What Is POTS??

What Is POTS??

Wednesday, September 14, 2016

Joint Hypermobility Syndrome and EDS And The Association with POTS

What is Joint Hypermobility?

Hypermobility is when your joints are more flexible than normal and move beyond the normal range of motion. It is often referred to as being double jointed. When this accompanied by muscle or joint pain but without any systemic disease, it is referred to as hypermobility syndrome. But when it has a more widespread effect on the body it usually involves conditions or syndromes like Marfan or Ehlers-Danlos syndrome.

Girls are more hypermobile than boys are. It tends to run in families, but the exact cause isn't known. It is believed that the genes involved in the production of collagen, which is an important protein for joints, tendons, and ligaments, are involved. Syndromes like Ehlers-Danlos and Marfan are inherited disorders. People with Down's Syndrome are frequently hypermobile. Other conditions associated with hypermobility are SLE/Lupus, fibromyalgia, and chronic fatigue syndrome. And I will eventually get to POTS

Some children do not have any symptoms. But others have joint and muscle pain in the afternoon or evening after they have been active. The knees, elbows, calf and thigh muscles are commonly affected. And the pain gets better after rest.

Children with hypermobility are prone to sprains and soft tissue injury, as well as dislocated joints. They also have something called impaired joint position sense and back pain along with flat feet.
This can cause chronic pain. Their skin may also be loose, and they may have an unusual amount of bruising.

The cramping and deep muscle ache commonly referred to as growing pains are more prevalent in children with hypermobility.

This excessive flexibility lessens as the children get older and the symptoms get better. But for some people, this doesn't happen and they remain prone to dislocations for their whole life.


  • Can you touch the floor with the palms of your hands flat while the knees are unbent?
  • Can your elbows go beyond straight?
  • Can you move your thumb to touch your forearm?
  • Can your little fingers be moved so that they are perpendicular to the upper arm?

Treatments for hypermobility has to be individualized. And it is dependent upon the severity of the symptoms. Some children do not require treatment.

Exercise is important. Maintaining good posture when standing and sitting is important. Standing with the knees bent slightly and avoiding over-extending joints is very important. Patients need to wear good shoes that have good arch supports do to flat feet. Physical therapy is necessary in some cases to strengthen the muscles and joints and prevent injuries.

Medicine for pain management usually is limited to acetaminophen an NSAIDS. For severe cases, pain management doctors may be necessary. http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Hypermobility-Juvenile

 For more information; http://hypermobility.org/help-advice/

I'm pretty sure I have hypermobility and it seems to run in the family. Because I can do several of these things in the photos. However, mine is probably associated with Lupus, which I will get to later. 

Joint hypermobility - have you heard of it?

EDS/ Ehlers-Danlos Syndrome

In general Ehlers-Danlos Syndrome or EDS differs from other types of hypermobility in that there is skin involvement due to collagen problems.

Ehlers-Danlos Syndrome or EDS is a group of heritable connective tissue disorders. It is believed to alter the way collagen works in the body, and can affect multiple systems in the body. Their are certain physical characteristics to each type. Most of the types have known genes that cause them.

Statistically, 1 in 2,500 to 1 in 5,000 people have Ehlers-Danlos Syndrome. It effects both male and females as well as all races and ethnicities.

Common to all types of EDS are hypermobile joints, skin involvement, like soft, stretchy, saggy or think skin, bruising easily, easy wounding and wounds that heal poorly and leave scars.

But each type still has unique features. Usually people don't have more than one kind of EDS.

People with EDS have hypermobility of joints. Their joints frequently dislocate and sublux. Their joints hurt. And they can hyperextend. They usually have osteoarthritis early in life.

Their skin can be described as velvety soft. It is very stretchy, and it is fragile, meaning that it tears and bruises easily, and the bruising can be severe. Injuries leave severe scars, and wounds heal poorly and slowly.

There are also miscellaneous and less common symptoms, depending on type.

Hypermobility type sometimes has chronic, early onset, musculoskeletal pain. Vascular Type sometimes has arterial/intestinal/uterine fragility or rupture; Kyphoscoliosis Type sometimes has scoliosis at birth and scleral fragility; Arthrochalasia Type sometimes has poor muscle tone; and they all can have mitral valve prolapse; and gum disease.

