Functional disorders are 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. [1]
Functional disorders are common and complex phenomena that pose challenges to medical systems. Traditionally in western medicine, the body is thought of as consisting of different organ systems, but it is less well understood how the systems interconnect or communicate. Functional disorders can affect the interplay of several organ systems (for example gastrointestinal, respiratory, musculoskeletal or neurological) leading to multiple and variable symptoms. Less commonly there is a single prominent symptom or organ system affected.
Most symptoms that are caused by structural disease can also be caused by a functional disorder. Because of this, individuals often undergo many medical investigations before the diagnosis is clear. Though research is growing to support explanatory models of functional disorders, structural scans such as MRIs, or laboratory investigation such as blood tests do not usually explain the symptoms or the symptom burden. This difficulty in 'seeing' the processes underlying the symptoms of functional disorders has often resulted in these conditions being misunderstood and sometimes stigmatised within medicine and society.
Despite being associated with high disability, functional symptoms are not a threat to life, and are considered modifiable with appropriate treatment.[ citation needed ]
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Functional disorders are mostly understood as conditions characterised by:
There are many different functional disorder diagnoses that might be given depending on the symptom or syndrome that is most troublesome. There are many examples of symptoms that individuals may experience; some of these include persistent or recurrent pain, fatigue, weakness, shortness of breath or bowel problems. Single symptoms may be assigned a diagnostic label, such as "functional chest pain", "functional constipation" or "functional seizures". Characteristic collections of symptoms might be described as one of the functional somatic syndromes. [2] A syndrome is a collection of symptoms. Somatic means 'of the body'. Examples of functional somatic syndromes include: irritable bowel syndrome; cyclic vomiting syndrome; some persistent fatigue and chronic pain syndromes, such as fibromyalgia (chronic widespread pain), or chronic pelvic pain; interstitial cystitis; functional neurologic disorder; and multiple chemical sensitivity.[ citation needed ]
Most medical specialties define their own functional somatic syndrome, and a patient may end up with several of these diagnoses without understanding how they are connected. There is overlap in symptoms between all the functional disorder diagnoses. For example, it is not uncommon to have a diagnosis of irritable bowel syndrome (IBS) and chronic widespread pain/fibromyalgia. [3] All functional disorders share risk factors and factors that contribute to their persistence. Increasingly researchers and clinicians are recognising the relationships between these syndromes.[ citation needed ]
The terminology for functional disorders has been fraught with confusion and controversy, with many different terms used to describe them. Sometimes functional disorders are equated or mistakenly confused with diagnoses like category of "somatoform disorders", "medically unexplained symptoms", "psychogenic symptoms" or "conversion disorders". Many historical terms are now no longer thought of as accurate, and are considered by many to be stigmatising. [4]
Psychiatric illnesses have historically also been considered as functional disorders in some classification systems, as they often fulfil the criteria above. Whether a given medical condition is termed a functional disorder depends in part on the state of knowledge. Some diseases, such as epilepsy, were historically categorized as functional disorders but are no longer classified that way.
Functional disorders can affect individuals of all ages, ethnic groups and socioeconomic backgrounds. In clinical populations, functional disorders are common and have been found to present in around one-third of consultations in both specialist practice [5] and primary care. [6] Chronic courses of disorders are common and are associated with high disability, health-care usage and social costs. [7]
Rates differ in the clinical population compared with the general population, and will vary depending on the criteria used to make the diagnosis. For example, irritable bowel syndrome is thought to affect 4.1%, [8] and fibromyalgia 0.2–11.4% of the global population. [9]
A recent large study carried out on population samples in Denmark showed the following: In total, 16.3% of adults reported symptoms fulfilling the criteria for at least one Functional Somatic Syndrome, and 16.1% fulfilled criteria for Bodily Distress Syndrome. [10]
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The diagnosis of functional disorders is usually made in the healthcare setting most often by a doctor — this could be a primary care physician or family doctor, hospital physician or specialist in the area of psychosomatic medicine or a consultant-liaison psychiatrist. The primary care physician or family doctor will generally play an important role in coordinating treatment with a secondary care clinician if necessary.
The diagnosis is essentially clinical, whereby the clinician undertakes a thorough medical and mental health history and physical examination. Diagnosis should be based on the nature of the presenting symptoms, and is a "rule in" as opposed to "rule out" diagnosis — this means it is based on the presence of positive symptoms and signs that follow a characteristic pattern. There is usually a process of clinical reasoning to reach this point and assessment might require several visits, ideally with the same doctor.
