Dysautonomia/POTS

by Dr. Margaret Aranda

To understand either dysautonomia or POTS (postural orthostatic tachycardia syndrome), one needs to know that these are disorders of the Autonomic Nervous System (ANS). The ANS automatically performs many functions that you don't have to think about. This includes things like:

*     The digestion of your food

*     Your blood pressure

*     Your heart rate

*     Keeping blood going to your brain whenever you stand up

*     Telling you when your urinary bladder is full, and when you need to urinate

*     Holding in your stool until you can find a restroom

*     The erection of your penis

With the many different types of dysautonomias, of which orthostatic hypotension and POTS are just two types, the primary complaint is "almost passing out" (i.e., pre-syncope)  or "passing out" (syncope). One feels a typical 'headrush' but it can be quite profound, as if someone is pulling one's hair down to the ground. It is typical for a patient to undergo a 'gray-out', and retreat to a bed immediately. Many of the patients are young females who would much rather trade in their disease for a pair of high heels and go dancing. Yet it is a diagnosis that is frustrating to the doctors, who are usually quite stumped, and who are unable to come up with an ICD Code and a diagnosis. Some simply tell the woman, "There's nothing wrong with you." Some blame it on hormones, on stress, or on 'PTSD'. Some call us a 'malingerer' to our faces, because we Look Good. 

(Shhhh! We look good while we are laying in bed! It's that little thing called Gravity that bothers us. We stand up ~ we faint.) The definitive diagnosis is the gold standard Tilt Table Test (TTT), where one gets velcroed to a Herman the Munster table, then gradually tilted upwards until one passes out. I passed out for 22 sec. So, I was one of the lucky ones that got a diagnosis. And it only took 6 months, 30 doctors, and 20 hospitalizations. The doctors wanted to send me to a nursing home, and I think they thought I would just die. I said the magic words, "You don't even have a diagnosis." And that saved me. If I wasn't a doctor, I would not have known the 'magic words' to say.

The treatment plan includes noninvasive devices such as Jobst stockings (20-30 mmHg pressure), Spanx(R) from abdomen to lower thigh, midodrine alpha-1 agonist to push the blood pressure up, fluorinef mineralosteroid to help retain salt, which helps retain water, and a high salt  diet. I lived on an iv for 3 1/2 years to get fluid 60 ml/hr, and I weaned myself off (with my doctor's permission) by going down 1 cc every 2 days and increasing my oral intake). I still go to the ER sometimes for 1 liter of Normal Saline iv fluid. My Caregivers say it turns me into a "completely different person." I'm not sure if that's an insult or a compliment ;-), but I do feel lots better with iv fluid. 

I can sit up for about 2 hours at a time, I can walk one flight of stairs at home where I can hold on to both sides, and we have wheelchair ramps at every door entrance to the house. I can walk a short distance, usually holding on to someone, because of the brain injury and my imbalance when I walk. I'm glad I met so many wonderful people after having this horrible disease, and now I hope to do all that I can to meet the challenge that lies before us: to make things better for the next generation.

And sure, it's Women Helping Women. There is a gap in Health Care for us. We need to catch up. That's what the Medi-Basket(TM) is for: Keeping you In the Community and Out of the ER or the Hospital. Because virtually all of us learn to hate the ER. We know. We've been there.

Medical Disclaimer: Not meant as medical advice, treatment, or cure for any one individual patient. Before making any changes to your nutrition, supplement, or medication, check with your doctor first. Your doctor may want to evaluate you in person, so that (s)he can track your changes as you move on to a healthier lifestyle.

REFERENCES:

1.    http://www.ncbi.nlm.nih.gov/books/NBK400/

2.    http://en.wikipedia.org/wiki/Dysautonomia

3.   http://heartdisease.about.com/cs/womensissues/a/dysautonomia.htm

4.   http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1501099/

5.   http://www.ncbi.nlm.nih.gov/pubmed/23122672

6.   http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669599/

7.  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361090/

8.  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295536/

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Disorders of the Autonomic Nervous System

By definition, the diagnosis of dysautonomia indicates that a patient has clinically significant orthostatic hypotension. Many patients experience syncope or near-syncope, "gray-outs" that place them at risk of falls due to impairment of the autonomic nervous system (ANS).

Many patients with dysautonomia, or postural orthostatic tachycardia syndrome (POTS) are bed-bound because of an inability to stand up and/or walk due to cardiac instability, "head rush" severity, and a host of other symptoms that may include chronic dehydration, salt wasting, chronic urinary tract infections, brain fog, sweats, deconditioning, muscle atrophy, traumatic brain injury (TBI), and/or imbalance. Some patients are able to get out of bed for doctor visits, but may find themselves at the end of a one-way trip to the store or social event, only to leave the facility by EMT assistance (1).

