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The hallmark sign of POTS is a measured increase in heart rate by at least 30 beats per minute within 10 minutes of assuming an upright position. For people aged between 12 and 19, the minimum increase for diagnosis is 40 beats per minute. This symptom is known as orthostatic (upright) tachycardia (fast heart rate). It occurs without any coinciding drop in blood pressure, as that would indicate orthostatic hypotension. It should be noted, however, that certain medications to treat POTS may cause orthostatic hypotension. It is accompanied by other features of orthostatic intolerance—symptoms which develop in an upright position and are relieved by reclining. These orthostatic symptoms include palpitations, light-headedness, chest discomfort, shortness of breath, nausea, weakness or "heaviness" in the lower legs, blurred vision and cognitive difficulties. Symptoms may be exacerbated with prolonged sitting, prolonged standing, alcohol, heat, exercise, or eating a large meal.
In up to one third of people with POTS, fainting occurs in response to postural changes or exercise. Migraine-like headaches are common, sometimes with symptoms worsening in an upright position (orthostatic headache). Some people with POTS develop acrocyanosis, or blotchy, red/blue skin upon standing, especially over the feet (indicative of blood pooling). 48% of people with POTS report chronic fatigue and 32% report sleep disturbances. Others exhibit only the cardinal symptom of orthostatic tachycardia.
POTS can co-occur in all types of Ehlers–Danlos syndrome (EDS), a hereditary connective tissue disorder marked by loose hypermobile joints prone to subluxations and dislocations, skin that exhibits moderate or greater laxity, easy bruising, and many other symptoms. A trifecta of POTS, EDS, and Mast Cell Activation Syndrome (MCAS) is becoming increasingly more common, with a genetic marker common among all three conditions. POTS is also often accompanied by vasovagal syncope, with a 25% overlap being reported. There is significant overlap between POTS and chronic fatigue syndrome, with evidence of POTS in 25–50% of CFS cases. Fatigue and reduced exercise tolerance are prominent symptoms of both conditions, and dysautonomia may underlie both conditions.
The symptoms of POTS can be caused by several distinct pathophysiological mechanisms. These mechanisms are poorly understood, and can overlap, with many people showing features of multiple POTS types. Many people with POTS exhibit low blood volume (hypovolemia), which can decrease the rate of blood flow to the heart. To compensate for this, the heart increases its cardiac output by beating faster, leading to the symptoms of presyncope and reflex tachycardia.
In the 30% to 60% of cases classified as "hyperadrenergic POTS", norepinephrine levels are elevated on standing, often due to hypovolemia or partial autonomic neuropathy. A smaller minority of people with POTS have (typically very high) standing norepinephrine levels that are elevated even in the absence of hypovolemia and autonomic neuropathy; this is classified as "central hyperadrenergic POTS". The high norepinephrine levels contribute to symptoms of tachycardia. Another subtype, "neuropathic POTS", is associated with denervation of sympathetic nerves in the lower limbs. In this subtype, it is thought that impaired constriction of the blood vessels causes blood to pool in the veins of the lower limbs. Heart rate increases to compensate for this blood pooling.
Genetics likely plays a role, with one study finding that 1 in 8 POTS patients reported a history of orthostatic intolerance in their family. In up to 50% of cases, POTS is associated with recent viral illness. It may also be associated with physical deconditioning or chronic fatigue syndrome. During viral illness or prolonged bed rest, the body may become conditioned to orthostatic intolerance and excitability of the central nervous system, resulting in a failure to re-adapt to the normal demands of standing or exercise.
POTS is more common in females than males. It has also been shown to be linked in patients with acute stressors such as pregnancy, recent surgery, or recent trauma. POTS has been also linked to patients with a history of autoimmune diseases, IBS, anemia, hyperthyroidism, fibromyalgia, diabetes, amyloidosis, sarcoidosis, systemic lupus erythmatosus, and cancer.
If POTS is caused by another condition, it may be classified as "secondary POTS". Chronic diabetes mellitus is one frequently seen primary cause. POTS can also be secondary to gastrointestinal disorders that are associated with low fluid intake due to nausea or fluid loss through diarrhea, leading to hypovolemia.