In the clinical setting, there are no laboratory or imaging tests that can consistently be used to diagnose the conditions; however, as is the case with all diagnoses, often additional diagnostic tests (such as blood tests, or diagnostic imaging) will be undertaken to consider the presence of underlying disease. There are however diagnostic criteria that can be used to help a doctor assess whether an individual is likely to suffer from a particular functional syndrome. These are usually based on the presence or absence of characteristic clinical signs and symptoms. Self-report questionnaires may also be useful.
There has been a tradition of a separate diagnostic classification systems for "somatic" and "mental" disorder classifications. Currently, the 11th version of the International Classification System of Diseases (ICD-11) has specific diagnostic criteria for certain disorders which would be considered by many clinicians to be functional somatic disorders, such as IBS or chronic widespread pain/fibromyalgia, and dissociative neurological symptom disorder. [11]
In the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders ( DSM-5 ) the older term somatoform (DSM-IV) has been replaced by somatic symptom disorder , which is a disorder characterised by persistent somatic (physical) symptoms, and associated psychological problems to the degree that it interferes with daily functioning and causes distress. (APA, 2022). Bodily distress disorder is a related term in the ICD-11.
Somatic symptom disorder and bodily distress disorder have significant overlap with functional disorders and are often assigned if someone would benefit from psychological therapies addressing psychological or behavioural factors which contribute to the persistence of symptoms. However, people with symptoms partly explained by structural disease (for example, cancer) may also meet the criteria for diagnosis of functional disorders, somatic symptom disorder and bodily distress disorder. [12]
It is not unusual for a functional disorder to coexist with another diagnosis (for example, functional seizures can coexist with epilepsy, [13] or irritable bowel syndrome with inflammatory bowel disease. [14] This is important to recognise as additional treatment approaches might be indicated in order that the patient achieves adequate relief from their symptoms.
The diagnostic process is considered an important step in order for treatment to move forward successfully. When healthcare professionals are giving a diagnosis and carrying out treatment, it is important to communicate openly and honestly and not to fall into the trap of dualistic concepts – that is "either mental or physical" thinking; or attempt to "reattribute" symptoms to a predominantly psychosocial cause. [15] It often important to recognise the need to cease unnecessary additional diagnostic testing if a clear diagnosis has been established . [16]
Explanatory models that support our understanding of functional disorders take into account the multiple factors involved in symptom development. A personalised, tailored approach is usually needed in order to consider the factors which relate to that individual's biomedical, psychological, social, and material environment. [17]
More recent functional neuroimaging studies have suggested malfunctioning of neural circuits involved in stress processing, emotional regulation, self-agency, interoception, and sensorimotor integration. [18] A recent article in Scientific American proposed that important brain structures suspected in the pathophysiology of functional neurological disorder include increased activity of the amygdala and decreased activity within the right temporoparietal junction. [19]
Healthcare professionals might find it useful to consider three main categories of factors: predisposing, precipitating, and perpetuating (maintaining) factors.
These are factors that make the person more vulnerable to the onset of a functional disorder; and include biological, psychological and social factors. Like all health conditions, some people are probably predisposed to develop functional disorders due to their genetic make-up. However, no single genes have been identified that are associated with functional disorders. Epigenetic mechanisms (mechanisms that affect interaction of genes with their environment) are likely to be important, and have been studied in relation to the hypothalamic–pituitary–adrenal axis. [20] Other predisposing factors include current or prior somatic/physical illness or injury, and endocrine, immunological or microbial factors. [21]
Functional disorders are diagnosed more frequently in female patients. [22] The reasons for this are complex and multifactorial, likely to include both biological and social factors. Female sex hormones might affect the functioning of the immune system, for example. [23] Medical bias possibly contributes to the sex differences in diagnosis: women are more likely to be diagnosed than men with a functional disorder by doctors. [24]
People with functional disorders also have higher rates of pre-existing mental and physical health conditions, including depression and anxiety disorders, [25] Post-traumatic stress disorder, [26] multiple sclerosis and epilepsy. [27] Personality style has been suggested as a risk factor in the development of functional disorders but the effect of any individual personality trait is variable and weak. [28] [29] Alexithymia (difficulties recognising and naming emotions) has been widely studied in patients with functional disorders and is sometimes addressed as part of treatment. [30] Migration, cultural and family understanding of illness, are also factors that influence the chance of an individual developing a functional disorder. [31] Being exposed to illness in the family while growing up or having parents who are healthcare professionals are sometimes considered risk factors. Adverse childhood experiences and traumatic experiences of all kinds are known important risk factors. [32] [33] [26] Newer hypotheses have suggested minority stressors may play a role in the development of functional disorders in marginalized communities. [34] [35]
These are the factors that for some patients appear to trigger the onset of a functional disorder. Typically, these involve either an acute cause of physical or emotional stress, for example an operation, a viral illness, a car accident, a sudden bereavement, or a period of intense and prolonged overload of chronic stressors (for example relationship difficulties, job or financial stress, or caring responsibilities). Not all affected individuals will be able to identify obvious precipitating factors and some functional disorders develop gradually over time.
