Pathognomonic (synonym ''pathognomic'') is a term, often used in
medicine
Medicine is the science and Praxis (process), practice of caring for patients, managing the Medical diagnosis, diagnosis, prognosis, Preventive medicine, prevention, therapy, treatment, Palliative care, palliation of their injury or disease, ...
, that means "characteristic for a particular
disease
A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical condi ...
". A pathognomonic
sign is a particular sign whose presence means that a particular disease is present beyond any doubt. The absence of a pathognomonic sign does not rule out the disease. Labelling a sign or
symptom "pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom.
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.
Singular pathognomonic signs are relatively uncommon. Examples of pathognomonic findings include
Koplik's spots inside the
mouth
A mouth also referred to as the oral is the body orifice through which many animals ingest food and animal communication#Auditory, vocalize. The body cavity immediately behind the mouth opening, known as the oral cavity (or in Latin), is also t ...
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.
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 anemia
Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of oxygen. Megaloblastic anemia results from inhibition of DNA replication, DNA synthesis during red blood cell production. ...
s (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
Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained hyperglycemia, high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or th ...
being defined in terms of chronic fasting
blood glucose levels).
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.
Examples
See also
*
AIDS defining clinical condition
*
List of eponymous medical signs
*
Medical sign
*
Sine qua non
References
External links
{{Wiktionary
Slide show with audio summary of 122 pathognomonic signs
Medical terminology
Medical signs
Symptoms