Pathognomonic

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Pathognomonic (rare synonym pathognomic [1] ) is a term, often used in medicine, that means "characteristic for a particular disease". A pathognomonic sign is a particular sign whose presence means that a particular disease is present beyond any doubt. Labelling a sign or symptom "pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom.

Contents

The word is an adjective of Greek origin derived from πάθος pathos 'disease' and γνώμων gnomon 'indicator' (from γιγνώσκω gignosko 'I know, I recognize').

Practical use

While some findings may be classic, typical or highly suggestive in a certain condition, they may not occur uniquely in this condition and therefore may not directly imply a specific diagnosis. A pathognomonic sign or symptom has very high positive predictive value and high specificity but does not need to have high sensitivity: for example it can sometimes be absent in a certain disease, since the term only implies that, when it is present, the doctor instantly knows the patient's illness. The presence of a pathognomonic finding allows immediate diagnosis, since there are no other conditions in the differential diagnosis.[ citation needed ]

Singular pathognomonic signs are relatively uncommon. Examples of pathognomonic findings include Koplik's spots inside the mouth in measles, the palmar xanthomata seen on the hands of people suffering from hyperlipoproteinemia, Negri bodies within brain tissue infected with rabies, or a tetrad of rash, arthralgia, abdominal pain and kidney disease in a child with Henoch–Schönlein purpura, or succinylacetone for Tyrosinemia Type I.[ citation needed ]

As opposed to symptoms (reported subjectively by the patient and not measured) and signs (observed by the physician at the bedside on physical exam, without need for a report) a larger number of medical test results are pathognomonic. An example is the hypersegmented neutrophil, which is seen only in megaloblastic anemias (not a single disease, but a set of closely related disease states). More often a test result is "pathognomonic" only because there has been a consensus to define the disease state in terms of the test result (such as diabetes mellitus being defined in terms of chronic fasting blood glucose levels).[ citation needed ]

In contrast, a test with very high sensitivity rarely misses a condition, so a negative result should be reassuring (the disease tested for is absent). A sign or symptom with very high sensitivity is often termed sine qua non . An example of such test is a genetic test to find an underlying mutation in certain types of hereditary colon cancer. [2] [3]

Examples

DiseaseSign
Cytomegalovirus infection Owl's eye appearance of inclusion bodies [4] [5]
Hodgkin's lymphoma

Reed-Sternberg cells (giant mono- and multinucleated cells) upon microscopy

Lyme disease Erythema chronicum migrans [6]
Inclusion body myositis Filamentous material seen in inclusion bodies under electron microscopy
Hypocalcemia Trousseau sign and Chvostek sign
Tetanus or Strychnine poisoning Risus sardonicus
Measles Koplik's spots
Wilson's disease Kayser–Fleischer ring
Diphtheria Pseudomembrane on tonsils, pharynx and nasal cavity
Chronic hemorrhagic pancreatitis Grey-Turner's sign (ecchymosis in flank area)
Cholera Rice-watery stool
Enteric fever Rose spots in abdomen
Meningitis Kernig's sign and Brudzinski's sign
Angina pectoris Levine's sign (hand clutching of chest) [7]
Patent ductus arteriosus Machine-like murmur
Parkinson's disease [ citation needed ] Pill-rolling tremors [ citation needed ]
Whipple's disease Oculo-masticatory myorhythmia
Acute myeloid leukemia Auer rod
Multiple sclerosis Bilateral internuclear ophthalmoplegia
Pericarditis Pericardial friction rub
Rheumatic fever Aschoff bodies
Rabies Hydrophobia and negri bodies
Gout Tophi
MASC ETV6-NTRK3
Acute tubular necrosis Muddy brown casts
Granulosa cell tumour Call-Exner bodies
Malakoplakia Michaelis–Gutmann bodies
Narcolepsy (with cataplexy) Cataplexy
Endodermal sinus tumor Schiller–Duval body
Atrial flutter Flutter waves [8]
Sickle cell disease Vaso-occlusive crises [9]

See also

Related Research Articles

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Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development of cancer from the colon or rectum. Signs and symptoms may include blood in the stool, a change in bowel movements, weight loss, abdominal pain and fatigue. Most colorectal cancers are due to old age and lifestyle factors, with only a small number of cases due to underlying genetic disorders. Risk factors include diet, obesity, smoking, and lack of physical activity. Dietary factors that increase the risk include red meat, processed meat, and alcohol. Another risk factor is inflammatory bowel disease, which includes Crohn's disease and ulcerative colitis. Some of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non-polyposis colon cancer; however, these represent less than 5% of cases. It typically starts as a benign tumor, often in the form of a polyp, which over time becomes cancerous.

<span class="mw-page-title-main">Signs and symptoms</span> Indications of a specific illness, including psychiatric

Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition.

<span class="mw-page-title-main">Asymptomatic</span> Patient is a carrier for a disease or infection but experiences no symptoms

Asymptomatic is an adjective categorising the medical conditions that patients carry but without experiencing their symptoms, despite an explicit diagnosis.

<span class="mw-page-title-main">Fecal occult blood</span> Medical condition

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In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each individual option of a possible disease is called a differential diagnosis.

