Cause, also known as etiology () and aetiology, is the

reason Reason is the capacity of consciously applying logic by drawing conclusions from new or existing information, with the aim of seeking the truth. It is closely associated with such characteristically human activities as philosophy, science, ...

or origination of something. The word '' etiology'' is derived from the

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 ...

, ''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 refers to the cause or causes of

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 ...

s or

pathologies Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...

. Where no etiology can be ascertained, the disorder is said to be

idiopathic An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kin ...

. Traditional accounts of the causes of disease may point to the "

evil eye The Evil Eye ( grc, ὀφθαλμὸς βάσκανος; grc-koi, ὀφθαλμὸς πονηρός; el, (κακό) μάτι; he, עַיִן הָרָע, ; Romanian: ''Deochi''; it, malocchio; es, mal de ojo; pt, mau-olhado, olho gordo; ar ...

". The Ancient Roman scholar

Marcus Terentius Varro Marcus Terentius Varro (; 116–27 BC) was a Roman polymath and a prolific author. He is regarded as ancient Rome's greatest scholar, and was described by Petrarch as "the third great light of Rome" (after Vergil and Cicero). He is sometimes calle ...

put forward early ideas about

microorganism A microorganism, or microbe,, ''mikros'', "small") and ''organism'' from the el, ὀργανισμός, ''organismós'', "organism"). It is usually written as a single word but is sometimes hyphenated (''micro-organism''), especially in olde ...

s in a 1st-century BC book titled ''On Agriculture''. Medieval thinking on the etiology of disease showed the influence of

Galen Aelius Galenus or Claudius Galenus ( el, Κλαύδιος Γαληνός; September 129 – c. AD 216), often Anglicized as Galen () or Galen of Pergamon, was a Greek physician, surgeon and philosopher in the Roman Empire. Considered to be one ...

and of

Hippocrates Hippocrates of Kos (; grc-gre, Ἱπποκράτης ὁ Κῷος, Hippokrátēs ho Kôios; ), also known as Hippocrates II, was a Greek physician of the classical period who is considered one of the most outstanding figures in the history o ...

. Medieval

Europe Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a subcontinent of Eurasia and it is located entirel ...

an 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 bacteri ...

's demonstration that species of the pathogenic bacteria '' Mycobacterium tuberculosis'' causes the disease

tuberculosis Tuberculosis (TB) is an infectious disease usually caused by '' Mycobacterium tuberculosis'' (MTB) bacteria. Tuberculosis generally affects the lungs, but it can also affect other parts of the body. Most infections show no symptoms, i ...

; '' Bacillus anthracis'' causes anthrax, and ''

Vibrio cholerae ''Vibrio cholerae'' is a species of Gram-negative, facultative anaerobe and comma-shaped bacteria. The bacteria naturally live in brackish or saltwater where they attach themselves easily to the chitin-containing shells of crabs, shrimps, and oth ...

'' causes cholera. This line of thinking and evidence is summarized in

Koch's postulates Koch's postulates ( )"Koch"
''

epidemiology Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and determinants of health and disease conditions in a defined population. It is a cornerstone of public health, and shapes policy decisions and evide ...

, several lines of evidence together are required to for causal inference.

Austin Bradford Hill Sir Austin Bradford Hill (8 July 1897 – 18 April 1991) was an English epidemiologist and statistician, pioneered the randomised clinical trial and, together with Richard Doll, demonstrated the connection between cigarette smoking and lung ...

demonstrated a causal relationship between

tobacco smoking Tobacco smoking is the practice of burning tobacco and ingesting the resulting smoke. The smoke may be inhaled, as is done with cigarettes, or simply released from the mouth, as is generally done with pipes and cigars. The practice is believed ...

and

lung cancer Lung cancer, also known as lung carcinoma (since about 98–99% of all lung cancers are carcinomas), is a malignant lung tumor characterized by uncontrolled cell growth in tissues of the lung. Lung carcinomas derive from transformed, malign ...

, 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 Chance may refer to: Mathematics and Science * In mathematics, likelihood of something (by way of the Likelihood function and/or Probability density function). * ''Chance'' (statistics magazine) Places * Chance, Kentucky, US * Chance, Mary ...

bias Bias is a disproportionate weight ''in favor of'' or ''against'' an idea or thing, usually in a way that is closed-minded, prejudicial, or unfair. Biases can be innate or learned. People may develop biases for or against an individual, a group ...

or confounding, 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

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...

s, 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 Peptic ulcer disease (PUD) is a break in the inner lining of the stomach, the first part of the small intestine, or sometimes the lower esophagus. An ulcer in the stomach is called a gastric ulcer, while one in the first part of the intestines ...

may be induced by stress, requires the presence of acid secretion in the stomach, and has primary etiology in ''

Helicobacter pylori ''Helicobacter pylori'', previously known as ''Campylobacter pylori'', is a gram-negative, microaerophilic, spiral (helical) bacterium usually found in the stomach. Its helical shape (from which the genus name, helicobacter, derives) is thoug ...

'' infection. Many chronic diseases of unknown cause may be studied in this framework to explain multiple epidemiological associations or

risk factor In epidemiology, a risk factor or determinant is a variable associated with an increased risk of disease or infection. Due to a lack of harmonization across disciplines, determinant, in its more widely accepted scientific meaning, is often ...

s which may or may not be causally related, and to seek the actual etiology.

Etiological heterogeneity

Some diseases, such as

diabetes 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 ...

hepatitis Hepatitis is inflammation of the liver tissue. Some people or animals with hepatitis have no symptoms, whereas others develop yellow discoloration of the skin and whites of the eyes ( jaundice), poor appetite, vomiting, tiredness, abdominal ...

, are syndromically defined by their signs and symptoms, but include different conditions with different etiologies. These are called heterogeneous conditions. Conversely, a single etiology, such as

Epstein–Barr virus The Epstein–Barr virus (EBV), formally called ''Human gammaherpesvirus 4'', is one of the nine known human herpesvirus types in the herpes family, and is one of the most common viruses in humans. EBV is a double-stranded DNA virus. It is b ...

, may in different circumstances produce different diseases such as

mononucleosis Infectious mononucleosis (IM, mono), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). Most people are infected by the virus as children, when the disease produces few or no symptoms. In young adult ...

nasopharyngeal carcinoma Nasopharyngeal carcinoma (NPC), or nasopharynx cancer, is the most common cancer originating in the nasopharynx, most commonly in the postero-lateral nasopharynx or pharyngeal recess ( fossa of Rosenmüller), accounting for 50% of cases. NPC occurs ...

, or Burkitt's lymphoma.

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 In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological pr ...

, which is any observable characteristic or trait of a

, such as

morphology Morphology, from the Greek and meaning "study of shape", may refer to: Disciplines * Morphology (archaeology), study of the shapes or forms of artifacts * Morphology (astronomy), study of the shape of astronomical objects such as nebulae, galaxies ...

, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. It is envisaged that

patient A patient is any recipient of health care services that are performed by healthcare professionals. The patient is most often ill or injured and in need of treatment by a physician, nurse, optometrist, dentist, veterinarian, or other hea ...

s with a specific endotype present themselves within phenotypic clusters of diseases. One example is asthma, which is considered to be a

, consisting of a series of endotypes. This is related to the concept of disease entity. Other example could be AIDS, where an HIV infection can produce several clinical stages. AIDS is defined as the clinical stage IV of the HIV infection.

References

External links