There are a subset of patients that present with both POTS and mast cell activation syndrome (MCAS), and it is not yet clear whether MCAS is a secondary cause of POTS or simply comorbid, however treating MCAS for these patients can significantly improve POTS symptoms.
POTS can sometimes be a paraneoplastic syndrome associated with cancer. Autoantibodies have been found in some cases which occur after a viral infection raising the possibility of some cases being autoimmune in nature.
Symptoms of Da Costa's syndrome include fatigue upon exertion, shortness of breath, palpitations, sweating, and chest pain. Physical examination reveals no physical abnormalities causing the symptoms.
Da Costa's syndrome is generally considered a physical manifestation of an anxiety disorder.
The symptoms of Dysautonomia, which are numerous and vary widely for each individual, are due to inefficient or unbalanced efferent signals sent via both systems. The primary symptoms in individuals with dysautonomia include
Dysautonomia 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 diseases can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, autonomic failure, postural orthostatic tachycardia syndrome, and autonomic neuropathy.
The diagnosis is achieved through functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysautonomia, and some disease processes can be directly treated .
Upper airway resistance syndrome or UARS is a common sleep disorder characterized by the narrowing of the airway that can cause disruptions to sleep. The primary symptoms include excessive fatigue and chronic insomnia. UARS can be diagnosed by polysomnography, and can be treated with lifestyle changes, dental devices, or CPAP therapy. UARS is similar to certain types of sleep apneas.
Functional somatic syndrome is a term used to refer to physical symptoms that are poorly explained. It encompass 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.
A functional disorder is a medical condition that impairs the normal function of a bodily process, but where every part of the body looks completely normal under examination, dissection or even under a microscope. This stands in contrast to a structural disorder (in which some part of the body can be seen to be abnormal) or a psychosomatic disorder (in which symptoms are caused by psychological or psychiatric illness). Definitions vary somewhat between fields of medicine.
Generally, the mechanism that causes a functional disorder is unknown, poorly understood, or occasionally unimportant for treatment purposes. The brain or nerves are often believed to be involved. It is common that a person with one functional disorder will have others.
Functional somatic syndrome is characterized by ambiguous, non-specific symptoms that appear in otherwise-healthy populations. Overlap exists in different syndromes, including gastrointestinal issues, pain, fatigue, cognitive difficulties, and sleep difficulties. Some have proposed to group symptoms into clusters or into one general functional somatic disorder given the finding of correlations between symptoms and underlying etiologies.
Irritable Bowel Syndrome (IBS),
Fibromyalgia (FMS),
Chronic Fatigue Syndrome (CFS),
Chronic Pelvic Pain (CPP),
Interstitial Cystitis (IC),
Temporomandibular Joint Pain (TMJ), Functional Neurological Symptom Disorder (FNsD),
Non-Cardiac Chest Pain (NCCP),
Post-Traumatic Stress Disorder (PTSD),
Dysuria (Pain On Urination),
and Multiple Chemical Sensitivity
Symptoms of UARS are similar to those of obstructive sleep apnea, but are usually less severe. Fatigue, daytime sleepiness, unrefreshing sleep, and frequent awakenings during sleep are the most common symptoms.
Many patients experience chronic insomnia that creates both a difficulty falling asleep and staying asleep. As a result, patients typically experience frequent sleep disruptions. Loud snoring also serves as a possible indicator of the syndrome, but is not a symptom required for diagnosis.
Some patients experience hypotension, which may cause lightheadedness, and patients with UARS are also more likely to experience headaches and irritable bowel syndrome.
The effects of the disease can have profound effects on everyday life. As well, the recurring side effects of excessive belching, dizziness, dry mouth, hangovers, disorientation, irritable bowel syndrome, and chronic fatigue syndrome can lead to other health problems such as depression, anxiety and poor productivity in employment. The random state of intoxication can lead to personal difficulties, and the relative obscurity of the condition can also make it hard to seek treatment.
