Testing By Medical Professionals

 Blood testing

  • ANA Antinuclear antibody test – A positive result may indicate you have Antinuclear antibodies that attack your healthy tissues, a broad test that can indicate an autoimmune disease (1) 
  • Albumin – Albumin is protein made by the kidneys. Too much may indicate dehydration or too little in the bloodstream can indicate a problem with the kidneys.  It also can be low if there is an infection or inflammation. (32)
  • Blood Volume – A tracer is injected into the bloodstream. After it mixes with the blood it is withdrawn and then a formula is used to determine if you have low blood volume that could cause low blood pressure or high blood volume that could increase blood pressure. The body may not be able to keep a proper balance of the blood pressure throughout the body if the volume is off. (33)
  • B6/Pyridoxine – B6 can cause neuropathies if its level is to high and creates a toxicity (3) 
  • B12/Cobalamin – B12 helps keep the nervous system healthy, the nervous system may develop neuropathy without the proper amount, also check MMA/Methylmalonic Acid and homocysteine to make sure the b12 is being absorbed properly. (2)
  • CBC/Complete Blood Count (with and without differential) – Used to find numerous types of diseases.  Both red and white blood cells are counted and researched.  “With differential”, means the white cells are counted and divided into their 5 different types to see if one particular type is having problems.  “Without differential”, means all the white cells are totaled together.  
  • Coeliac screen – Test for Celiac disease.  People with celiac disease are at a high risk for POTS and other dysautonomias. (4)
  • C-Reactive Protein – A positive test indicates the body may have inflammation due to a disease in the body. (36)
  • Vitamin D – Vitamin D deficiency can be directly related to dysautonomia (5)
  • ESR/Erythrocyte Sedimentation Rate/ SED Rate – A test that measures inflammation in the body somewhere in the body. The body causes inflammation to trap what it perceives as a threat so it can be attacked by the body’s defense system.  The test times how fast red blood cells sink.  Inflammation will cause red blood cells to clump together and sink faster so the faster they sink the more likely or severe the inflammation may be.  (6)
  • Ferritin – Ferritin protein stores iron.  Low Ferritin has been found to be related to dysautonomia (7)
  • Glucose/A1C/HbA1C/Blood Sugar – Glucose levels have been related to diabetes and the destruction of blood vessels cutting off blood supply to nerves. (8)

     
Catecholamine (adrenaline) –  A urine or blood test  may be used to check to see if there is an excessive amount of adrenaline being released.  This is common in HyperPOTS and when the adrenal glands are over-stimulated by the sympathetic nervous system to release too much adrenaline. (28) Kidney TestsKidney function is a key organ used in regulating blood pressure. 
  • Blood urea nitrogen (BUN) – Measures the amount of nitrogen in blood, a high level may indicate the kidneys aren’t filtering correctly and malfunctioning (10)
  • eGFR (estimated glomerular filtration rate) – Test for the kidney filtration to see if they are functioning properly (8)
blood-pressure-monitor-1749577_1280-testing Thyroid tests – Thyroid malfunction is commonly related to dysautonomia. TSH/thyroid stimulating hormone (T3, T4) – High levels indicate more stimulus is needed due to hypothyroidism. A low level indicates hyperthyroidism and the thyroid is overactive.  (11)

Cranial doppler – Imaging that shows blood flow in the brain. POTS and other dysautonomias have shown decreased blood flow in the brain during tilt table testing.

(12)
ECG/EKG, Electrocardiogram/Elektrokardiogramm – Detects the electrical current of the heart.  Can show bradycardia, tachycardia, cardiac syncope, and HRV irregularities. It has a low sweep speed that shows more waveforms than an Electrophysiology Test(13)

Echocardiogram – Shows the heart’s structure, how it is moving, and how blood is flowing through it. A normal structure with irregular beat may indicate an autonomic nerve issue that controls it. (14)

EEG Electroencephalogram – Used to record the brain’s natural energy.  Scalp electrodes are placed on the head and to record the energy pattern that gets printed out in a line graph. Different areas of the brain showing low energy patterns could help determine the source of the dysautonomia.   (15) (16)

