Signs and symptoms

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Signs (including enlarged liver and spleen) and symptoms (including headache and vomiting) of acute HIV infection Symptoms of acute HIV infection.svg
Signs (including enlarged liver and spleen) and symptoms (including headache and vomiting) of acute HIV infection

Signs and symptoms are diagnostic indications of an illness, injury, or condition.

Contents

Signs are objective and externally observable; symptoms are a person's reported subjective experiences. [1]

A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pains in the body, [2] [3] which occur as the body's immune system fights off an infection. [4] [5] [6]

Signs and symptoms

Signs

A medical sign is an objective observable indication of a disease, injury, or medical condition that may be detected during a physical examination. [7] These signs may be visible, such as a rash or bruise, or otherwise detectable such as by using a stethoscope or taking blood pressure. Medical signs, along with symptoms, help in forming a diagnosis. Some examples of signs are nail clubbing of either the fingernails or toenails [8] or an abnormal gait. [9]

Symptoms

A symptom is something felt or experienced, such as pain or dizziness. Signs and symptoms are not mutually exclusive, for example a subjective feeling of fever can be noted as sign by using a thermometer that registers a high reading. [10] The CDC lists various diseases by their signs and symptoms such as for measles which includes a high fever, conjunctivitis, and cough, followed a few days later by the measles rash. [11]

Cardinal signs and symptoms

Cardinal signs and symptoms are very specific even to the point of being pathognomonic. A cardinal sign or cardinal symptom can also refer to the major sign or symptom of a disease. [12] Abnormal reflexes can indicate problems with the nervous system. Signs and symptoms are also applied to physiological states outside the context of disease, as for example when referring to the signs and symptoms of pregnancy, or the symptoms of dehydration. Sometimes a disease may be present without showing any signs or symptoms when it is known as being asymptomatic. [13] The disorder may be discovered through tests including scans. An infection may be asymptomatic but still be transmissible. [13]

Syndrome

Signs and symptoms are often non-specific, but some combinations can be suggestive of certain diagnoses, helping to narrow down what may be wrong. A particular set of characteristic signs and symptoms that may be associated with a disorder is known as a syndrome.

Symptomatic

When a disease is evidenced by symptoms it is known as symptomatic. There are many conditions including subclinical infections that display no symptoms, and these are termed asymptomatic.

Signs and symptoms may be mild or severe, brief or longer-lasting when they may become reduced (remission), or then recur (relapse or recrudescence) known as a flare-up. A flare-up may show more severe symptoms. [14]

The term chief complaint, also "presenting problem", is used to describe the initial concern of an individual when seeking medical help, and once this is clearly noted a history of the present illness may be taken. The symptom that ultimately leads to a diagnosis is called a cardinal symptom.[ citation needed ] Some symptoms can be misleading as a result of referred pain, where for example a pain in the right shoulder may be due to an inflamed gallbladder and not to presumed muscle strain. [15]

Prodrome

Many diseases have an early prodromal stage where a few signs and symptoms may suggest the presence of a disorder before further specific symptoms may emerge. Measles for example has a prodromal presentation that includes a hacking cough, fever, and Koplik's spots in the mouth. [16] Over half of migraine episodes have a prodromal phase. [17] Schizophrenia has a notable prodromal stage, [18] as has dementia. [19]

Nonspecific symptoms

Some symptoms are specific, that is, they are associated with a single, specific medical condition.[ citation needed ]

Nonspecific symptoms, sometimes also called equivocal symptoms, [20] are not specific to a particular condition. They include unexplained weight loss, headache, pain, fatigue, loss of appetite, night sweats, and malaise. [21] A group of three particular nonspecific symptoms – fever, night sweats, and weight loss – over a period of six months are termed B symptoms associated with lymphoma and indicate a poor prognosis. [22]

Other sub-types of symptoms include:

Vital signs

Vital signs are the four signs that can give an immediate measurement of the body's overall functioning and health status. They are temperature, heart rate, breathing rate, and blood pressure. The ranges of these measurements vary with age, weight, gender and with general health. [29]

A digital application has been developed for use in clinical settings that measures three of the vital signs (not temperature) using just a smartphone, and has been approved by NHS England. The application is registered as Lifelight First, and Lifelight Home is under development (2020) for monitoring-use by people at home using just the camera on their smartphone or tablet. This will additionally measure oxygen saturation and atrial fibrillation. Other devices are then not needed. [30]

Syndromes

Many conditions are indicated by a group of known signs, or signs and symptoms. These can be a group of three known as a triad; a group of four ("tetrad"); or a group of five ("pentad").[ citation needed ]

