pain management Archives

LDN and Chronic Pain Related to Ehlers-Danlos Syndrome (EDS)

Please see an interview with Dr. Norman Marcus and Jay Gill, discussing the use of low dose naltrexone for treating chronic pain related to Ehlers-Danlos Syndrome (EDS).




Ehlers Danlos Syndrome (EDS) is a connective tissue disorder that affects skin and joints between bones. The most common type of EDS is hEDS or hypermobility EDS. People with hEDS are usually more flexible or bendy than the average person. Being able to do a split, being able to bend your thumb back so it touches your wrist, and stretchy skin are three common signs of joint hypermobility. On the surface, these symptoms don’t seem too problematic, but hEDS can cause widespread pain in the body and many other problems.

There is growing research on the link between hEDS and another condition called called Mast Cell Activation Syndrome (MCAS). One recent study done by Song et al. in 2020 identified that 24% of a group of EDS patients also had MCAS.  This is a very exciting finding for EDS researchers because as of now, the genetic causes of EDS are unknown. Therefore, studying MCAS may provide an avenue for exploring the origins of EDS in the body.

Both of these conditions share many different symptoms including skin hives, skin flushing, itchy skin, nasal or sinus congestion, asthma, gastrointestinal disorders like irritable bowel disorder or celiac disease, and many more. Research connecting these two conditions is a new and exciting field for researchers trying to get to the bottom of the physiology of Ehler’s Danlos Syndrome.

If you know you have EDS or hypermobility, and also experience pain and allergy symptoms like hives, coughing, wheezing, or redness in the skin, it’s possible you also have Mast Cell Activation Syndrome.





What is Ehlers-Danlos Syndrome?

Ehler’s Danlos Syndrome (EDS) is a condition that affects the connective tissues of the body. There are 13 types of EDS, and the most common one is hEDS or hypermobility EDS, which affects approximately 1 of 3,100-5,000 people. EDS can be inherited genetically.

The three most common symptoms in people with hEDS are joint hypermobility, skin hyperextensibility, and tissue fragility.

Can you do a split? Or does your thumb bend backwards so far that it can touch your wrist? Those are two examples of joint hypermobility. Joints are the pieces of connective tissue that are between our bones. Joint hypermobility can be a problem because it makes people more likely to be injured through dislocations, sprains, or other joint problems.

Skin hyperextensibility means excessively stretchy skin. A common test for this is putting your hand flat on a table, and gently pinching and pulling the skin on the back of your hand.

Tissue fragility can also be a problem for people with EDS. Medically speaking, tissues are like the armor of our bodily organs. For example, our skin is a type of tissue (epithelial), but there is also nervous tissue, connective tissue and muscle tissue. Tissue fragility can be a problematic part of EDS because it leaves our organs more vulnerable to damage and injury. Because tissue is in all parts of our bodies, tissue fragility can pose a wide range of other symptoms, from bruising to gum disease.

Because EDS symptoms can vary so widely, there is no one mainstay of treatment for EDS patients. Rather, treatment plans are based on the individual. EDS patients should seek a care team of specialists from multiple disciplines to ensure that all of their symptoms are being treated differently and professionally.




Why Mast Cell Activation Syndrome is a tricky diagnosis

Mast Cell Activation Syndrome (MCAS) is a common condition that can cause widespread pain in the body as well as allergy symptoms like hives, itchy skin, and congestion. MCAS is hard for doctors to diagnose for a few reasons. The main reason is that it is an under researched condition despite its commonality. Doctors are only recently starting to understand just how common MCAS is, and how important it is to study it.

MCAS has a lot of symptoms that aren’t frequently associated with each other. In fact, MCAS symptoms can occur all over the body, for example, the skin (hives), the gastrointestinal system (stomach pain), the cardiovascular system, or the respiratory system. With these seemingly unrelated symptoms, MCAS presents as a confusing condition to those who are unfamiliar with it. It is a condition that may even require multiple experts to treat due to its vast range of symptoms.

Thankfully, more and more primary care providers are learning about this common condition that may affect up to 17% of the general population, as research has been expanding greatly in the past decade. More treatment options are currently being developed in the clinical trials stage. If you have MCAS, or think you might, we encourage you to learn more about a clinical trial opportunity we currently have in our clinic.





Could Your Pain Be Related to Mast Cell Activation Syndrome?