Electrophysiology Test – Similar to an Electrocardiogram, it detects the electrical current of the heart.  It has a faster sweep speed of the scan allowing for more accuracy and detail of a waveform. (17)

EMG Electromyography – Needles are placed about slightly in the skin to measure the electrical current of the muscles.  It is used frequently with a Nerve Conduction Test.  It may miss problems with the smallest nerve fibers. (18)

ENA Extractable nuclear antigen – tests for Antinuclear antibodies that may indicate an autoimmune disease.  If you have a positive ANA test the ENA could provide more information on what is causing the Antinuclear antibodies to appear.  (34)

GET Gastric Emptying Test/ Study – A test that times how long it takes for the stomach to empty.  Scans are taken or a Smart pill is used to track the progress of food through the body.  If food sits in the stomach too long it may be due to gastroparesis.  If the stomach empties too quickly, it may be due to dumping syndrome.  (19)

Genetic testing/Whole genome sequencing – As technology advances more links are found between genomes and dysautonomia.   Mutations in the ELP1 gene, for example, is a known to be a cause of Familial Dysautonomia. (20) (21)

Hemodynamic test – A tracer is injected into the bloodstream and then imaging shows how the blood is flowing through the heart. Often used with Tilt Table testing to what happens when syncope or presyncope happens with the circulation in the heart.  (22)

HRV Heart rate variability –  Simple testing that measures the time between beats. ECG can show this in the graph but there are also heart rate monitors that can be worn with a simple strap that keeps the device over the heart. (23)

MRI Magnetic Resonance Imaging – MRI’s use a magnetic field to make images instead of the radiation many other imaging techniques use. It is best used to find abnormalities in soft tissue such as the brain and spinal cord.  “MRI with Contrast” means a dye will be injected into the body to help enhance the image. (24)

NCV/NCS, Nerve conduction velocity/nerve conduction study – It detects how fast a nerve impulse is moving.  It goes hand and hand with an EMG to see if the problem is with the nerve path and nervous system or in the muscle. (25)

Quantitative direct and indirect test of sudomotor function (QDIRT) – A test that takes advantage of new technology that can be related to QSART test. It is also used to measure sweating. It uses silicone impressions and photographs to record the sweating from direct and indirect stimulus. More research is currently needed partially due to the sensitivity to the environment (temperature and humidity) distorting the test. Currently it is looked as a cheaper and therefore more accessible alternative to QSART.  (38)

Quantitative pilomotor axon reflex test (QPART) – A test that measures the body’s smaller nerve fibers.  A stimulus is used to see if the body’s hairs will stand up as a response to the sympathetic nervous system.  A delayed or absent response can indicate a dysautonomia.  (37)

QSART Quantitative sudomotor axon reflex test – A test that measures how well your body sweats. The autonomic system is responsible for sweating so if the sweat glands are determined to be healthy and the body doesn’t sweat properly it could be due to autonomic dysfunction.  (26)

QST Quantitative Sensory Testing – A stimulus for cold, heat, vibration, and pin prick are used to determine if the response is normal.  Some equipment may be used such as a thermal analyser, tuning fork, and needle. It can have inconsistent results due to the different mindset of individuals and how they rate or perceive the stimulus.  (27)

Stress test – Shows how the heart is functioning when the body is both active and inactive.  A regular stress test uses an EKG but a nuclear stress test has the addition of imaging the blood flow through the heart. (29)

TST Thermoregulatory sweat test – A powder is sprinkled over the entire body then the person is placed in a small heated chamber.  The powder shows what areas sweat the most and least. Sweating is an autonomous response and problems with it can indicate dysautonomia. (31)

TTT Tilt Table Test – A person is strapped to a table that tilts from standing to lying position at different intervals.  It measures how well the body adjusts to the different positions. A standard ECG test as well as blood pressure cuff are used during the test to monitor the heart beat and blood pressure.  Another thing that can be seen is if there is blood pooling.  The test may cause the feeling of syncope or presyncope due to the blood not being able to circulate against gravity and properly reach the brain. (30)

Urinalysis – Urine is checked for a variety of things such as proteins, blood, ketones, sodium and other substances that are eliminated from the body.  They can be fasting and non fasting. (35)  