An example of a triad is Meltzer's triad presenting purpura a rash, arthralgia painful joints, and myalgia painful and weak muscles. Meltzer's triad indicates the condition cryoglobulinemia. Huntington's disease is a neurodegenerative disease that is characterized by a triad of motor, cognitive, and psychiatric signs and symptoms. [31] A large number of these groups that can be characteristic of a particular disease are known as a syndrome. Noonan syndrome for example, has a diagnostic set of unique facial and musculoskeletal features. [32] Some syndromes such as nephrotic syndrome may have a number of underlying causes that are all related to diseases that affect the kidneys. [33]

Sometimes a child or young adult may have symptoms suggestive of a genetic disorder that cannot be identified even after genetic testing. In such cases the term SWAN (syndrome without a name) may be used. Often a diagnosis may be made at some future point when other more specific symptoms emerge but many cases may remain undiagnosed. The inability to diagnose may be due to a unique combination of symptoms or an overlap of conditions, or to the symptoms being atypical of a known disorder, or to the disorder being extremely rare. [34]

It is possible that a person with a particular syndrome might not display every single one of the signs and/or symptoms that compose/define a syndrome.[ citation needed ]

Positive and negative

Sensory symptoms can also be described as positive symptoms, or as negative symptoms depending on whether the symptom is abnormally present such as tingling or itchiness, or abnormally absent such as loss of smell. The following terms are used for negative symptoms – hypoesthesia is a partial loss of sensitivity to moderate stimuli, such as pressure, touch, warmth, cold. Anesthesia is the complete loss of sensitivity to stronger stimuli, such as pinprick. Hypoalgesia (analgesia) is loss of sensation to painful stimuli. [35]

Symptoms are also grouped in to negative and positive for some mental disorders such as schizophrenia. [36] Positive symptoms are those that are present in the disorder and are not normally experienced by most individuals and reflects an excess or distortion of normal functions; [37] examples are hallucinations, delusions, and bizarre behavior.[ citation needed ] Negative symptoms are functions that are normally found but that are diminished or absent, such as apathy and anhedonia. [37]

Dynamic and static

Dynamic symptoms are capable of change depending on circumstance, whereas static symptoms are fixed or unchanging regardless of circumstance. For example, the symptoms of exercise intolerance are dynamic as they are brought on by exercise, but alleviate during rest. Fixed muscle weakness is a static symptom as the muscle will be weak regardless of exercise or rest.[ citation needed ]

A majority of patients with metabolic myopathies have dynamic rather than static findings, typically experiencing exercise intolerance, muscle pain, and cramps with exercise rather than fixed weakness. [38] Those with the metabolic myopathy of McArdle's disease (GSD-V) and some individuals with phosphoglucomutase deficiency (CDG1T/GSD-XIV), initially experience exercise intolerance during mild-moderate aerobic exercise, but the symptoms alleviate after 6–10 minutes in what is known as "second wind".

Neuropsychiatric

Neuropsychiatric symptoms are present in many degenerative disorders including dementia, and Parkinson's disease. Symptoms commonly include apathy, anxiety, and depression. [39] Neurological and psychiatric symptoms are also present in some genetic disorders such as Wilson's disease. [40] Symptoms of executive dysfunction are often found in many disorders including schizophrenia, and ADHD. [41] [42]

Radiologic

Radiologic signs are abnormal medical findings on imaging scanning. These include the Mickey Mouse sign and the Golden S sign. When using imaging to find the cause of a complaint, another unrelated finding may be found known as an incidental finding. [43]

Cardinal

Cardinal signs and symptoms are those that may be diagnostic, and pathognomonic – of a certainty of diagnosis. Inflammation for example has a recognised group of cardinal signs and symptoms, [44] as does exacerbations of chronic bronchitis, [45] and Parkinson's disease.

In contrast to a pathognomonic cardinal sign, the absence of a sign or symptom can often rule out a condition. This is known by the Latin term sine qua non . For example, the absence of known genetic mutations specific for a hereditary disease would rule out that disease. [46] Another example is where the vaginal pH is less than 4.5, a diagnosis of bacterial vaginosis would be excluded. [47]

Reflexes

A reflex is an automatic response in the body to a stimulus. [48] Its absence, reduced (hypoactive), or exaggerated (hyperactive) response can be a sign of damage to the central nervous system or peripheral nervous system. In the patellar reflex (knee-jerk) for example, its reduction or absence is known as Westphal's sign and may indicate damage to lower motor neurons. When the response is exaggerated damage to the upper motor neurons may be indicated.[ citation needed ]