Do you have widespread pain? Do you also have allergy symptoms like itching, hives, or wheezing? You may have gone a long time thinking pain and allergy symptoms were unrelated, but you could have Mast Cell Activation Syndrome (MCAS), a condition that causes both.

If you have never heard of MCAS, that’s because MCAS is a condition that is only gaining recognition in the past decade or so. There are many doctors who are not familiar with MCAS. It was once thought to be a rare condition, but current estimates are that it could affect up to 17% of the general population. It’s important that such a common condition be understood.

MCAS is hard for doctors to diagnose for a few reasons. The main reason is that it is an under researched condition, despite being likely very prevalent. Furthermore, MCAS has a lot of symptoms that aren’t frequently associated with each other. Mainly, pain symptoms and allergy symptoms. In fact, a MCAS diagnosis requires that symptoms occur in two organ systems, for example, the skin (hives), and the gastrointestinal system (stomach pain). The two other most common organ systems affected by MCAS are the cardiovascular system, and the respiratory system. Cardiovascular symptoms include low blood pressure and fainting. Respiratory symptoms include shortness of breath, congestion, sneezing, or wheezing.

MCAS can be a confusing condition due to the vast range of symptoms that a person with MCAS can experience. A person with MCAS could go to a pain doctor and an allergist separately to seek answers for their two different symptoms. They might not bring up their stuffy nose and skin hives with the pain doctor, and they might skip the pain conversation with the allergist. As a result, the pain doctor and allergist might diagnose this patient with something completely different. Without a full picture of a person’s overall symptoms, it is tough to diagnose MCAS, which is why it is important for doctors to learn more about this condition.

If you have allergies and pain symptoms, you may have never thought about how these two seemingly unrelated symptoms might be a sign of a single condition. To learn more about a potential MCAS diagnosis, visit the link below and find out about a clinical trial on a medication for MCAS that may ease allergy and pain symptoms.




Three Types of Mast Cell Activation Syndrome

Mast cells are important cells in our immune systems that help us fight off sickness, infections, and allergies. Although these cells are vital to protecting our bodies, some peoples’ mast cells can be too active for no good reason. In these cases, the mast cells might cause more harm than good. When Mast Cells are overly active, Mast Cell Activation Syndrome (MCAS) may sometimes be diagnosed. In MCAS, Mast Cells release excessive chemicals into the bloodstream. This reaction can cause swelling, hives, coughing, and pain.

There are three main types of MCAS that are recognized:

  1. Primary
  2. Secondary
  3. Idiopathic.

Primary MCAS is when the bodies’ mast cells clone themselves excessively. In these cases, mast cells gather in organ tissues in excessive numbers. Symptoms of primary MCAS can occur in pretty much any organ in the body. Common symptoms are allergy-like. For example, skin rashes, hives, and abdominal pain. Especially serious cases of primary MCAS can be called mastocytosis, a life-threatening condition that can cause serious allergic reactions called anaphylaxis.


Even though you may have not heard of it, you are probably familiar with secondary MCAS. Do you have any allergies? If so, you may have secondary MCAS. Secondary MCAS may be diagnosed when a person experiences allergic reactions, for example, to nuts or shellfish. Unlike in primary MCAS, mast cells do not clone themselves abnormally in second MCAS. In fact, people with secondary MCAS have a perfectly normal amount of mast cells. However, these mast cells are overactive and release excessive chemicals into the bloodstream (such as histamine), which cause allergic like reactions. Some examples of environmental triggers can include pollen, food, and alcohol.


Idiopathic MCAS is an interesting condition that can be frustrating for patients who have it. This is because these patients experience allergy-like symptoms, but they are not allergic to anything. In other words, idiopathic MCAS can cause seemingly allergic reactions for no reason at all. For MCAS to fall into the idiopathic category, there must be no evidence of an excessive amount of mast cells (primary MCAS), and the allergy-like symptoms must not be triggered by an actual allergy. For someone to be diagnosed with idiopathic MCAS, the doctor must make sure that they rule out all potential causes of the allergy symptoms.  Although not typically, patients with idiopathic MCAS may still have serious reactions (anaphylaxis).MCAS in all its forms is treatable through different strategies. Helpful interventions for primary, secondary and idiopathic MCAS may include antihistamines to calm allergy symptoms. For cases of secondary MCAS where the allergic trigger is known, lifestyle changes can go a long way in calming down mast cells.





Idiopathic Mast Cell Activation Syndrome (MCAS)

Are your “allergic symptoms” and pain related to idiopathic Mast Cell Activation Syndrome (MCAS)?