These are the factors that contribute to the development of functional disorder as a persistent condition and maintaining symptoms. These can include the condition of the physiological systems including the immune and neuroimmune systems, the endocrine system, the musculoskeletal system, the sleep-wake cycle, the brain and nervous system, the person's thoughts and experience, their experience of the body, social situation and environment. All these layers interact with each other. Illness mechanisms are important therapeutically as they are seen as potential targets of treatment. [36]
The exact illness mechanisms that are responsible for maintaining an individual's functional disorder should be considered on an individual basis. However, various models have been suggested to account for how symptoms develop and continue. For some people there seems to be a process of central-sensitisation, [37] chronic low grade inflammation [38] or altered stress reactivity mediated through the hypothalamic-pituitary-adrenal (HPA) axis (Fischer et al., 2022). For some people attentional mechanisms are likely to be important. [39] Commonly, illness-perceptions or behaviours and expectations (Henningsen, Van den Bergh et al. 2018 ) contribute to maintaining an impaired physiological condition.
Perpetuating illness mechanisms are often conceptualized as "vicious cycles", which highlights the non-linear patterns of causality characteristic of these disorders. [40] Other people adopt a pattern of trying to achieve a lot on "good days" which results in exhaustion for days following and a flare up of symptoms, which has led to various energy management tools being used the patient community, such as "spooning". [41]
Depression, PTSD, sleep disorders, and anxiety disorders can also perpetuate functional disorders and should be identified and treated where they are present. Side effects or withdrawal effects of medication often need to be considered. Iatrogenic factors such as lack of a clear diagnosis, not feeling believed or not taken seriously by a healthcare professional, multiple (invasive) diagnostic procedures, ineffective treatments and not getting an explanation for symptoms can increase worry and unhelpful illness behaviours. Stigmatising medical attitudes and unnecessary medical interventions (tests, surgeries or drugs) can also cause harm and worsen symptoms. [42]
Functional disorders can be treated successfully and are considered reversible conditions. Treatment strategies should integrate biological, psychological and social perspectives. The body of research around evidence-based treatment in functional disorders is growing. [43]
With regard to self-management, there are many basic things that can be done to optimise recovery. Learning about and understanding the condition is helpful in itself. [44] Many people are able to use bodily complaints as a signal to slow down and reassess their balance between exertion and recovery. Bodily complaints can be used as a signal to begin incorporating stress reduction and balanced lifestyle measures (routine, regular activity and relaxation, diet, social engagement) that can help reduce symptoms and are central to improving quality of life. Mindfulness practice can be helpful for some people. [45] Family members or friends can also be helpful in supporting recovery.
Most affected people benefit from support and encouragement in this process, ideally through a multi-disciplinary team with expertise in treating functional disorders. Family members or friends may also be helpful in supporting recovery. The aim of treatment overall is to first create the conditions necessary for recovery, and then plan a programme of rehabilitation to re-train mind-body connections making use of the body's ability to change. Particular strategies can be taught to manage bowel symptoms, pain or seizures. [43] Though medication alone should not be considered curative in functional disorders, medication to reduce symptoms might be indicated in some instances, for example where mood or pain is a significant issue, preventing adequate engagement in rehabilitation. It is important to address accompanying factors such as sleep disorders, pain, depression and anxiety, and concentration difficulties.
