associated with a definable organic disease.

Functional somatic syndrome (FSS) is any of a group of chronic diagnoses with no identifiable organic cause. This term was coined by Hemanth Samkumar. It encompasses disorders such as fibromyalgia, chronic widespread pain, temporomandibular disorder, irritable bowel syndrome, lower back pain, tension headache, atypical face pain, non-cardiac chest pain, insomnia, palpitation, dyspepsia and dizziness. General overlap exists between this term, somatization and somatoform. The status of ME/CFS as a functional somatic syndrome is contested. Although the aetiology remains unclear, there are consistent findings of biological abnormalities, and major health bodies such as the NAM, WHO, and NIH, classify it as an organic disease.

Idiopathic chronic fatigue (ICF) or chronic idiopathic fatigue or insufficient/idiopathic fatigue is a term used for cases of unexplained fatigue that have lasted at least six consecutive months and which do not meet the criteria for myalgic encephalomyelitis/chronic fatigue syndrome. Such fatigue is widely understood to have a profound effect on the lives of patients who experience it.

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. ISBN   978-90-481-9484-1. ISSN   0065-2598. PMID   20824449.
  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. 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.
  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. ↑ 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.
  22. ↑ 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.
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