Facies

A number of medical conditions are associated with a distinctive facial expression or appearance known as a facies. [49] An example is elfin facies which has facial features like those of the elf, and this may be associated with Williams syndrome, or Donohue syndrome. The most well-known facies is probably the Hippocratic facies that is seen on a person as they near death. [50]

Anamnestic signs

Anamnestic signs (from anamnēstikós, ἀναμνηστικός, "able to recall to mind") are signs that indicate a past condition, for example paralysis in an arm may indicate a past stroke. [51] : 81 

Asymptomatic

Some diseases including cancers, and infections may be present but show no signs or symptoms and these are known as asymptomatic. [13] A gallstone may be asymptomatic and only discovered as an incidental finding. [13] Easily spreadable viral infections such as COVID-19 may be asymptomatic but may still be transmissible. [52]

History

Symptomatology

A symptom (from Greek σύμπτωμα, "accident, misfortune, that which befalls", [53] from συμπίπτω, "I befall", from συν- "together, with" and πίπτω, "I fall") is a departure from normal function or feeling. Symptomatology (also called semiology) is a branch of medicine dealing with the signs and symptoms of a disease. [54] [55] [56] This study also includes the indications of a disease. [57] It was first described as semiotics by Henry Stubbe in 1670 a term now used for the study of sign communication.[ citation needed ]

Prior to the nineteenth century there was little difference in the powers of observation between physician and patient. Most medical practice was conducted as a co-operative interaction between the physician and patient; this was gradually replaced by a "monolithic consensus of opinion imposed from within the community of medical investigators". [58] [59] Whilst each noticed much the same things, the physician had a more informed interpretation of those things: "the physicians knew what the findings meant and the layman did not". [51] : 82 

Development of medical testing

Painting of Rene Laennec in 1816 using an early method of auscultation on a man with tuberculosis Laennec - Theobald Chartran.jpg
Painting of René Laennec in 1816 using an early method of auscultation on a man with tuberculosis

A number of advances introduced mostly in the 19th century, allowed for more objective assessment by the physician in search of a diagnosis, and less need of input from the patient. [58] [59] [60] During the 20th century the introduction of a wide range of imaging techniques and other testing methods such as genetic testing, clinical chemistry tests, molecular diagnostics and pathogenomics have made a huge impact on diagnostic capability. [61]

Diagnosis

The recognition of signs, and noting of symptoms may lead to a diagnosis. Otherwise a physical examination may be carried out, and a medical history taken. Further diagnostic medical tests such as blood tests, scans, and biopsies, may be needed. An X-ray for example would soon be diagnostic of a suspected bone fracture. A noted significance detected during an examination or from a medical test may be known as a medical finding. [65]

Examples

See also

Related Research Articles

<span class="mw-page-title-main">Catatonia</span> Psychiatric behavioural syndrome

Catatonia is a complex syndrome, most commonly seen in people with underlying mood or psychotic disorders. People with catatonia have abnormal movement and behaviors, which vary from person to person and fluctuate in intensity within a single episode. People with catatonia appear withdrawn, meaning that they do not interact with the outside world and have difficulty processing information. They may be nearly motionless for days on end or perform repetitive purposeless movements. Two people may exhibit very different sets of behaviors and both still be diagnosed with catatonia. Treatment with benzodiazepines or ECT are most effective and lead to remission of symptoms in most cases.

<span class="mw-page-title-main">Disease</span> Condition negatively affecting an organism

A disease is a particular abnormal condition that adversely affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders.

<span class="mw-page-title-main">Marfan syndrome</span> Genetic disorder involving connective tissue

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.

<span class="mw-page-title-main">Alice in Wonderland syndrome</span> Neurological disorder that distorts perception of objects size and distance

Alice in Wonderland Syndrome (AIWS), also known as Todd's Syndrome or Dysmetropsia, is a neurological disorder that distorts perception. People with this syndrome may experience distortions in their visual perception of objects, such as appearing smaller (micropsia) or larger (macropsia), or appearing to be closer (pelopsia) or farther (teleopsia) than they are. Distortion may also occur for senses other than vision.

<span class="mw-page-title-main">Dementia with Lewy bodies</span> Type of progressive dementia

Dementia with Lewy bodies (DLB) is a type of dementia characterized by changes in sleep, behavior, cognition, movement, and regulation of automatic bodily functions. Memory loss is not always an early symptom. The disease worsens over time and is usually diagnosed when cognitive impairment interferes with normal daily functioning. Together with Parkinson's disease dementia, DLB is one of the two Lewy body dementias. It is a common form of dementia, but the prevalence is not known accurately and many diagnoses are missed. The disease was first described on autopsy by Kenji Kosaka in 1976, and he named the condition several years later.