Functional gastrointestinal disorders (FGID) include a number of separate idiopathic disorders which affect different parts of the gastrointestinal tract and involve visceral hypersensitivity and impaired gastrointestinal motility.
Functional gastrointestinal disorders are very common. Globally, irritable bowel syndrome and functional dyspepsia alone may affect 16–26% of the population.
Affected individuals typically experience limited relief from standard pain relieving medication, with the exception of some neuroleptic agents. Patients frequently experience 'pseudovisceral' phenomena or symptoms of altered autonomic nervous system function including nausea, bloating, abdominal swelling, loss of appetite with consecutively lowered body weight or an altered defecation process.
Pain is typically related to tensing the abdominal wall muscles, so any type of movement is prone to aggravate pain. Lying quietly can be the least painful position. Most patients report that they cannot sleep on the painful side.
The defining symptoms of fibromyalgia are chronic widespread pain, fatigue, sleep disturbance, and heightened pain in response to tactile pressure (allodynia). Other symptoms may include tingling of the skin (paresthesias), prolonged muscle spasms, weakness in the limbs, nerve pain, muscle twitching, palpitations, and functional bowel disturbances.
Many people experience cognitive dysfunction (known as "fibrofog"), which may be characterized by impaired concentration, problems with short and long-term memory, short-term memory consolidation, impaired speed of performance, inability to multi-task, cognitive overload, and diminished attention span. Fibromyalgia is often associated with anxiety and depressive symptoms.
Other symptoms often attributed to fibromyalgia that may be due to a comorbid disorder include myofascial pain syndrome, also referred to as chronic myofascial pain, diffuse non-dermatomal paresthesias, functional bowel disturbances and irritable bowel syndrome, genitourinary symptoms and interstitial cystitis, dermatological disorders, headaches, myoclonic twitches, and symptomatic hypoglycemia. Although fibromyalgia is classified based on the presence of chronic widespread pain, pain may also be localized in areas such as the shoulders, neck, low back, hips, or other areas. Many sufferers also experience varying degrees of myofascial pain and have high rates of comorbid temporomandibular joint dysfunction. 20–30% of people with rheumatoid arthritis and systemic lupus erythematosus may also have fibromyalgia.
Auto-brewery syndrome, also known as gut fermentation syndrome, is a rare medical condition in which intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system. One gastrointestinal organism, "Saccharomyces cerevisiae", a type of yeast, has been identified as a pathogen for this condition.
Claims of endogenous fermentation of this type have been used as a defense against drunk driving charges.
One case went undetected for 20 years.
It has also been investigated, but eliminated, as a possible cause of sudden infant death syndrome.
A variant occurs in persons with liver abnormalities that prevent them from excreting or breaking down alcohol normally. Patients with this condition can develop symptoms of auto-brewery syndrome even when the gut yeast produces a quantity of alcohol that is too small to intoxicate a healthy individual.
Chronic idiopathic constipation is similar to constipation-predominant irritable bowel syndrome (IBS-C); however, people with CIC do not have other symptoms of IBS, such as abdominal pain. Diagnosing CIC can be difficult as other syndromes must be ruled out as there is no physiological cause for CIC. Doctors will typically look for other symptoms, such as blood in stool, weight loss, low blood count, or other symptoms.
To be considered functional constipation, symptoms must be present at least a fourth of the time.
Possible causes are:
- Anismus
- Descending perineum syndrome
- Other inability or unwillingness to control the external anal sphincter, which normally is under voluntary control
- A poor diet
- An unwillingness to defecate
- Nervous reactions, including prolonged and/or chronic stress and anxiety, that close the internal anal sphincter, a muscle that is not under voluntary control
- Deeper psychosomatic disorders which sometimes affect digestion and the absorption of water in the colon
There is also possibility of presentation with other comorbid symptoms such as headache, especially in children.
Functional constipation, known as chronic idiopathic constipation (CIC), is constipation that does not have a physical (anatomical) or physiological (hormonal or other body chemistry) cause. It may have a neurological, psychological or psychosomatic cause. A person with functional constipation may be healthy, yet has difficulty defecating.
