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Cause, also known as etiology () and aetiology, is the reason or origination of something. The word ''
etiology Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, e ...
'' is derived from the Greek , ''aitiologia'', "giving a reason for" (, ''aitia'', "cause"; and , ''
-logia ''-logy'' is a suffix in the English language, used with words originally adapted from Ancient Greek ending in ('). The earliest English examples were anglicizations of the French '' -logie'', which was in turn inherited from the Latin '' -logi ...
'').


Description

In medicine,
etiology Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, e ...
refers to the cause or causes of diseases or pathologies. Where no etiology can be ascertained, the disorder is said to be idiopathic. Traditional accounts of the causes of disease may point to the " evil eye". The
Ancient Roman In modern historiography, ancient Rome refers to Roman civilisation from the founding of the city of Rome in the 8th century BC to the collapse of the Western Roman Empire in the 5th century AD. It encompasses the Roman Kingdom (753–509 BC ...
scholar Marcus Terentius Varro put forward early ideas about microorganisms in a 1st-century BC book titled ''On Agriculture''. Medieval thinking on the etiology of disease showed the influence of Galen and of Hippocrates. Medieval European doctors generally held the view that disease was related to the air and adopted a miasmatic approach to disease etiology. Etiological discovery in medicine has a history in
Robert Koch Heinrich Hermann Robert Koch ( , ; 11 December 1843 – 27 May 1910) was a German physician and microbiologist. As the discoverer of the specific causative agents of deadly infectious diseases including tuberculosis, cholera (though the Vibrio ...
's demonstration that species of the
pathogenic bacteria Pathogenic bacteria are bacteria that can cause disease. This article focuses on the bacteria that are pathogenic to humans. Most species of bacteria are harmless and are often Probiotic, beneficial but others can cause infectious diseases. The n ...
''
Mycobacterium tuberculosis ''Mycobacterium tuberculosis'' (M. tb) is a species of pathogenic bacteria in the family Mycobacteriaceae and the causative agent of tuberculosis. First discovered in 1882 by Robert Koch, ''M. tuberculosis'' has an unusual, waxy coating on its c ...
'' causes the disease tuberculosis; ''
Bacillus anthracis ''Bacillus anthracis'' is a gram-positive and rod-shaped bacterium that causes anthrax, a deadly disease to livestock and, occasionally, to humans. It is the only permanent ( obligate) pathogen within the genus ''Bacillus''. Its infection is a ...
'' causes
anthrax Anthrax is an infection caused by the bacterium ''Bacillus anthracis''. It can occur in four forms: skin, lungs, intestinal, and injection. Symptom onset occurs between one day and more than two months after the infection is contracted. The sk ...
, and '' Vibrio cholerae'' causes
cholera Cholera is an infection of the small intestine by some strains of the bacterium ''Vibrio cholerae''. Symptoms may range from none, to mild, to severe. The classic symptom is large amounts of watery diarrhea that lasts a few days. Vomiting and ...
. This line of thinking and evidence is summarized in Koch's postulates. But proof of causation in infectious diseases is limited to individual cases that provide experimental evidence of etiology. In epidemiology, several lines of evidence together are required to for
causal inference Causal inference is the process of determining the independent, actual effect of a particular phenomenon that is a component of a larger system. The main difference between causal inference and inference of association is that causal inference ana ...
. Austin Bradford Hill demonstrated a causal relationship between tobacco smoking and lung cancer, and summarized the line of reasoning in the
Bradford Hill criteria The Bradford Hill criteria, otherwise known as Hill's criteria for causation, are a group of nine principles that can be useful in establishing epidemiologic evidence of a causal relationship between a presumed cause and an observed effect and have ...
, a group of nine principles to establish epidemiological causation. This idea of causality was later used in a proposal for a ''Unified concept of causation''.


Chain of causation and correlation

Further thinking in epidemiology was required to distinguish causation from association or statistical correlation. Events may occur together simply due to chance, bias or
confounding In statistics, a confounder (also confounding variable, confounding factor, extraneous determinant or lurking variable) is a variable that influences both the dependent variable and independent variable, causing a spurious association. Con ...
, instead of one event being caused by the other. It is also important to know which event is the cause. Careful sampling and measurement are more important than sophisticated statistical analysis to determine causation. Experimental evidence involving interventions (providing or removing the supposed cause) gives the most compelling evidence of etiology. Related to this, sometimes several symptoms always appear together, or more often than what could be expected, though it is known that one cannot cause the other. These situations are called syndromes, and normally it is assumed that an underlying condition must exist that explains all the symptoms. Other times there is not a single cause for a disease, but instead a chain of causation from an initial trigger to the development of the clinical disease. An etiological agent of disease may require an independent co-factor, and be subject to a promoter (increases expression) to cause disease. An example of all the above, which was recognized late, is that peptic ulcer disease may be induced by stress, requires the presence of acid secretion in the stomach, and has primary etiology in '' Helicobacter pylori'' infection. Many chronic diseases of unknown cause may be studied in this framework to explain multiple epidemiological associations or risk factors which may or may not be causally related, and to seek the actual etiology.


Etiological heterogeneity

Some diseases, such as diabetes or hepatitis, are syndromically defined by their
signs and symptoms 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 ...
, but include different conditions with different etiologies. These are called
heterogeneous condition A heterogeneous medical condition or heterogeneous disease is a medical term referring to a medical condition with several etiologies (root causes), such as hepatitis or diabetes. Medical conditions are normally defined pathologically (i.e. based o ...
s. Conversely, a single etiology, such as Epstein–Barr virus, may in different circumstances produce different diseases such as mononucleosis, nasopharyngeal carcinoma, or
Burkitt's lymphoma Burkitt lymphoma is a cancer of the lymphatic system, particularly B lymphocytes found in the germinal center. It is named after Denis Parsons Burkitt, the Irish surgeon who first described the disease in 1958 while working in equatorial Africa. ...
.


Endotype

An endotype is a subtype of a condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases. One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes. This is related to the concept of
disease entity An endotype is a subtype of a health condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as development, biochem ...
. Other example could be
AIDS Human immunodeficiency virus infection and acquired immunodeficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV), a retrovirus. Following initial infection an individual m ...
, where an HIV infection can produce several clinical stages. AIDS is defined as the clinical stage IV of the HIV infection.


See also

* Molecular pathological epidemiology *
Molecular pathology Molecular pathology is an emerging discipline within pathology which is focused in the study and diagnosis of disease through the examination of molecules within organs, tissues or bodily fluids. Molecular pathology shares some aspects of practice ...
* Pathogenesis


References


External links

* {{Authority control Pathology Epidemiology