In evidence-based medicine, likelihood ratios are used for assessing the value of performing a diagnostic test. They use the sensitivity and specificity of the test to determine whether a test result usefully changes the probability that a condition exists. The first description of the use of likelihood ratios for decision rules was made at a symposium on information theory in 1954. In medicine, likelihood ratios were introduced between 1975 and 1980.

<span class="mw-page-title-main">Familial adenomatous polyposis</span> Pre-cancerous intestinal polyps

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated. Three variants are known to exist, FAP and attenuated FAP are caused by APC gene defects on chromosome 5 while autosomal recessive FAP is caused by defects in the MUTYH gene on chromosome 1. Of the three, FAP itself is the most severe and most common; although for all three, the resulting colonic polyps and cancers are initially confined to the colon wall. Detection and removal before metastasis outside the colon can greatly reduce and in many cases eliminate the spread of cancer.

<span class="mw-page-title-main">Hereditary nonpolyposis colorectal cancer</span> Autosomal dominant genetic condition associated with a high risk of cancer in the colon

Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.

Sine qua non or conditio sine qua non is an indispensable and essential action, condition, or ingredient. It was originally a Latin legal term for "[a condition] without which it could not be", "but for...", or "without which [there is] nothing." Also, "sine qua non causation" is the formal terminology for "but-for causation."

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<span class="mw-page-title-main">Sensitivity and specificity</span> Statistical measures of the performance of a binary classification test

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<span class="mw-page-title-main">Lymphedema–distichiasis syndrome</span> Medical condition

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<span class="mw-page-title-main">Medical test</span> Medical procedure

A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic testing, chemical and cellular analysis, relating to clinical chemistry and molecular diagnostics, are typically performed in a medical setting.

The Amsterdam criteria are a set of diagnostic criteria used by doctors to help identify families which are likely to have Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC).

<span class="mw-page-title-main">Colorectal polyp</span> Growth found in bowel wall

A colorectal polyp is a polyp occurring on the lining of the colon or rectum. Untreated colorectal polyps can develop into colorectal cancer.

<span class="mw-page-title-main">Medical diagnosis</span> Process to identify a disease or disorder

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<span class="mw-page-title-main">Cancer screening</span> Method to detect cancer

The objective of cancer screening is to detect cancer before symptoms appear, involving various methods such as blood tests, urine tests, DNA tests, and medical imaging. The purpose of screening is early cancer detection, to make the cancer easier to treat and extending life expectancy. In 2019, cancer was the second leading cause of death globally; more recent data is pending due to the COVID-19 pandemic.

Pre-test probability and post-test probability are the probabilities of the presence of a condition before and after a diagnostic test, respectively. Post-test probability, in turn, can be positive or negative, depending on whether the test falls out as a positive test or a negative test, respectively. In some cases, it is used for the probability of developing the condition of interest in the future.

<span class="mw-page-title-main">Hereditary cancer syndrome</span> Inherited genetic condition that predisposes a person to cancer

A hereditary cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors.

References

  1. "Pathognomic". Oxford Dictionaries. Archived from the original on May 27, 2018.
  2. Lynch HT, Lynch JF, Lynch PM, Attard T (2007). "Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management". Familial Cancer. 7 (1): 27–39. doi:10.1007/s10689-007-9165-5. PMID   17999161. S2CID   20103607.
  3. Lynch HT, Lanspa SJ (November 2010). "Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families". Journal of the National Cancer Institute. 102 (22): 1687–9. doi:10.1093/jnci/djq439. PMID   21044965.
  4. Page 268 in: Gibbs RD, Sweet RL (2009). Infectious Diseases of the Female Genital Tract. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN   978-0-7817-7815-2.
  5. Mattes FM, McLaughlin JE, Emery VC, Clark DA, Griffiths PD (August 2000). "Histopathological detection of owl's eye inclusions is still specific for cytomegalovirus in the era of human herpesviruses 6 and 7". Journal of Clinical Pathology. 53 (8): 612–4. doi:10.1136/jcp.53.8.612. PMC   1762915 . PMID   11002765.
  6. Ogden NH, Lindsay LR, Morshed M, Sockett PN, Artsob H (January 2008). "The rising challenge of Lyme borreliosis in Canada". Canada Communicable Disease Report. 34 (1): 1–19. PMID   18290267.
  7. Swartz MH (2014). Textbook of Physical Diagnosis: History and Examination. Elsevier. p. 354. ISBN   9780323225076.
  8. Bernstein, Neil E.; Sandler, David A.; Goh, Mark; Feigenblum, David Y.; Holmes, Douglas S.; Chinitz, Larry A. (15 October 2004). "Why a Sawtooth? Inferences on the Generation of the Flutter Wave during Typical Atrial Flutter Drawn from Radiofrequency Ablation". Annals of Noninvasive Electrocardiology. 9 (4): 358–361. doi:10.1111/j.1542-474X.2004.94576.x. PMC   6932011 . PMID   15485514.
  9. Rami Helvaci M, Ayyildiz O, Gundogdu M (July 2013). "Gender differences in severity of sickle cell diseases in non-smokers". Pakistan Journal of Medical Sciences. 29 (4): 1050–4. PMC   3817781 . PMID   24353686.