The different types of Ehlers-Danlos Syndrome is differentiated by whatever problem it causes with making or using collagen. Collagen is the protein that the body used to make tissue strong and to make it elastic. Collagen is the most abundant protein in your body and different types are found in the skin, muscles, tendons and ligaments, as well as the blood vessels, organs, gums, and eyes. In normal collagen tissues do not stretch beyond the limit, and will return to normal. Collagen is all over in the body. EDS is a problem with this basic building material in the body. The structure of the collagen is defective. Because of this tissue can be pulled beyond what is the normal limits and this results in damage.

Because collagen is in so many areas of the body EDS is a systemic problem.

Ehlers-Danlos Syndrome is divided into six different types, and several different mutations that don't fit into those categories. There are different signs and symptoms for each type. And a child who has EDS will always have the same type as their parent has. A parent who has Classical Type Ehlers-Danlos Syndrome will not have a child with Vascular Type Ehlers-Danlos Syndrome. The types are:

  • Hypermobility Type
  • Classical Type
  • Vascular Type
  • Kyphoscoliosis Type
  • Arthrochalasia Type
  • Dermatosparaxis Type
  • Other Types
You can read more about the types here: http://ehlers-danlos.com/eds-types/

The diagnosis of Ehlers-Danlos Syndrome is based on specific criteria depending on the type. Diagnosis is made based on the family history and clinical observations. Genetic testing can be done for Ehlers-Danlos Syndrome, except in the most common type, Hypermobility Type.

Different EDS types have different prognosises. Those who have Vascular Type EDS have shortened life expectancy because of the possibility of organ and blood vessel ruptures. The other types of EDS do not have a shorter life expectancy. The severity of the condition varies from person to person even within families. Each case is unique to the patient. There is no cure for Ehlers-Danlos Syndrome, but the symptoms can be treated.


Other Types of Hypermobility
Marfan Syndrome
Sticklers Syndrome
Pseudoxanthoma Elasticum

I am not going to cover all of them, but I am going to go over  Marfan Syndrome and the association of Lupus with hypermobility.  And then POTS.


Marfan syndrome is also genetic. It affects the connective tissue by in a different way than EDS. 
There are other proteins that make up connective tissue besides collagen. In Marfan Syndrome the problem is with a protein called Fibrillin. There is not enough of it. And there is a problem with how it interacts with Transforming Growth Factor – Beta. This causes the tissues to be weak and fragile.
Because connective tissue holds all of the bodies cells, organs and tissue together, it is involved in how the body grows and develops. With Marfan Syndrome, the aorta, bones and eyes are involved. 
 With Marfan Syndrome there can be aortic enlargement, which can be life threatening. The lungs, skin and nervous system can also be affected. 

Around 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups. Around 75% of people with Marfan syndrome inherit it, meaning it is a genetic mutation. Some people with Marfan  have no other family members who have it and this is called a spontaneous mutation. People who have Marfan Syndrome have a 50% chance of passing it on to their children.  
Even though people with Marfan Syndrome are born with it, signs and symptoms do not always show up immediately. Sometimes complications like aortic enlargement do not show up until later in life.  Marfan affects heart and blood vessels, as well as bones and joints, and it is usually a progressive condition. 
Early diagnosis is key in MFS. It is important to have good medical care if you have Marfan Syndrome/ MFS. Patients are at risk for life threatening complications. 
People with MFS can have aortic tears as well as bulging aorta called an aortic aneurysm. There is also sometimes mitral valve prolapse and congestive heart failure. 
With the lungs, besides lung collapse, patients can have asthma, emphysema, and sleep apnea. 
Some of the signs of MFS are obvious, although each patient will have different combinations of them:
  • Long arms, legs and fingers
  • Tall and thin body type
  • Curved spine
  • Chest sinks in or sticks out
  • Flexible joints
  • Flat feet
  • Crowded teeth
  • Stretch marks on the skin that are not related to weight gain or loss
Some of the other signs are sudden lung collapse and eye problems that include severe nearsightedness,  and sometimes farsightedness called hyperopia, detached retina, dislocated lens, early glaucoma and early cataracts. There is also a condition called strabismus, where the eyes don't line up and look the same direction at the same time, similar to lazy eye.