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 σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words syndrome, disease, and disorder end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the syndrome nomenclature. In other instances, a syndrome is not specific to only one disease. For example, toxic shock syndrome can be caused by various toxins; another medical syndrome named as premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms.

Encephalopathy means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes.

<span class="mw-page-title-main">Asymptomatic</span> Patient is a carrier for a disease or infection but experiences no symptoms

Asymptomatic is an adjective categorising the medical conditions that patients carry but without experiencing their symptoms, despite an explicit diagnosis.

<span class="mw-page-title-main">Cryoglobulinemia</span> Presence of cold-sensitive antibodies in the blood

Cryoglobulinemia is a medical condition in which the blood contains large amounts of pathological cold sensitive antibodies called cryoglobulins – proteins that become insoluble at reduced temperatures. This should be contrasted with cold agglutinins, which cause agglutination of red blood cells.

<span class="mw-page-title-main">Macroglossia</span> Enlargement of the tongue

Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause.

<span class="mw-page-title-main">Adie syndrome</span> Neurological disorder

Adie syndrome, also known as Holmes–Adie syndrome, is a neurological disorder characterized by a tonically dilated pupil that reacts slowly to light but shows a more definite response to accommodation. It is frequently seen in females with absent knee or ankle jerks and impaired sweating.

Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis.

<span class="mw-page-title-main">Organic brain syndrome</span> Disorder of mental function whose cause is alleged to be known as physiological

Organic brain syndrome, also known as organic brain disease, organic brain damage, organic brain disorder (OBD), organic mental syndrome, or organic mental disorder, refers to any syndrome or disorder of mental function whose cause is alleged to be known as organic (physiologic) rather than purely of the mind. These names are older and nearly obsolete general terms from psychiatry, referring to many physical disorders that cause impaired mental function. They are meant to exclude psychiatric disorders. Originally, the term was created to distinguish physical causes of mental impairment from psychiatric disorders, but during the era when this distinction was drawn, not enough was known about brain science for this cause-based classification to be more than educated guesswork labeled with misplaced certainty, which is why it has been deemphasized in current medicine. While mental or behavioural abnormalities related to the dysfunction can be permanent, treating the disease early may prevent permanent damage in addition to fully restoring mental functions. An organic cause to brain dysfunction is suspected when there is no indication of a clearly defined psychiatric or "inorganic" cause, such as a mood disorder.

In medicine, a prodrome is an early sign or symptom that often indicates the onset of a disease before more diagnostically specific signs and symptoms develop. More specifically, it refers to the period between the first recognition of a disease's symptom until it reaches its more severe form. It is derived from the Greek word prodromos, meaning "running before". Prodromes may be non-specific symptoms or, in a few instances, may clearly indicate a particular disease, such as the prodromal migraine aura.

<span class="mw-page-title-main">Neurological disorder</span> Any disorder of the nervous system

A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain, tauopathies, and altered levels of consciousness. There are many recognized neurological disorders, some are relatively common, but many are rare.

<span class="mw-page-title-main">Fraley syndrome</span> Medical condition

Fraley syndrome is a condition where the superior infundibulum of the upper calyx of the kidney is obstructed by the crossing renal artery branch, causing distension and dilatation of the calyx and presenting clinically as haematuria and nephralgia. Furthermore, when the renal artery obstructs the proximal collecting system, filling defects can occur anywhere in the calyces, pelvis, or ureter.

<span class="mw-page-title-main">Myalgic encephalomyelitis/chronic fatigue syndrome</span> Chronic medical condition

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling chronic illness. People with ME/CFS experience profound fatigue that does not go away with rest, as well as sleep issues and problems with memory or concentration. The hallmark symptom is post-exertional malaise, a worsening of the illness which starts hours to days after minor physical or mental activity. This "crash" can last from hours or days to several months. Further common symptoms include dizziness, nausea and pain.

<span class="mw-page-title-main">Vogt–Koyanagi–Harada disease</span> Medical condition

Vogt–Koyanagi–Harada disease (VKH) is a multisystem disease of presumed autoimmune cause that affects melanin-pigmented tissues. The most significant manifestation is bilateral, diffuse uveitis, which affects the eyes. VKH may variably also involve the inner ear, with effects on hearing, the skin, and the meninges of the central nervous system.

Radiologically isolated syndrome (RIS) is a clinical situation in which a person has white matter lesions suggestive of multiple sclerosis (MS), as shown on an MRI scan that was done for reasons unrelated to MS symptoms. The nerve lesions in these people show dissemination in space with an otherwise normal neurological examination and without historical accounts of typical MS symptoms.

<span class="mw-page-title-main">DiGeorge syndrome</span> Medical condition caused by chromosomal abnormality

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.

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