Hives, rashes, itching, problems breathing, and pain in your stomach or other parts of your body may all be related to allergies. Your doctor may have tested you, but did not find what you might be specifically allergic to, for example types of foods or substances surrounding us like pollen, dust, and mold. If you didn’t have evidence of an allergy to any or only a few of these substances, then what is causing your symptoms?

Your symptoms may be caused by excessive activity in a special cell in your body called the Mast Cell (MC) which is stimulated whenever you experience any irritation. The MC helps to fight off infections and help repair damaged tissue by producing many different powerful substances. However, when it is overactive, these substances may be produced by the MC after exposure to ordinary stimuli including a hot shower, sunlight, perfumes, cleaning solutions, and a variety of foods. Overactive MCs may cause diffuse pain in various parts of your body.

Doctors have been aware that increased numbers of MCs can cause serious symptoms in different organs. When there are too many MCs the diagnosis is often Mastocytosis, which requires specialized treatment. When the number of MCs is normal and the MCs are just overactive, the diagnosis, which is a relatively new discovery, is often idiopathic Mast Cell Activation Syndrome (MCAS) and can be diagnosed with several blood and urine tests. However, if you have symptoms in 2 or more organ systems, for example skin rashes, heart burn, asthma like symptoms, and your symptoms improve with an anti-histamine, you may be diagnosed with idiopathic MCAS without complicated testing.

Our body makes a substance that can down-regulate the activity of the MC. It is called palmitoylethanolamide (PEA). It is in the family of substances, called cannabinoids, and is related to the molecules that are present in marijuana. Other substances can down regulate the MC such as Cromolyn Sodium. Since one of the main substances produced by the MC is histamine, medications that block histamine. such as antihistamines used for allergies and histamine antagonists used for heart burn, may be helpful in reducing the symptoms of overactive MCs.

If you have diffuse pain and other symptoms, like the ones above, that have been difficult to diagnose and treat, you may have MC problems that can be treated.




What is a clinical trial

How do we test new medicines before they are released to the public?

Let’s say for the sake of this example that there’s a new drug that is potentially effective at treating people with muscle pain. The process to test that treatment is called clinical trials. To test the medicine, clinical trials occur in different stages, called phases. Phase I testing is done on healthy volunteers without muscle pain. If the drug is found have unsafe side effects, it would fail phase 1 and be withdrawn from further testing. If the drug passes Phase 1, it goes on to Phase 2 which studies a small group of patients with muscle pain to see if the new drug is effective in treating the condition without producing serious side effects. If the drug passes Phase 2 it goes on to Phase 3 which tests a larger group of patients with muscle pain to confirm the effectiveness and safety found in Phase 2.

There are strict guidelines that researchers must follow when conducting clinical trials to ensure the safety of their human subjects. Regulatory bodies such as the FDA monitor clinical trials to ensure that all guidelines are being followed. If the physicians in charge of a new drug trial are found to not follow the guidelines, they are removed from their trial and may lose their ability to participate in any future trials.

Participation in a new drug study can be an exciting experience–especially when it results in a decrease or elimination of your symptoms. Before a patient begins a clinical trial, all the possible risks that may occur during the study are spelled out in a document called the consent form. The consent form is signed by the participant before they start treatment. The consent form makes it clear that declining to participate in a study will not affect the participant’s future care, and that they may withdraw from the study at any time for any reason.

A drug study is an experiment. To ensure that enthusiasm about the new drug doesn’t influence the outcome–for example hoping that the treatment is going to work will make you believe that it works–some participants will receive an inactive drug called a placebo. Whenever possible, the physician administering the drug will not know if they are giving you the real drug or the placebo. This type of study, where the physician and the study participant do not know which medication they receive, is called a double-blind study. Participants are informed at the end of the study if they received the active drug or the placebo.

Some drug trials provide financial compensation for time and participation. Some trials will only compensate you for any expenses that you incur in the process of participating in the study. Participation in a study may or may not benefit you directly but will potentially benefit many patients in need of new effective treatments.


Sitting with your legs crossed may be contributing to your back pain

Think of some of the ways you sit. Whether taking a ride on the subway, waiting patiently at the doctor’s office, or sitting as a passenger in a car, the way we sit, especially for prolonged periods can have an effect on the pain we may experience in our low back.