The most obvious sign of Marfan Syndrome is how the people are built they are unusually tall, with unusually long arms, legs and fingers. Abraham Lincoln may have had Marfan Syndrome. Abraham Lincoln and Marfan Syndrome He had disproportionately long limbs and fingers. 

Marfan's Syndrome - CRASH! Medical Review Series

Marfan Syndrome Diagnosis and Treatment-Mayo Clinic

Lupus and Hypermobility

"Thirty nine (48%) patients with SLE and 42 (15%) of the control group were hypermobile. A logistic regression model was developed. The odds ratio of the association between laxity and SLE after adjustment for age and sex was 2.31 in the group younger than 49 years, and 17.99 in the group aged 49 years or older. Neither the clinical and analytical profile nor the use of corticosteroids was related to joint laxity.

Conclusion: Patients with SLE showed more hypermobility than controls. Hypermobility was more profound in older patients with SLE (≥49 years). Joint laxity was not associated with any clinical or analytical pattern. Treatment with corticosteroids was not related to joint laxity." Annals of Rheumatic Disease The Eular Journal, Association of systemic lupus erythematosus and hypermobility

Eighty percent of patients with Ehlers-Danlos Syndrome hav POTS. But not all POTS patients have EDS. Those patients who do have EDS usually have Type III EDS, the hypermobility type.

Lupus and EDS and MFS all cause POTS at least in part because  they have connective tissue abnormalities which allow excessive amounts of blood to pool in these patients' lower limbs when they stand up. In the case of Lupus, there can also be all of the neurological autonomic system problems.Autoimmune disorders,such as Guillain-Barre (Singh, Jaiswal, Misra & Srivastava, 1987) and lupus are suspected of causing POTS symptoms in some individuals. 

"Researchers have discovered an antibody to neuronal nicotinic acetylcholine receptors of autonomic ganglia (Vernino, Low, Fealey, Stewart, Farrugia & Lennon, 2000).  Some people with POTS have an antibody titer test that is positive to this antibody. Patients with orthostatic intolerance, anhidrosis, constipation, urinary dysfunction, sicca syndrome and pupillary dysfunction had higher antibody titers than subjects that did not (Gibbons & Freeman, 2009). Patients with the highest levels of these ganglionic-receptor-binding antibodies have the most severe autonomic dysfunction. Physicians have discovered that antibody levels lower as some patients improve, which suggests a cause and effect relationship. Patients interested in being tested for the ganglionic antibody should have their physician contact:"

Mayo Medical Laboratories

"One study on patients with "joint hypermobility syndrome", a disorder similar if not identical to EDS III, showed that 78% had signs of dysautonomia, such as orthostatic hypotension, postural orthostatic tachycardia syndrome and uncategorized orthostatic intolerance (Gazit, Nahir, Grahame, & Jacob, 2003). These patients also had evidence of a-adrenergic and B-adrenergic hyperresponsiveness. The authors of this study note that patients with the joint hypermobility syndrome have apparently intact vagal control of heart rate with disturbed sympathetic function. They further state that "the sympathetic dysregulation associated with joint hypermobility syndrome may have several explanations, such as peripheral neuropathy, blood pooling in the lower limbs, impaired central sympathetic control, or deconditioning due to muscle disuse through pain or fear of pain".

Another study of one hundred and seventy women with joint hypermobility syndrome concluded that non-musculoskeletal symptoms are common in patients with joint hypermobility syndrome, and that individuals with these symptoms may express more fatigue, anxiety, migraine, flushing, night sweats, and poor sleep than their peers (Hakim & Grahame, 2004)." http://www.dinet.org/index.php/information-resources/pots-place/pots-causes

Don't forget to check out the POTS videos at the bottom of the blog. You have to scroll down to the bottom to find them.

Connecting the Dots Between EDS and POTS

PoTS and Hypermobility Syndrome - Blair Grubb, MD

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