Pathognomonic (rare synonym ''pathognomic'') is a term, often used in
medicine
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care pract ...
, that means "characteristic for a particular
disease
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
". A pathognomonic
sign
A sign is an object, quality, event, or entity whose presence or occurrence indicates the probable presence or occurrence of something else. A natural sign bears a causal relation to its object—for instance, thunder is a sign of storm, or me ...
is a particular sign whose presence means that a particular disease is present beyond any doubt. Labelling a sign or
symptom
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showin ...
"pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom.
The word is an adjective of
Greek
Greek may refer to:
Greece
Anything of, from, or related to Greece, a country in Southern Europe:
*Greeks, an ethnic group.
*Greek language, a branch of the Indo-European language family.
**Proto-Greek language, the assumed last common ancestor ...
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
The positive and negative predictive values (PPV and NPV respectively) are the proportions of positive and negative results in statistics and diagnostic tests that are true positive and true negative results, respectively. The PPV and NPV descr ...
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
In healthcare, a differential diagnosis (abbreviated DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that p ...
.
Singular pathognomonic signs are relatively uncommon. Examples of pathognomonic findings include
Koplik's spots
Koplik's spots (also Koplik's sign) are a prodromic viral enanthem of measles manifesting two to three days before the measles rash itself. They are characterized as clustered, white lesions on the buccal mucosa (opposite the lower 1st & 2nd m ...
inside the
mouth
In animal anatomy, the mouth, also known as the oral cavity, or in Latin cavum oris, is the opening through which many animals take in food and issue vocal sounds. It is also the cavity lying at the upper end of the alimentary canal, bounded on ...
in
measles
Measles is a highly contagious infectious disease caused by measles virus. Symptoms usually develop 10–12 days after exposure to an infected person and last 7–10 days. Initial symptoms typically include fever, often greater than , cough, ...
, the palmar
xanthoma
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lip ...
ta seen on the hands of people suffering from
hyperlipoproteinemia
Hyperlipidemia is abnormally elevated levels of any or all lipids (fats, cholesterol, or triglycerides) or lipoproteins in the blood. citing: and The term ''hyperlipidemia'' refers to the laboratory finding itself and is also used as an umbre ...
,
Negri bodies
Negri bodies are eosinophilic, sharply outlined, pathognomonic inclusion bodies (2–10 μm in diameter) found in the cytoplasm of certain nerve cells containing the virus of rabies, especially in pyramidal cells within Ammon's horn of th ...
within brain tissue infected with
rabies
Rabies is a viral disease that causes encephalitis in humans and other mammals. Early symptoms can include fever and tingling at the site of exposure. These symptoms are followed by one or more of the following symptoms: nausea, vomiting, vi ...
, or a tetrad of
rash
A rash is a change of the human skin which affects its color, appearance, or texture.
A rash may be localized in one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, chapped, dry, cr ...
,
arthralgia
Arthralgia (from Greek ''arthro-'', joint + ''-algos'', pain) literally means ''joint pain''. Specifically, arthralgia is a symptom of injury, infection, illness (in particular arthritis), or an allergic reaction to medication.
According to MeSH, ...
,
abdominal pain
Abdominal pain, also known as a stomach ache, is a symptom
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than ...
and
kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood ...
disease in a child with
Henoch–Schönlein purpura
Henoch–Schönlein purpura (HSP), also known as IgA vasculitis, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children. In the skin, the disease causes palpable purpura (small, raised areas of bl ...
.
As opposed to
symptom
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showin ...
s (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
Neutrophil hypersegmentation can be defined as the presence of neutrophils whose nuclei have six or more lobes or the presence of more than 3% of neutrophils with at least five nuclear lobes. This is a clinical laboratory finding. It is visualized ...
, 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, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ap ...
being defined in terms of chronic fasting
blood glucose
Glycaemia, also known as blood sugar level, blood sugar concentration, or blood glucose level is the measure of glucose concentrated in the blood of humans or other animals. Approximately 4 grams of glucose, a simple sugar, is present in the blo ...
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
AIDS-defining clinical conditions (also known as AIDS-defining illnesses or AIDS-defining diseases) is the list of diseases published by the Centers for Disease Control and Prevention (CDC) that are associated with AIDS, and used worldwide as a gu ...
*
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