Physiotherapy may be relevant for exercise and activation programs, or when weakness or pain is a problem. [46] Psychotherapy might be helpful to explore a pattern of thoughts, actions and behaviours that could be driving a negative cycle – for example tackling illness expectations or preoccupations about symptoms. [47] Some existing evidence-based treatments include cognitive behavioural therapy (CBT) for functional neurological disorder; [48] physiotherapy for functional motor symptoms, [49] and dietary modification or gut targeting agents for irritable bowel syndrome. [50]
Despite some progress in the last decade, people with functional disorders continue to suffer subtle and overt forms of discrimination by clinicians, researchers and the public. Stigma is a common experience for individuals who present with functional symptoms and is often driven by historical narratives and factual inaccuracies. Given that functional disorders do not usually have specific biomarkers or findings on structural imaging that are typically undertaken in routine clinical practice, this leads to potential for symptoms to be misunderstood, invalidated, or dismissed, leading to adverse experiences when individuals are seeking help. [51]
Part of this stigma is also driven by theories around "mind body dualism", which frequently surfaces as an area of importance for patients, researchers and clinicians in the realm of functional disorders. Artificial separation of the mind/brain/body (for example the use of phrases such as; "physical versus psychological" or "organic versus non-organic") furthers misunderstanding and misconceptions around these disorders, and only serves to hinder progress in scientific domain and for patients seeking treatment. Some patient groups have fought to have their illnesses not classified as functional disorders, because in some insurance based health-care systems these have attracted lower insurance payments. [52] Current research is moving away from dualistic theories, and recognising the importance of the whole person, both mind and body, in diagnosis and treatment of these conditions.
People with functional disorders frequently describe experiences of doubt, blame, and of being seen as less 'genuine' than those with other disorders. Some clinicians perceive those individuals with functional disorders are imagining their symptoms, are malingering, or doubt the level of voluntary control they have over their symptoms. As a result, individuals with these disorders often wait long periods of time to be seen by specialists and receive appropriate treatment. [53] Currently, there is a lack of specialised treatment services for functional disorders in many countries. [54] However, research is growing in this area, and it is hoped that the implementation of the increased scientific understanding of functional disorders and their treatment will allow effective clinical services supporting individuals with functional disorders to develop. [55] Patient membership organisations/advocate groups have been instrumental in gaining recognition for individuals with these disorders. [56] [57]
Directions for research involve understanding more about the processes underlying functional disorders, identifying what leads to symptom persistence and improving integrated care/treatment pathways for patients.
Research into the biological mechanisms which underpin functional disorders is ongoing. Understanding how stress effects the body over a lifetime, [58] for example via the immune [59] [60] endocrine [20] and autonomic nervous systems, is important Ying-Chih et.al 2020, Tak et. al. 2011, Nater et al. 2011). Subtle dysfunctions of these systems, for example through low grade chronic inflammation, [61] [62] or dysfunctional breathing patterns, [63] are increasingly thought to underlie functional disorders and their treatment. However, more research is needed before these theoretical mechanisms can be used clinically to guide treatment for an individual patient.
Psychosomatic medicine is an interdisciplinary medical field exploring the relationships among social, psychological, behavioral factors on bodily processes and quality of life in humans and animals.
Hypochondriasis or hypochondria also known as syndrome is a condition in which a person is excessively and unduly worried about having a serious illness. Hypochondria is an old concept whose meaning has repeatedly changed over its lifespan. It has been claimed that this debilitating condition results from an inaccurate perception of the condition of body or mind despite the absence of an actual medical diagnosis. An individual with hypochondriasis is known as a hypochondriac. Hypochondriacs become unduly alarmed about any physical or psychological symptoms they detect, no matter how minor the symptom may be, and are convinced that they have, or are about to be diagnosed with, a serious illness.
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day.
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by a group of symptoms that commonly include abdominal pain, abdominal bloating and changes in the consistency of bowel movements. These symptoms may occur over a long time, sometimes for years. IBS can negatively affect quality of life and may result in missed school or work or reduced productivity at work. Disorders such as anxiety, major depression, and chronic fatigue syndrome are common among people with IBS.
Fatigue describes a state of tiredness, exhaustion or loss of energy.
Fibromyalgia is a medical condition which causes chronic widespread pain, accompanied by fatigue, waking unrefreshed and cognitive symptoms. Other symptoms include headaches, lower abdominal pain or cramps, and depression. People with fibromyalgia can also experience insomnia and a general hypersensitivity.
Somatization disorder was a mental and behavioral disorder characterized by recurring, multiple, and current, clinically significant complaints about somatic symptoms. It was recognized in the DSM-IV-TR classification system, but in the latest version DSM-5, it was combined with undifferentiated somatoform disorder to become somatic symptom disorder, a diagnosis which no longer requires a specific number of somatic symptoms. ICD-10, the latest version of the International Statistical Classification of Diseases and Related Health Problems, still includes somatization syndrome.
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome.
Functional gastrointestinal disorders (FGID), also known as disorders of gut–brain interaction, include a number of separate idiopathic disorders which affect different parts of the gastrointestinal tract and involve visceral hypersensitivity and motility disturbances.
The Bristol stool scale is a diagnostic medical tool designed to classify the form of human faeces into seven categories. It is used in both clinical and experimental fields.