For many of us, sitting with our legs crossed feels comfortable in the moment but have you ever considered how this can affect your back and cause pain? What happens to your spine and muscles when sitting with your legs crossed for an extended period of time? When considering good posture, a large component is keeping your spine neutral and avoiding positions that twist the spine or cause misalignment. When sitting with your legs crossed, your pelvis becomes tilted and unconsciously, we tilt our entire torso towards one side. There is a curvature towards one side in the low back which then creates problems in other areas of the spine. Naturally, with a tilt of the pelvis, the upper body will compensate by leaning the opposite direction to maintain balance. Working from the bottom up, pressure on the lumbar spine will cause curvature and misalignment in the thoracic spine. This places strain on the cervical spine to keep the head in the upright position.


Sitting with our legs crossed can also affect our muscles. There are two common sitting positions that we should be mindful of, knee over knee or foot over knee for a prolonged period can cause a tightness in the hamstrings, hip flexors and glute muscles. The iliopsoas, one of the major hip flexor muscles, is responsible for external rotation of the femur and an integral part in maintaining posture. This muscle may become strained due to contraction while the pelvis is tilted. You may notice soreness and tenderness in the low back and hip area. Similarly, sitting foot over knee can over time damage the muscles in the inner thigh. Most commonly, the sartorius muscle can become tight and cause discomfort when sitting with the calf over the knee. At the Norman Marcus Pain Institute, Iliacus and Psoas muscles on the hip can be treated for pain. As one of the most common muscles causing pain for patients, when treated, the Iliacus and other hip flexors can provide great relief for pain in the low back, buttock and groin.

Instead of sitting with crossed legs, sit in a chair with height necessary to place both feet flat on the floor. While sitting upright with your back against the chair, you may want to consider placing a cushion under your bottom that can add support to the low back.


Lee BJ, Cha HG, Lee WH. The effects of sitting with the right leg crossed on the trunk length and pelvic torsion of healthy individuals. J Phys Ther Sci. 2016 Nov;28(11):3162-3164. doi: 10.1589/jpts.28.3162. Epub 2016 Nov 29. PMID: 27942141; PMCID: PMC5140821.


Best Posture for Reading: How to alleviate back pain

There’s nothing better than snuggling into a good book. But are you experiencing back pain while sitting and reading for an extended period? Back pain can often be caused by improper posture. While reading, whether using a physical book or an electronic device, many people experience back pain in the neck and shoulder or in the low back. Here are some ways to alleviate back pain while reading.

Reading can cause strain on the neck and shoulders if there is a tilt in the neck to look down at your book or device. While sitting and reading, it’s important to place your reading material at eye level. Sitting with your head leaning forward and back hunched can cause hyperflexion of the cervical spine and lead to severe neck and back pain over time. It is best to use a stand that can be adjusted to the required height. Many have recommended raising your materials with your hand; however, this may also cause some strain on the neck and shoulders. While holding an object in front of you at eye level, either with one or both hands, your shoulder and neck muscles are in constant contraction to sustain this positioning. Even over a period of a few minutes, this can cause the muscles to spasm or cause intense strain. Using an adjustable stand will ensure that we can sit straight up, taking pressure off of the cervical spine.

The best posture for reading is sitting upright in a chair with lumbar support. Avoid sitting on a seat that lacks back support such as a stool or a bench. A chair with good ergonomics is one that supports the low back and provides an arm rest to place both elbows. Mentioned above, we want to avoid stiffness in the upper back and neck muscles. Placing your elbows on an arm rest that is low enough to support your arms without adding additional strain is ideal. A study examining the association of low back pain with cell phone use found that thoracolumbar kyphosis and lumbar lordosis (curvature in the spine causing a pelvis tilt) increased with prolonged sitting. Participants had a slouch and progressed spine curvature after sitting for longer than 30 mins. The study also found that those with pre-existing back pain had a significantly higher increase in lordosis and complained of more back pain. When sitting for longer than 30 minutes, take breaks. Sitting should be interrupted by standing breaks to keep blood flowing and reduce stiffness in muscles.

To summarize, here are some things we can do to minimize back pain while reading or using a device while sitting.

– Sit with back and arm support for your neck and shoulders

– Bring your reading material or device to eye level to avoid neck strain

– Take breaks and stand for a minute or so while sitting for more than 30 minutes


In TS, Jung JH, Jung KS, Cho HY. Spinal and Pelvic Alignment of Sitting Posture Associated with Smartphone Use in Adolescents with Low Back Pain. Int J Environ Res Public Health. 2021 Aug 7;18(16):8369. doi: 10.3390/ijerph18168369. PMID: 34444119; PMCID: PMC8391723.


