Table of Contents
dysautonomia syndromes
more information:
- this is NOT familial dysautonomia which is an exceedingly rare condition which only affects those of Ashkenazi Jew parentage.
introduction
- a variably accepted collection of syndromes which mainly occurs in young women
- in the 19th century, it was called neurasthenia and patients were advised bed rest but this just exacerbated the condition by further causing deconditioning and imbalance of the autonomic system, creating a vicious cycle which often resulted in death - presumably due to pulmonary embolism (PE).
- many have the underlying autosomal dominant genetic trait of joint hypermobility syndrome (JHS) which affects up to 30% of both men and women, but perhaps the combination of progesterone dominance in women is what makes the dysautonomias mainly a presentation of young women.
- joint flexibility tends to decrease with age and thus this may explain why these syndromes affect young women and tend to resolve as the get older.
- the syndromes are often precipitated by a viral infection, chemicals or a medication, trauma (particularly head or chest trauma) and even surgery such as breast implant surgery
- patients tend to be progesterone-dominant women who are characterised by tendency to low blood pressures (eg. baseline of 90-110mmHg systolic), gastro-oesophageal reflux, venous dilatation with possible varicose veins, and ligamentous laxity leading to joint pains if the inactivity results in reduced muscle mass to protect the joints, thereby creating another vicious cycle leading to chronicity of symptoms..
- their symptoms maybe exacerbated by progesterone type medications including norethisterone (Primolut-N)
- their may be a connection with endometriosis as a precipitant and perpetuating cause, although this needs research to prove.
- as there is no ready medical solution, patients often waste money and expose themselves to additional risks by seeking alternative medicines, and dietary supplements or vitamin injections - none of which have shown any benefit.
- fortunately, most patients improve over time and many return to normal if they force themselves to adopt a daily regime of moderate aerobic exercise which helps to re-train the autonomic nerves, and avoid substances which cause autonomic dysfunction such as caffeine, alcohol and simple sugars.
- non-steroidal anti-inflammatory drugs (NSAIDs) can help pain components, particularly in fibromyalgia
- various therapies have also been helpful including yoga, stretching exercises, tai-chi, and massage therapy.
- depending on the predominate features and who the patient is referred to, they may be labeled as having one of the following syndromes included in this category:
- chronic fatigue syndrome
- irritable bowel syndrome
- inappropriate sinus tachycardia (ITS)
- mitral valve prolapse syndrome (MVPS)
- vagus nerve dysfunction (VND) - which may be the mechanism of many long Covid syndrome symptoms
associated syndromes
hypermobility syndromes
chronic fatigue syndrome (CFS)
- easy fatiguability, lethargy
irritable bowel syndrome (IBS)
- variable bowel disturbances including episodic diarrhoea, constipation, cramping pains
- NB. chronic constipation is a feature of JHS while variable bowel symptoms can be caused by endometriosis
fibromyalgia
- see fibromyalgia
inappropriate sinus tachycardia (ITS)
- also known as chronic nonparoxysmal sinus tachycardia
- resting sinus tachycardia - HR > 100 when awake, and dropping to 80-90 when asleep (still much higher than normal people)
- even minimal exertion can increase heart rates to 130-140/min and sometimes even up to 170/min, and is often associated with chest pains and SOB
- often referred to a cardiologist who treat the symptoms with beta adrenergic blockers or ablation of the sinus node instead of addressing the underlying dysautonomia by use of graded daily moderate aerobic exercise.
- despite the anxiety-provoking nature of the symptoms it does NOT cause death unless the patient remains bed bound and exposed to the risks of pulmonary embolism (PE)
- recognised as a syndrome in 1979 but only accepted as a true medical entity around 2000, although few doctors have heard of it.
- see also:
postural orthostatic tachycardia syndrome (POTS)
- subacute condition of adolescents & young adults, mainly females (4:1), 50% have infectious prodrome;
- the hallmark symptom of POTS is an increase in heart rate from the supine to upright position of more than 30 beats per minute or to a heart rate greater than 120 beats per minute within 12 minutes of head-up tilt.
- partial sympathetic denervation, esp. legs ⇒ decreased sweating, venous pooling on standing;
- 80% improve; 60% return to normal;
- some may be due to pectus excavatum
- see also:
mitral valve prolapse syndrome (MVPS)
- 5% of the population & 17% of young women have mitral valve prolapse which is largely an autosomal dominant condition, some 40% of these also have MVPS which is a controversial, poorly diagnosed & characterised syndrome whose symptoms relate not to MVP itself but to underlying low circulating blood volume, low resting BP, autonomic dysfunction, high levels of circulating NA, adrenergic hyper-responsiveness, abnormal renin-aldosterone response to volume depletion which results in a multitude of symptoms including:
- orthostatic intolerance
- sensitivity to dehydration & thus at higher risk of exercise-induced syncope
- palpitations, tremulousness, poor concentration, depression (70%), visual disturbances,
- fatigue, exercise intolerance, anxiety & panic attacks, irritable bowel symptoms
- vascular symptoms such as flushing & cold extremities
- it is postulated that the low blood volume results in low cardiac volume & mismatch of mitral valve size, resulting in mitral valve floppiness rather than true mitral valve prolapse, however, a causal link b/n dysautonomia & MVP is not yet proven nor accepted by all authorities.
- symptoms often improve during pregnancy owing to increase circulating blood volume
- symptoms exacerbated by sympathetic stimulants, alcohol, dehydration, sleep deprivation, sedentary lifestyle
- Rx of MVPS:
- adequate water intake, esp. during exercise;
- moderate, regular exercise; adequate sleep;
- avoid caffeine, sugar, alcohol
- consider salt tablets, fludrocortisone 0.05-0.10mg/d po, ? Mg supplements ?? beta-blockers
non-erosive gastro-oesophageal reflux (NERD)
- a large proportion of patients with gastro-oesophageal reflux symptoms have normal gastroscopies and often normal oesophageal pH measurements, and this group are regarded as having “functional” GOR which may be more related to joint hypermobility disorders and syndromes or changes in cortical perception of oesophageal sensations, and is mainly young women without hiatus hernia and who usually do not respond to proton pump inhibitors (PPIs).
- The entity of noncardiac chest pain (NCCP) was first described during the American Civil War when a Philadelphia physician, Jacob Mendez Da Costa, first encountered soldiers who complained of chest pain, shortness of breath, and palpitations. Given the patients' young age, cardiac disease was not thought to be the underlying etiology of symptoms and the syndrome was described as the “irritable heart”.
- In 1892, Sir William Osler14 coined the term “oesophagismus” in reference to esophageal spasm that was associated with emotional disturbances and substernal chest pain.
- unlike erosive GOR, the overall prevalence of NCCP appears to decrease with advancing age
vagus nerve dysfunction (VND)
- this could be the mechanism of long Covid syndrome symptoms
- many have impaired diaphragmatic breathing, GOR, thickened vagus nerves suggesting inflammation, sinus tachycardia, orthostatic hypotension and diarrhoea.
- may have role of changed cholecystokinin (CCK), ghrelin secretion
- reduced vagal nerve activity may have a role in increasing depression
- through direct or indirect anatomic connections via the nucleus tractus solitarii (NTS), the vagus nerve has structural connections with several mood regulating limbic and cortical brain areas
- vagal nerve stimulation (VNS) has been used to treat epilepsy and is known to result in chemical changes in monoamine metabolism in the ventromedial prefrontal cortex (vmPFC), which projects to the amygdala and other brain regions modulating emotions possibly resulting in its antidepressant action.
- the vagus nerve has a key role in the brain–gut axis and inflammatory responses
joint hypermobility syndrome (JHS)
- probably a autosomal dominant trait1) which affects up to 10-30% of males and females
- main features and associations include:
- joint hyperflexibility
- joint proprioceptive impairment
- resistance to the local anaesthetic effects of lignocaine
- chronic pain
- autonomic dysfunction2)
- lower systemic blood pressure
- psychological distress
- mitral valve prolapse
- venous pooling and varicose veins
- Raynaud's phenomenon
- easy bruising of the skin
- hernias
- asthma
- osteopenia
- premature rupture of membranes, premature labour or precipitate labour
- poor post-operative healing with increased infection rates
- uterine or rectal prolapse
- increased incidence of clicky hips and CDH in infants
- may cause “clumsiness”, increased incidence of joint sprains or dislocations and difficulty with handwriting tasks in children
- chronic constipation 3)
- tendency for worsening symptoms in adolescence and just before menses - perhaps a progesterone effect
- in a Israel study, 78% of patients with JHS had orthostatic symptoms or POTS compared with 10% of controls4)
- this can be an issue with dancers - see here
the endometriosis connection
- see also endometriosis
- a survey study in 2002 by researchers at the National Institute of Child Health and Human Development (NICHD), the George Washington University, and the Endometriosis Association, in which 3,680 women stated they had been surgically diagnosed with endometriosis, showed that when compared with normal women, in women with endometriosis:
- CFS is 100x more likely
- fibromyalgia is twice as likely
- of the more than 20 percent who had more than one other disease, 31 percent of those had either fibromyalgia or CFS
- hypothyroidism was 7x more common
- allergies or asthma were 2-3x more common