Post-concussion syndrome (PCS), also known as persisting symptoms after concussion, is a set of symptoms that may continue for weeks, months, or years after a concussion. PCS is medically classified as a mild traumatic brain injury (TBI). About 35% of people with concussion experience persistent or prolonged symptoms 3 to 6 months after injury. Prolonged concussion is defined as having concussion symptoms for over four weeks following the first accident in youth and for weeks or months in adults.
Medically unexplained physical symptoms are symptoms for which a treating physician or other healthcare providers have found no medical cause, or whose cause remains contested. In its strictest sense, the term simply means that the cause for the symptoms is unknown or disputed—there is no scientific consensus. Not all medically unexplained symptoms are influenced by identifiable psychological factors. However, in practice, most physicians and authors who use the term consider that the symptoms most likely arise from psychological causes. Typically, the possibility that MUPS are caused by prescription drugs or other drugs is ignored. It is estimated that between 15% and 30% of all primary care consultations are for medically unexplained symptoms. A large Canadian community survey revealed that the most common medically unexplained symptoms are musculoskeletal pain, ear, nose, and throat symptoms, abdominal pain and gastrointestinal symptoms, fatigue, and dizziness. The term MUPS can also be used to refer to syndromes whose etiology remains contested, including chronic fatigue syndrome, fibromyalgia, multiple chemical sensitivity and Gulf War illness.
A functional symptom is a medical symptom with no known physical cause. In other words, there is no structural or pathologically defined disease to explain the symptom. The use of the term 'functional symptom' does not assume psychogenesis, only that the body is not functioning as expected. Functional symptoms are increasingly viewed within a framework in which 'biological, psychological, interpersonal and healthcare factors' should all be considered to be relevant for determining the aetiology and treatment plans.
Somatization is a tendency to experience and communicate psychological distress as bodily and organic symptoms and to seek medical help for them. More commonly expressed, it is the generation of physical symptoms of a psychiatric condition such as anxiety. The term somatization was introduced by Wilhelm Stekel in 1924.
Somatosensory amplification (SSA) is a tendency to perceive normal somatic and visceral sensations as being relatively intense, disturbing and noxious. It is a common feature of hypochondriasis and is commonly found with fibromyalgia, major depressive disorder, some anxiety disorders, Asperger syndrome, and alexithymia. One common clinical measure of SSA is the Somatosensory Amplification Scale (SSAS).
Depression, one of the most commonly diagnosed psychiatric disorders, is being diagnosed in increasing numbers in various segments of the population worldwide. Depression in the United States alone affects 17.6 million Americans each year or 1 in 6 people. Depressed patients are at increased risk of type 2 diabetes, cardiovascular disease and suicide. Within the next twenty years depression is expected to become the second leading cause of disability worldwide and the leading cause in high-income nations, including the United States. In approximately 75% of suicides, the individuals had seen a physician within the prior year before their death, 45–66% within the prior month. About a third of those who died by suicide had contact with mental health services in the prior year, a fifth within the preceding month.
Somatic symptom disorder, also known as somatoform disorder, is defined by one or more chronic physical symptoms that coincide with excessive and maladaptive thoughts, emotions, and behaviors connected to those symptoms. The symptoms are not deliberately produced or feigned, and they may or may not coexist with a known medical ailment.
Abdominal migraine(AM) is a functional disorder that usually manifests in childhood and adolescence, without a clear pathologic mechanism or biochemical irregularity. Children frequently experience sporadic episodes of excruciating central abdominal pain accompanied by migrainous symptoms like nausea, vomiting, severe headaches, and general pallor. Abdominal migraine can be diagnosed based off clinical criteria and the exclusion of other disorders.
Functional neurologic disorder or functional neurological disorder (FND) is a condition in which patients experience neurological symptoms such as weakness, movement disorders, sensory symptoms, and blackouts. As a functional disorder, there is by definition no known disease process affecting the structure of the body, yet the person experiences symptoms relating to their body function. Symptoms of functional neurological disorders are clinically recognisable, but are not categorically associated with a definable organic disease.
The term functional somatic syndrome (FSS) refers to a group of chronic diagnoses with no identifiable organic cause. This term was coined by Hemanth Samkumar. It encompasses disorders such as chronic fatigue syndrome, fibromyalgia, chronic widespread pain, temporomandibular disorder, irritable bowel syndrome, lower back pain, tension headache, atypical face pain, non-cardiac chest pain, insomnia, palpitation, dyspepsia and dizziness. General overlap exists between this term, somatization and somatoform.