Constipation is a symptom, not a disease. Most commonly, constipation is thought of as infrequent bowel movements, usually less than 3 stools per week. However, people may have other complaints as well including:
- Straining with bowel movements
- Excessive time needed to pass a bowel movement
- Hard stools
- Pain with bowel movements secondary to straining
- Abdominal pain
- Abdominal bloating.
- the sensation of incomplete bowel evacuation.
The Rome Criteria are a set of symptoms that help standardize the diagnosis of constipation in various age groups. These criteria help physicians to better define constipation in a standardized manner.
Fibromyalgia is classed as a disorder of pain processing due to abnormalities in how pain signals are processed in the central nervous system. The American College of Rheumatology classifies fibromyalgia as being a functional somatic syndrome. The expert committee of the European League Against Rheumatism classifies fibromyalgia as a neurobiological disorder and as a result exclusively give pharmacotherapy their highest level of support. The International Classification of Diseases (ICD-10) lists fibromyalgia as a diagnosable disease under "Diseases of the musculoskeletal system and connective tissue," under the code M79-7, and states that fibromyalgia syndrome should be classified as a functional somatic syndrome rather than a mental disorder. Although mental disorders and some physical disorders commonly are co-morbid with fibromyalgia – especially anxiety, depression, irritable bowel syndrome, and chronic fatigue syndrome – the ICD states that these should be diagnosed separately.
Differences in psychological and autonomic nervous system profiles among affected individuals may indicate the existence of fibromyalgia subtypes. A 2007 review divides individuals with fibromyalgia into four groups as well as "mixed types":
1. "extreme sensitivity to pain but no associated psychiatric conditions" (may respond to medications that block the 5-HT3 receptor)
2. "fibromyalgia and comorbid, pain-related depression" (may respond to antidepressants)
3. "depression with concomitant fibromyalgia syndrome" (may respond to antidepressants)
4. "fibromyalgia due to somatization" (may respond to psychotherapy)
Distinguish between acute (days to weeks) or chronic (months to years) onset of constipation because this information changes the differential diagnosis. This in the context of accompanied symptoms help physicians discover the cause of constipation. People often describe their constipation as bowel movements that are difficult to pass, firm stool with lumpy or hard consistency, and excessive straining during bowel movements. Bloating, abdominal distension, and abdominal pain often accompany constipation. Chronic constipation (symptoms present at least three days per month for more than three months) associated with abdominal discomfort is often diagnosed as irritable bowel syndrome (IBS) when no obvious cause is found.
Poor dietary habits, previous abdominal surgeries, and certain medical conditions can contribute to constipation. Diseases associated with constipation include hypothyroidism, certain types of cancer, and irritable bowel syndrome. Low fiber intake, inadequate amounts of fluids, poor ambulation or immobility, or medications can contribute to constipation. Once the presence of constipation is identified based on a culmination of the symptoms described above, then the cause of the constipation should be figured out.
Separating non-life-threatening from serious causes may be partly based on symptoms. For example, colon cancer may be suspected if a person has a family history of colon cancer, fever, weight loss, and rectal bleeding. Other alarming signs and symptoms include family or personal history of inflammatory bowel disease, age of onset over 50, change in stool caliber, nausea, vomiting, and neurological symptoms like weakness, numbness and difficulty urinating.
Signs and symptoms can include:
- hypoglycemia
- lethergy
- hepatomegaly
- muscle pain
- cardiomyopathy
Anterior cutaneous nerve entrapment syndrome (ACNES) is a nerve entrapment condition that causes chronic pain of the abdominal wall. It occurs when nerve endings of the lower thoracic intercostal nerves (7–12) are 'entrapped' in abdominal muscles, causing a severe localized nerve (neuropathic) pain that is usually experienced at the front of the abdomen.
ACNES syndrome is frequently overlooked and unrecognized, although the incidence is estimated to be 1:2000 patients.
The relative unfamiliarity with this condition often leads to significant diagnostic delays and misdiagnoses, often resulting in unnecessary diagnostic interventions and futile procedures. Physicians often misdiagnose ACNES as irritable bowel syndrome or "functional disorders", as symptoms of the condition are not dispositive.