Idiopathic Diseases
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An idiopathic disease is any
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 ...
with an unknown cause or mechanism of apparent spontaneous origin. From
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 ...
ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kind". For some medical conditions, one or more causes are somewhat understood, but in a certain percentage of people with the condition, the cause may not be readily apparent or characterized. In these cases, the origin of the condition is said to be idiopathic. With some other medical conditions, the root cause for a large percentage of all cases have not been established—for example,
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis (FSGS) is a histopathologic finding of scarring (sclerosis) of glomeruli and damage to renal podocytes.Rosenberg, Avi Z.; Kopp, Jeffrey B. (2017-03-07). "Focal Segmental Glomerulosclerosis". ''Clinical Journal o ...
or
ankylosing spondylitis Ankylosing spondylitis (AS) is a type of arthritis characterized by long-term inflammation of the joints of the spine typically where the spine joins the pelvis. Occasionally areas affected may include other joints such as the shoulders or hip ...
; the majority of these cases are deemed idiopathic.


Medical advances and this term

Advances in
medical science 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 practice ...
improve the understanding of causes of diseases and the classification of diseases; thus, regarding any particular condition or disease, as more root causes are discovered and as events that seemed spontaneous have their origins revealed, the percentage of cases designated as idiopathic decreases.


Usage of synonyms

The word ''essential'' is sometimes
synonym A synonym is a word, morpheme, or phrase that means exactly or nearly the same as another word, morpheme, or phrase in a given language. For example, in the English language, the words ''begin'', ''start'', ''commence'', and ''initiate'' are all ...
ous with ''idiopathic'' (as in
essential hypertension Essential hypertension (also called primary hypertension, or idiopathic hypertension) is the form of hypertension that by definition has no identifiable secondary cause. It is the most common type affecting 85% of those with high blood pressure. T ...
,
essential thrombocythemia Essential thrombocythemia (ET) is a rare chronic blood cancer (myeloproliferative neoplasm) characterised by the thrombocythemia, overproduction of platelets (thrombocytes) by megakaryocytes in the bone marrow. It may, albeit rarely, develop into a ...
, and
essential tremor Essential tremor (ET), also called benign tremor, familial tremor, and idiopathic tremor, is a medical condition characterized by involuntary rhythmic contractions and relaxations ( oscillations or twitching movements) of certain muscle groups in ...
) and the same is true of ''primary'' (as in
primary biliary cholangitis Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build ...
, or ''primary amenorrhea''), with the latter term being used in such cases to contrast with ''secondary'' in the sense of "secondary to .e., caused bysome other condition." Another, less common synonym is ''agnogenic'' (''agno-'', "unknown" + ''-gen'', "cause" + ''-ic''). The word ''cryptogenic'' ('' crypto-'', "hidden" + ''-gen'', "cause" + ''-ic'') has a
sense A sense is a biological system used by an organism for sensation, the process of gathering information about the world through the detection of Stimulus (physiology), stimuli. (For example, in the human body, the brain which is part of the cen ...
that is synonymous with ''idiopathic'' and a sense that is contradistinguished from it. Some disease classifications prefer the use of the synonymous term cryptogenic disease as in cryptogenic stroke, and some forms of
epilepsy Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical ...
. The use of cryptogenic is also sometimes reserved for cases where it is presumed that the cause is simple and will be found in the future. Some congenital conditions are idiopathic, and sometimes the word ''congenital'' is used synonymously with ''idiopathic''; but careful usage prefers to reserve the word ''congenital'' for conditions to which the literal sense of the word applies (that is, those whose pathophysiology has existed since the
neonatal An infant or baby is the very young offspring of human beings. ''Infant'' (from the Latin word ''infans'', meaning 'unable to speak' or 'speechless') is a formal or specialised synonym for the common term ''baby''. The terms may also be used to ...
period).


Syndrome without a name

The term syndrome without a name (SWAN) is used "when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause". It is believed that "about half (50%) of children with
learning disabilities Learning disability, learning disorder, or learning difficulty (British English) is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors. Given the "difficult ...
and approximately 60% of children with congenital disabilities (disabilities which are apparent from birth) do not have a definitive diagnosis to explain the cause of their difficulties".


See also

*
Diagnosis of exclusion A diagnosis of exclusion or by exclusion (''per exclusionem'') is a diagnosis of a medical condition reached by a process of elimination, which may be necessary if presence cannot be established with complete confidence from history, examination or ...
* Embolic stroke of undetermined source *
Functional disorder ‘Functional disorder’ is an umbrella term for a group of recognisable medical conditions which are due to changes to the functioning of the systems of the body rather than due to a disease affecting the structure of the body. Functional disord ...
* Idiosyncratic drug reaction * Fever of unknown origin


References


External links

* {{wiktionary-inline Medical terminology Nosology