DYSAUTONOMIA (Cf also POTS)

An excellent video presentation from the 2015 Dysautonomia International Conference, presented by Dr. Joshua Milner, Chief, Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health: “Dysautonomia International Research Update: POTS, EDS, MCAS Genetics”, Research update on a gene associated with a POTS/ dysautonomia, MCAS, EDS phenotype. https://vimeo.com/142039306

Medical article: “Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities”, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016972/

Normally no one thinks twice about breathing, or how the heart beats or blood flows or a whole host of other ways in which the body works on its own without conscious help.  That is the function of the body’s autonomic nervous system (Greek for self-government).  With dysautonomia, all of these things can go haywire.  POTS is one of the dysautonomias.  Out of all the problems I face with EDS, I think the fatigue, sleep problems and inability to concentrate caused by the dysautonomia and POTS are the worst things I struggle with.

“There are two divisions of the autonomic nervous system: the sympathetic and the parasympathetic. Although the latter occasionally may be involved, abnormal function of the sympathetic division produces the most striking symptoms of dysautonomic syndromes. The term orthostatic hypotension is often used as a synonym for dysautonomia. It is the most dramatic of the symptoms and is the one that most often brings the patient to the physician, but it is not an adequate description of the full dysautonomic syndrome.

Dysautonomia is not a single disease process. The autonomic nervous system may undergo injury as part of several different degenerative neurologic diseases. These are the primary dysautonomias. There are also nonneurologic systemic illnesses of a variety of causes in which injury to the autonomic nervous system may occur and become a predominant component. These are the secondary dysautonomias. Finally, side effects of drugs are often manifested as abnormalities of function of the autonomic nervous system, producing an iatrogenic form of dysautonomia.”

Symptoms of primary dysautonomia Frequency
Postural hypotension 94%
Lightheadedness, fainting, dimness of vision, weakness, unsteady gait, slurred speech, exercise syncope
Urinary dysfunction 65%
Frequency, nocturia, urgency, stress incontinence
Sexual dysfunction 51%
Impotence, loss of libido, dry or retrograde ejaculation
Bowel dysfunction 30%
Intermittent diarrhea, nocturnal diarrhea, rectal incontinence
Decreased sweating 11%

Data derived from: Thomas JE, Schirger A. Idiopathic orthostatic hypotension. Arch Neural 1970

Cover of Clinical Methods

Edited by H Kenneth Walker, MD, W Dallas Hall, MD, and J Willis Hurst, MD. Emory University School of Medicine, Atlanta, Georgia.  Boston: Butterworths;1990.

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

The following is a super introductory article by Professor Grubb

“All beginnings are hard…”    -The Talmud

“All animals must be able to keep their blood pressure and body temperature stable regardless of the position of their bodies or the temperature outside. For animals, this is easier because being on all four legs their brains are closer to their centers of gravity. However, we human beings have a unique challenge, because by walking on two legs our brains are much further away from our centers of gravity, so our systems must work harder than those of other animals. When a normal person stands gravity pulls about 1/3 of the body’s blood to the lower half of the body. The body must quickly sense and compensate for this or the brain would not receive enough blood (and oxygen) and the person would pass out. The brain determines that this downward displacement of blood has occurred by sensing that there is more stretch on blood vessels in the lower part of the body than in the upper part. The brain then tells the body to do three things quickly: make the heart beat faster, increase the force of the heart’s contractions, and tighten up the blood vessels in the lower half of the body to about three times their previous tightness. This process forces blood from the lower half of the body to the upper half so that upon standing the blood pressure does not significantly change. The brain uses a similar mechanism to help regulate temperature. Blood vessels tighten to help the body conserve heat and relax to help the body release heat. The part of the brain that regulates these functions is called the brain stem or medulla. It also regulates a number of other functions in addition to blood pressure and body temperature. These include contractions of the muscles that move food along your intestines, sweating, urination and pupillary function. This system is called the Autonomic Nervous System, the term is derived from the Greek root meaning “self governing.” The autonomic nervous system is involved in the regulation of virtually every organ of the body.

Normally, the system works quite well, by automatically making changes to keep blood pressure, temperature, and bowel and bladder function stable. However, in some people the system does not work properly and many functions that most people take for granted fail to operate as well as they should. When these individuals are in a standing position their blood pressure falls due to failure of the blood vessels in the lower half of the body to tighten.

These people may often faint or have trouble thinking clearly, in addition to suffering feelings of lightheadedness, dizziness, and fatigue. In some of these individuals the heart rate may go excessively high in an attempt to pull the blood pressure up to more normal levels. This process is quite stressful and is quite energy inefficient, thus producing a sense of extreme fatigue, inability to exercise and feeling that the heart is racing. Some people may also experience bowel problems such as constipation, abdominal cramping, gas, periods of diarrhea and nausea. Additionally, individuals suffering from this condition will also have difficulty regulating body temperature and feel excessively cold or hot. A large number of patients also suffer from migraines, as well as forms of attention deficit disorder. Patients often experience severe unremitting fatigue.

Failure of the autonomic nervous system to function appropriately is referred to as a “Dysautonomia.” Other terms are used to describe different forms or subtypes of Dysautonomia. Neurocardiogenic syncope refers to fainting due to a sudden fall in heart rate and blood pressure. The terms Orthostatic intolerance and Postural Orthostatic Tachycardia Syndrome (POTS) both describe a condition where the heart rate is excessively high in an attempt to compensate for a low blood pressure. Symptoms will often begin after a severe stress (such as a viral infection or the flu). There are many different types of dysautonomia (more than can be described here). Tilt table testing is used to measure the body’s responses to upright posture and to help establish a diagnosis by measuring a patient’s heart rate and blood pressure responses to the passive stress of gravity.

Some people with Dysautonomias may be only mildly affected with only occasional symptoms, while other can be severely affected with constant severe symptoms. Those with severe forms of dysautonomia can be virtually bedridden. Many young people who develop these problems will slowly get better over time with the right medications and with physical reconditioning. Maintaining a high salt and fluid intake is also important. In some young people symptoms can be so severe that they can have difficulty completing school work, and they may need extra help just to keep up……..Patients may alternate between good and bad days and on occasion may miss class due to exacerbations of their illness.

What patients need most is understanding and encouragement to deal with this complex and debilitating poorly understood group of disorders. Slowly but surely we are learning how and why these illnesses occur and are developing better and more effective therapies to help patients return to normal productive lives. A cooperative approach that combines the efforts of physicians, the patients, their families and educators is often the most important aspect of successful management of Dysautonomias.”

Blair P. Grubb, MD, Professor of Medicine and Pediatrics, Medical University of Ohio

In Dysautonomia Youth Network of America, Inc. The Young and the Dizzy Newsletter, 2005

Click to access newsletter71.pdf

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: