Chiari Malformation

Chiari Malformation can be a co-morbid disorder with POTS.  One does not cause the other, but they tend to accompany one another in patients.
Here are some quick facts about Chiari Malformations:

• Chiari Malformations (CM) are structural differences in the cerebellum.  When part of the cerebellum is located below the foramen magnum it is known as a CM.

• There are four types of CM, but the type that occurs most often with POTS is Type 1.  Type 1 is an extension of the cerebellar tonsils into the foramen magnum without involving the brainstem.  Some people never show symptoms, but is the most common type of CM.  It is the only type that can be acquired.

• The primary symptoms of type 1 are: head and neck pain due to increased cerebrospinal fluid that builds up around the brain stem and puts pressure on the tissues and nerves; dizziness; and balance problems.

• It is diagnosed with the use of an X-ray, a CT scan, or and MRI.

• Treatment is normally not necessary since it doesn't interfere with most people's daily lives

http://www.conquerchiari.org/index.htm

For more information, visit:

http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm

When it rains, it pours

I can't remember a time when I didn't hate the rain.  While other people liked to go and play in puddles, all I could do was sit around inside and wait for it to be over.  None of my friends have ever understood why I despise the rain so much, and it wasn't until recently that even I put all of the pieces together.

On rainy or overcast days, my POTS kicks in more than it does on a normal day.  I believe that it's due to the change in the barometric pressure.  I can tell what the weather is before I get out of bed or check the weather report.  All I want to do the entire day is sleep.  The best way to describe the feeling is that my limbs are filled with quick sand.  This quick sand feeling occurs on almost a daily basis, but it can be controlled by my sodium intake and my medicines.  On rainy days, nothing seems to help other than napping.

When I was putting on my socks this morning I came across another discovery.  So much blood and water had pooled in my legs during the night, that when I touched them, pitting occurred.  This is typically called Peripheral Edema.  After I had gotten up and moved around, the edema went away, but the heavy feeling in my arms and legs remained until the clouds cleared.

Diagnosis

POTS is easily misdiagnosed.  The symptoms of postural orthostatic tachycardia often mimic other illnesses.  There are a variety of tests that the POTS patient may undergo:

The tilt table test is the usual method used for detecting POTS. A patient is strapped to a table, which will tilt them upright at an angle of at least 60 degrees. Measurements of heart rate and blood pressure are taken while lying flat and then again at intervals while tilted upright. The normal duration of the test is 40 minutes or until they faint. Some patients are given a drug called isoproterenol through an intravenous line during this test. Other drugs that are sometimes used in place of isoproterenol include nitroglycerin, edrophonium, adenosine triphosphate, ephedrine and nitroprusside.  These drugs are used to exacerbate POTS patients' symptoms and provoke syncope.


Magnetic resonance imaging (MRI) can also be used to diagnose some conditions like tumors, chiari malformation, cervical stenosis or the nutcracker phenomenon. The magnetic field and different radio frequencies allow detailed images to be generated.


A 24-hour urinary sodium test is handy in determining if one's plasma volume. It is important to determine patients' volume status and institute salt and fluid replacement in those with hypovolemia (or a low blood volume)

POTS patients also are subjected to a multitude of cardiac tests to ensure that their hearts are functioning properly.  These tests include, but aren't limited to: wearing a Holter monitor, an Endless Loop monitor, an EKG, and stress tests.

EDS

As I mentioned in my previous post, some people who have POTS, also have Ehlers- Danlos Syndrome.  Here is a little more information on EDS:

Ehlers-Danlos Syndrome is a connective tissue disorder in which EDS sufferers have excessive connective tissue in their blood vessels.  This allows the vessels to distend and blood to pool in the legs.  The effects range from unstable joints to life threatening complications.  There are several different types of EDS, but three primary types.

The classical form of EDS includes types I and II, which is characterized by hyperextensible (soft & stretchy) skin, bruising, difficult wound healing, thin scars, and hypermobile joints (double jointed).

Type III is characterized by stretchy and soft skin, normal scar formation, and hyperflexable.  They tend to be pale, female, blonde haired, and blue eyed.  Those with any type of EDS have been observed to have delayed gastric emptying, mitral valve prolapse, joint dislocations, and chronic pain (Especially Type III).

Another condition closely related to EDS III, is joint hypermobility syndrome.  Almost 80% of these patients showed dysautonomic symptoms.  Also, they also tend to have fatigue, anxiety, migraines, flushing, night sweats, and sleep disturbances.  Type III or JHS describes me perfectly even though I have never been diagnosed with EDS or JHS.


The combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classic forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classic type probably occurs in 1 in 20,000 to 40,000 people.
Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and fewer than 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.

Causes of POTS

Unfortunately there is not one simple cause of POTS. Normally, it is difficult to distinguish between the causes of POTS and its symptoms.  Here are some of the possible causes:

Cervical Stenosis- a narrowing of the spinal canal, which compresses the spinal cord and the nerve roots.

Chiari Malformation-  This is what I have.  The cerebral tonsils protrude into the spinal cord, which limits the flow of cerebral spinal fluid (CSF).  Some researchers and physicians believe that their is a link between Ehlers-Danlos syndrome, POTS, and Chiari 1 malformation.

Diabetes

Ehlers-Danlos Syndrome (EDS)- a connective tissue disorder which causes veins to distend in response to blood pressure.  It causes blood to pool in the lower limbs.  I will post an entry with more details of this disorder.

Electrical injury

Liver disease- it coincides with vasodilation and hypovolemia

Mast-cell activation disorders- increased urinary methylhistamine is present in these patients.  Vasodialator histamine and plasma prostaglandin 2 may contribute to symptoms.  Beta-blockers should not be prescribed to patients with these disorders because they can activate mast-cells

Nitric Oxide (NO) deficiency- NO controls the blood vessel size and the blood vessel leakiness.

Norepinephrine transporter deficiency- the enzyme that reuses norepinephrine does not properly function, and thus it is overused and becomes depleted.  They go from too much of the chemical to not enough, causing a crash.

The Nutcracker Phenomenon (NC)- the congestion of the left renal vein due to its compression by the aorta and the superior mesenteric artery.  There will be another post on this cause later.

B Vitamin deficiencies-  Especially B: 1, 3, 6, 9, and 12.

Syringomyelia- a cyst that grows within the spinal cord.  Occurs between the ages of 25 and 40 and comes on suddenly.

Viruses-  about 50% of POTS patients acquire the disease from viruses like the Epstein-Barr virus (Mono).  Half of these patients will recover within 2-5 years.

Head Injuries- like car accidents or a bad fall

Rapid Weight loss

There are probably many more causes of POTS, but for now, these are the majority of the causes that researchers know about.  Almost all of these causes are treatable, so keep that hope up!

Symptoms

One reason why POTS is so difficult to diagnose is due to the excessive amount of symptoms that patients experience.  Doctors automatically jump to the conclusion that you are a hypochondriac or crazy when you hand them a list that looks like this.  I know this from personal experience.  I promise, if you experience any/all of these symptoms, you are NOT crazy.  The conditions in blue are symptoms that I do not experience:

Lightheadedness
Dizziness
Fainting or near fainting (can occur when standing, sitting, or laying down)
General weakness/Fatigue
Loss of sweating
Excessive sweating- (you can experience both excessive and loss of sweating.  Certain areas of my body will no longer sweat, but when I am sleeping, the back of my knees are soaking wet)
Delayed gastric emptying
Bloating after meals
Nausea
Abdominal pain
Constipation or diarrhea
Excessive urination
Blurred or tunnel vision, floaters
Chest Pain/Palpitations
Shortness of breath
Tremors
Sleep disorders (un-refreshing sleep or nightmares)
Headaches
Anxiety (Probably due to never knowing when symptoms will arise)
Blood pooling in limbs- causes legs feel heavy and appear purple
Intolerance to heat- exacerbates symptoms
Feeling cold all over- especially in hands and feet because of blood pooling
Low blood pressure upon standing
Cognitive impairment-  difficulties with concentration, brain fog, memory and word recall
Low blood volume

Numbness or tingling sensations

Aching neck and shoulders- from reduced flow of cerebrospinal fluid

Noise sensitivity- Certain noises can activate episodes
Light Sensitivity
Sensitivities to certain smells
Arrhythmias- irregular heart beats.  A feeling of fluttering in your chest.
Chemical sensitivities
Feeling full quickly
Food allergies/sensitivities- White sugars/carbohydrates work quickly, but make symptoms worse when you experience a sugar crash.
Hyperreflexia- aka double jointed.  May be related to Ehlers-Danlos Syndrome.
Irregular menstrual cycles
Loss of appetite
Excessive thirst- normally associated with increased urination, since your body is outputting all of your fluids.
Weight loss or gain
Feeling detached from surroundings
Restless leg syndrome- can come from the blood pooling in the legs

These symptoms can vary not only from day to day, but minute to minute.  You never know when a seemingly "good day" can take a turn for the worse.  A "bad day" generally doesn't turn around.  On these days it is important to not overexert one's self, because being in an upright position will exacerbate symptoms.  This can seem daunting, but just remember that tomorrow is a completely different day and you will feel better.  Optimism is the most important thing!

I'd love to hear your comments!

My Story

This blog has been a long time coming.  I am a 20 year old junior in college and I cannot remember a time when I did not feel like I was going to pass out in the shower or when I first got out of bed in the morning.  It was just a few months ago that I realized that not everyone blacked out every time they stood up or when they tilted their heads up.

It all started when I was a junior in high school.  I had heavy menstrual bleeding-- so strong that I couldn't keep consciousness and wound up in the hospital on and off for two months due to my fainting and period troubles.  After these issues were resolved, I thought all my problems were over, until I right before I went off to college.  I fainted in sports medicine class; when I went to the pediatrician, she told me that a lot of young girls faint and not to worry about it.  I was at a medical camp shadowing an orthopedic physician when I fainted next.  The doctor said that many people faint when they see medical procedures; I knew this couldn't be possible since I had been standing at a work station, not even close to a patient.  I went to a cardiologist who did various tests including and EKG and a 24 hour heart monitor holster.  The results came back relatively normal.  He told me to be thankful that I didn't pass out everyday and he instructed me to drink Gatorade every once in a while.

When I moved to college my appetite went away, I developed extreme stomach pain, and I lost 15 pounds.  I came home for summer and had ankle surgery for a dance injury and continued to lose weight, faint, and be overwhelmed by abdominal pains.  By my sophomore year, I would have days when I couldn't get out of bed for fear of fainting, and when I could get out of bed, I would spend my days nearly getting sick.  I tried to stay connected with my friends, but they couldn't understand why I needed to sleep all the time.  Even taking a shower or walking around my apartment took a massive toll on me.

I got down to a terrifying 95 pounds.  My parents were incredibly concerned and they never left my side.  They fought for me when I wasn't strong enough to fight for myself.  I went to 14 doctors: pediatricians, general practitioners, an eating disorder specialist (who told me that I was faking to get attention), gastroenterologists, and naturopathologist.  I was subjected to EKGs, an endoscopy, ultrasounds, a CKG, gallbladder removal, blood tests, gastric emptying tests, and a small intestine barium study.  Everything was normal.  Doctors chose to ignore my syncope symptoms and focused on my intestinal problems.  When they couldn't find anything, they gently implied that I was faking.

Finally, doctor #14, a neurologist, offered me the answers that I had been so desperately looking for.  After an EEG, a tilt table test, and an MRI, I was diagnosed with Postural Orthostatic Tachycardia Syndrome, or POTS, which is a form of dysautonomia.  Every day is a still a challenge, but I am so relieved to finally know what has been plaguing me for years.  I wanted to write this blog because POTS is so rarely diagnosed, and many doctors don't know about it.  We need to raise support for dysautonomia awareness.