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Orthostatic Intolerance due to NET Deficiency

Familial Orthostatic Tachycardia due to Norepinephrine Transporter Deficiency


  • Abstract Objective To describe the postural orthostatic tachycardia syndrome (POTS), including clinical presentation, pathophysiology, diagnostic methods, and current management models.[doi.org]
  • Prognosis and Impact of POTS At present, only limited data are available on the prognosis of patients with POTS.[web.archive.org]
  • For people with postural tachycardia syndrome (PoTS) it can present a daily challenge.[doi.org]
  • The prevalence in the UK is unknown 4 but probably under-estimated due to overlap with other pathologies such as chronic fatigue, post-viral syndromes, and limited availability of knowledgeable healthcare personnel. 7 NON-SPECIFIC SYMPTOMS A plethora[doi.org]
Recent Viral Illness
  • Heart rate increases to compensate for this blood pooling.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.[en.wikipedia.org]
  • Examination of the extremities during this period may reveal a mottled bluish discoloration (acral cyanosis) that suggests peripheral vascular pooling.[web.archive.org]
Leg Pain
  • Pramipexole (Sifrol) (2016) Usage: 0.26 mg depot tablet at bedtime Supposed to help: sleep, restless legs, pain, fatigue, libido, cognition Science: Pramipexole is a dopamine agonist used in the treatment of Parkinson's disease and sometimes restless[fiikus.net]
  • Pappas, Autonomic related vertigo, The Laryngoscope, 113, 10, (1658-1671), (2010). Gonzalo Barón-Esquivias, Aurelio Cayuela, Alonso Pedrote, Soledad Cabezón, Juan E.[dx.doi.org]
  • Acute/chronic otitis media Acoustic neuroma Barotrauma Cholesteatoma Dysfunction of eustachian tube Foreign body Hearing impairment Hematoma of external ear Labyrinthitis Mastoiditis Meniere disease Otitis externa Tinnitus Tympanic membrane perforation Vertigo[nccpa.net]
  • People often refer to dizziness as vertigo, unsteadiness, or lightheadedness.[medicinenet.com]
  • Low blood pressure of any cause may promote the following: [4] lightheadedness , sometimes called pre-syncope (pre-fainting) dizziness (but not vertigo , which is also called dizziness) [5] exercise intolerance extreme fatigue syncope (fainting) Excessive[dysautonomiaconnection.org]
  • Low blood pressure of any kind may promote the following: [3] lightheadedness, sometimes called pre-syncope (pre-fainting) dizziness (but not vertigo, which is also called dizziness) [4] exercise intolerance extreme fatigue syncope (fainting) Excessive[psychology.wikia.com]


  • A couple of years prior to the above, I had a cardiac workup after having premature ventricular contractions (PVCs). One thing they noticed right away is my blood levels of magnesium were low.[forum.marksdailyapple.com]


  • , but many suggested treatments have a poor evidence base.[web.archive.org]
  • New: An examination of the experimental and clinical trials conducted in the treatment and diagnosis of MSA.[dinet.org]
  • Muhammad Khan, Jing Ouyang, Karen Perkins, John Somauroo and Franklin Joseph, Treatment of Refractory Postural Tachycardia Syndrome with Subcutaneous Octreotide Delivered Using an Insulin Pump, Case Reports in Medicine, 2015, (1), (2015).[doi.org]


  • Prognosis and Impact of POTS At present, only limited data are available on the prognosis of patients with POTS.[web.archive.org]
  • If POTS is caused by another condition, outcomes depend on the prognosis of the underlying disorder. The prevalence of POTS is unknown.[en.wikipedia.org]
  • These patients generally have a poorer prognosis.[dysautonomiaconnection.org]


  • "It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies.[dinet.org]
  • The underlying pathophysiology is thought to involve activation of the sympathetic nervous system, but the actual etiology is poorly understood.[nature.com]
  • In approximately one third of cases, no specific cause can be identified (idiopathic) and may be autoimmune in etiology. The hypothalamus is a portion of the brain that acts as a link between the brain and the endocrine systems.[rarediseases.org]
  • However, they can also be used in other medical conditions such as diabetes, CHF, MI, severe burns, and overhydration. [14] - BUN decreases with overhydration [10] - Normal adult value: 10-20 mg/dl [10] Etiology/Causes Due to the etiologic complex, symptoms[physio-pedia.com]
  • Etiology About 70% of cases in the US are due to idiopathic atrophy of the adrenal cortex, probably caused by autoimmune processes.[merckmanuals.com]


  • Jacob G and Robertson D (1995) Orthostatic hypotension: epidemiology, pathophysiology and management . Curr Opin Nephrol Hypertens 4 : 452–454 5. Robertson D and Davis TL (1995) Recent advances in the treatment of orthostatic hypotension .[nature.com]
  • International journal of epidemiology, 38(4), 963-970. Van Drongelen, A., Boot, C. R., Merkus, S. L., Smid, T., & Van Der Beek, A. J. (2011). The effects of shift work on body weight change—a systematic review of longitudinal studies.[edinstitute.org]
  • 6 Differences in muscle sympathetic nerve discharge characteristics, in the setting of sympathetic fibre loss associated with POTS, may contribute to the predisposition to and greater prevalence of POTS in female individuals. 7 There are no accurate epidemiological[web.archive.org]
  • Additional controls included 245 neurologically asymptomatic patients with lung cancer prior to oncological treatment (identified from the Mayo Clinic Epidemiology and Genetics of Lung Cancer Research registry enrolled from 1999 to 2005; 35 had small[doi.org]
  • Using an epidemiological study to quantify activity levels across the CFS population would be most illuminating.[phoenixrising.me]
Sex distribution
Age distribution


  • Nonpharmacologic and pharmacologic treatment methods are available to improve the underlying pathophysiology of the disorder. Laryngoscope, 127:1195–1198, 2017[doi.org]
  • It can be divided into a number of overlapping pathophysiological models as follows. Neuropathic This is thought to be associated with partial dysautonomia.[web.archive.org]
  • Some pathophysiological mechanisms of POTS and related treatments. Figure 1. Pathophysiological mechanisms of postural tachycardia syndrome.[doi.org]
  • Much research is necessary to understand the pathophysiology and best management of this recently recognised disorder. Education is needed to increase awareness among healthcare professionals and improve referral pathways.[doi.org]
  • Pathophysiology of POTS POTS is a “final common pathway” for a number of overlapping pathophysiologies [ 2 ].[doi.org]


  • CDC, US Centers for Disease Control and Prevention CFS, chronic fatigue syndrome ME, myalgic encephalomyelitis NMH, neurally mediated hypotension NRI, norepinephrine reuptake inhibitor POTS, postural orthostatic tachycardia syndrome SSRI, selective serotonin[doi.org]
  • These include taking your headache medication when you know a storm is coming to prevent symptoms and exercising which increases endorphins which can lessen the affects of headaches.[web.archive.org]
  • Hyperadrenergic POTS treatment is targeted towards preventing release of these transmitters or prevention of their action.[myheart.net]
  • The drug pyridostigmine is often quite helpful in preventing supine OH without worsening SH. In some SH/OH patients the swings in blood pressure are so extreme that midodrine or droxidopa is administered when upright to prevent OH.[innovationsincrm.com]

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