QDIRT Quantitative direct and indirect test of sudomotor function – A test that takes advantage of new technology that can be related to QSART test. It is also used to measure sweating. It uses silicone impressions and photographs to record the sweating from direct and indirect stimulus. More research is currently needed partially due to the sensitivity to the environment (temperature and humidity) distorting the test. Currently it is looked as a cheaper and therefore more accessible alternative to QSART.  (38)

QPART Quantitative pilomotor axon reflex test – A test that measures the body’s smaller nerve fibers.  A stimulus is used to see if the body’s hairs will stand up as a response to the sympathetic nervous system.  A delayed or absent response can indicate a dysautonomia.  (37)
Treatment-testing by medical professionals

RESOURCES

  1. Nosal RS, Superville SS, Amraei R, et al. Biochemistry, Antinuclear Antibodies (ANA) [Updated 2022 Dec 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537071/
    1. Vashi P, Edwin P, Popiel B, Lammersfeld C, Gupta D. Methylmalonic Acid and Homocysteine as Indicators of Vitamin B-12 Deficiency in Cancer. PLoS One. 2016 Jan 25;11(1):e0147843. doi: 10.1371/journal.pone.0147843. PMID: 26807790; PMCID: PMC4725715.
    2. Bacharach R, Lowden M, Ahmed A. Pyridoxine Toxicity Small Fiber Neuropathy With Dysautonomia: A Case Report. J Clin Neuromuscul Dis. 2017 Sep;19(1):43-46. doi: 10.1097/CND.0000000000000172. PMID: 28827489.
    3. Antinuclear antibody (ANA) test. Testing.com. (2022, November 15). https://theceliacmd.com/pots-postural-orthostatic-tachycardia-syndrome-celiac-disease-and-gluten-an-undiscovered-connection/#:~:text=POTS%20(Postural%20Orthostatic%20Tachycardia)%20is,higher%20risk%20of%20POTS%2Fdysautonomia. 
    4. https://pediatricneurosciences.com/article.asp?issn=1817-1745;year=2017;volume=12;issue=2;spage=119;epage=123;aulast=Wadhwania;type=3 
  • Postural Tachycardia Syndrome Associated with Ferritin Deficiency (P1.034), Daniel Wallman, Anna Hohler, Janice Weinberg, Zetta Fayos, Neurology Apr 2014, 82 (10 Supplement) P1.034
  • Jose, Antony; Maroli, Roshan; George, Peter1. Autonomic Functions in Hypothyroidism. Journal of Indian College of Cardiology 13(1):p 23-28, Jan–Mar 2023. | DOI: 10.4103/jicc.jicc_15_22 
  • The EEG in familial dysautonomia (Riley-Day syndrome). Science Direct. (n.d.). https://www.sciencedirect.com/science/article/abs/pii/0013469467901769?via%3Dihub 
  • Weaver KR, Griffioen MA, Klinedinst NJ, Galik E, Duarte AC, Colloca L, Resnick B, Dorsey SG and Renn CL (2022) Quantitative Sensory Testing Across Chronic Pain Conditions and Use in Special Populations. Front. Pain Res. 2:779068. doi: 10.3389/fpain.2021.779068
  • Madsen T, Christensen JH, Toft E, Schmidt EB. C-reactive protein is associated with heart rate variability. Ann Noninvasive Electrocardiol. 2007 Jul;12(3):216-22. doi: 10.1111/j.1542-474X.2007.00164.x. PMID: 17617066; PMCID: PMC6931946.
  • Siepmann T, Gibbons CH, Illigens BM, Lafo JA, Brown CM, Freeman R. Quantitative pilomotor axon reflex test: a novel test of pilomotor function. Arch Neurol. 2012 Nov;69(11):1488-92. doi: 10.1001/archneurol.2012.1092. PMID: 22868966; PMCID: PMC3563419.
  • Gibbons CH, Illigens BM, Centi J, Freeman R. QDIRT: quantitative direct and indirect test of sudomotor function. Neurology. 2008 Jun 10;70(24):2299-304. doi: 10.1212/01.wnl.0000314646.49565.c0. PMID: 18541883; PMCID: PMC3046813.