Confounding variables may affect a person with dysautonomia such that there is a need for a wheelchair. This includes the following subtype diagnoses of dysautonomia or POTS: Ehlers-Danlos Syndrome (EDS), pure autonomic failure (PAF), hyperadrenergic POTS, Multiple System Atrophy (MSA or Shy-Drager Syndrome), familial dysautonomia, Parkinson's Syndrome, Mastocytosis, and Neurally-Mediated Syncope (NMS).

Inherited autonomic neuropathies include the following: Fabry Disease, Familial Amyloid Polyneuropathy, the porphyrias, and the Hereditary Sensory and Autonomic Neuropathies (HSAN) (2). The HSANs include specific genetic disorders that all carry denervation sensory components, in addition to autonomic dysfunction. There are five major classifications of these genetic disorders (3); each one is described herein as to genetic mutation (i.e., genotype), onset, clinical syndrome (i.e., phenotype), and nerve fiber pathology, if applicable.

Type I HSAN:
Genotype: Autosomal Dominant; SPTLC1 Gene. Point mutations in serine palmitoyltransferase (SPT), chromosome 9q22.1-q22.3 (4) SPT is the enzyme necessary for sphingolipid synthesis of sphingomyelin and ceramide. Ceramide programs neuronal cell death.
Onset: Juvenile or Adult.
Phenotype: Charcot-Marie Tooth Type 2B Syndrome; Thevenard Syndrome; Familial Syringomyelia; Mal Perforant du Pied; Hereditary Sensory Radicular Neuropathy; Familial Trophoneurosis; Ulcero-mutilating Neuropathy.
Characteristics: Severe loss of sensation in the lower limbs, resulting in injury. Ulcers of the feet, especially the soles.
Nerve fibers: Sensory action potential is low.

Type II HSAN: 
Genotype: Autosomal Recessive; HSNII Gene.
Onset: Before the age of 20 years.
Phenotype: Morvan's Disease; Congenital Sensory Neuropathy.
Characteristics:  More clinically severe than Type I.  Early ulcers. Loss of sensation in upper and lower limbs, trunk, forehead.
Nerve fibers: Nerves show a marked loss in both myelinated and unmyelinated nerves.

Type III HSAN:
Genotype: Autosomal Recessive; IKBKAP Gene. The defect is in the B cell inhibitor of k-light polypeptide gene enhancer, kinase complex-associated protein at chromosome 9q31.
Onset: At birth (5) or early childhood (2).
Phenotype: Familial dysautonomia,  Riley-Day Syndrome.
Characteristics: Found in Ashkenazi Jews.
Nerve fibers: myelinated nerve fibers are normal and there is an absence of unmyelinated fibers (6).


Type IV HSAN:
Genotype: Autosomal Recessive; NTRK1 Gene. The defect is in tyrosine kinase receptor A, or nerve growth factor receptor at chromosome 1q21-q22. In 2004, two missense mutations in  tyrosine kinase were described in a pediatric patient (7).
Onset: At infancy.
Phenotype: Anhidrosis, congenital insensitivity to pain.
Nerve fibers: Loss of myelinated and small, unmyelinated nerve fibers.

Type V HSAN:
Genotype: Autosomal Recessive; NGFB/NTRK1 Gene. A mutation in the nerve growth factor Beta gene (NGFB) has been implicated as causing loss of pain perception.
Onset: Early.
Phenotype: Anhidrosis, congenital insensitivity to pain in the extremeties; no mental retardation.
Nerve fibers: Not applicable. It is a Growth Factor mutation.

Autonomic nervous system pathologies may present with nomenclature confusion given that the presenting symptoms may evolve into a more discrete syndrome. The POTS diagnosis should be reserved to those manifesting primarily the sympathetic vs. the parasympathetic nerve dysfunctions. For patients presenting with orthostatic hypotension (e.g., sympathetic dysfunction) and gastroparesis (e.g., parasympathetic dysfunction), the more broad classification of 'dysautonomia' may be used. Given that our understanding of the pathology of the disease is improving, it is likely that the terminology will continue to evolve.


References:
(1) http://forums.dinet.org/index.php?/topic/15235-wheelchairs/page__st__15
(2) http://emedicine.medscape.com/article/1173756-overview#aw2aab6b2b3
(3) http://dysautonomia.nyumc.org/autonomic-disorders/hsan
(4) Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy,
      type 1. Nat Genet. Mar 2001;27(3):261-2. [Medline].
(5) http://dysautonomia.nyumc.org/autonomic-disorders/hsan
(6) Low PA, Vernino S, Suarez G. Autonomic dysfunction in peripheral nerve disease.
               Muscle Nerve. Jun 2003;27(6):646-61. [Medline].
(7) Ohto T, Iwasaki N, Fujiwara J, et al. The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene. Neuropediatrics. Oct 2004;35(5):274-8. [Medline].



















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