How your sleeping position affects your back pain and neck pain

We all have different preferences when it comes to sleeping. Some of us are side sleepers while others may prefer to sleep on our backs. But there may be a few things to consider about your sleeping position that may be contributing to your back pain. Here are three ways to sleep to help prevent back pain and get a good night’s rest.

Sleeping on your side.

When laying on your side. Be sure to first support your head and neck. This can be done by placing as many pillows or supports as needed to keep the cervical spine neutral and the muscles surrounding it relaxed. These pillows or supports should be placed in the gap between the neck and the head, until the head is upright. Try to avoid raising your arm above your head as this may cause additional strain in the neck and shoulders. To keep the lumbar spine as neutral as possible, place a pillow between your knees. You may need to find a pillow that has enough support to hold the leg. This prevents the hips from rotating forward toward whichever side you are leaning on and helps to prevent rotation in the hips.

Sleeping on your back.

The recommendations for sleeping will be the same with slight adjustments for positioning. You must support your head and neck while sleeping on your back. This can be accomplished by placing your pillows in the gap between your neck and the bed while ensuring the top of the head is also lifted. This prevents an over extension of the cervical spine. Secondly, place a pillow under your knees to raise them slightly above the pelvis. This tilts the sacrum and the spine to neutral position.

Sleeping on your stomach/front.

A study on the relationship between sleep posture and spinal symptoms found that the prone sleeping position or sleeping on your front is the largest contributor back pain and poor quality of sleep. Although this sleeping position is not recommended for extended periods of time. If you need to sleep on your front, place a pillow under your hips to prevent curvature in the lower back. Additionally, a pillow should be placed under the ankles to provide comfort for the knees and avoid hyper extension of the hamstrings. Although it may be comfortable in the moment, raising a knee to either side may cause additional rotation in the sacrum and over time cause strain on the hip flexor muscles and muscles surrounding the spine.

To summarize, here are some ways you can avoid back pain while sleeping:

– Support your head and neck

– Avoid curvature in the back and rotation of sacrum for an extended period of time.

– Use pillows when necessary for additional comfort.


Cary D, Briffa K, McKenna L. Identifying relationships between sleep posture and non-specific spinal symptoms in adults: A scoping review. BMJ Open. 2019 Jun 28;9(6):e027633. doi: 10.1136/bmjopen-2018-027633. PMID: 31256029; PMCID: PMC6609073.

Cary D, Jacques A, Briffa K. Examining relationships between sleep posture, waking spinal symptoms and quality of sleep: A cross sectional study. PLoS One. 2021 Nov 30;16(11):e0260582. doi: 10.1371/journal.pone.0260582. PMID: 34847195; PMCID: PMC8631621.


How neck pain affects your walking

A recent study done in Turkey took a look at the walking patterns of chronic pain patients- ideopathic neck pain, to be specific. They based their hypothesis around previous studies that have shown that people with chronic ideopathic neck pain (CINP) had abnormal walking patterns (known as gait), whether it be in the physical pattern or in the timing of their walks.

The scientists recruited 20 individuals with CINP as well as 20 healthy individuals without CINP to perform 10 minute walking tests with pressure sensitive insoles inserted into their shoes. They performed three different tests: Preferred walking, preferred walking with head rotation, and walking at maximum speed.

The study showed that individuals with CINP had a slower gait speed in all three walking conditions compared to the control groups. The gait was also found to be asymmetric in individuals with CINP in two out of three of the different test groups. This is important because gait asymmetry has the potential to load your entire body unequally, causing unbalanced strain on your muscles, joints, and other problem areas. These can lead to other musculoskeletal problems in the future.

Here at Norman Marcus Pain Institute, we see many patients with chronic pain everywhere, not just in the neck. We also often see collapsed arches in patients’ feet as well as uneven strides that can be magnifying discomfort on one side of the body vs the other. Recently we have started recommending special orthotics designed to strengthen and correct imbalances and weak arches. We occasionally recommend that our patients see a professional gait analyst to find ways to correct these imbalances to relieve some of the strain that their muscles may be experiencing.


Ehlers-Danlos Syndrome (EDS) Demographics & Characteristics

A recent study released by Rheumatology takes a look at the demographics of 280 patients previously diagnosed with hypermobility syndrome. They gathered a cohort of 280 patients – 90% female and 10% male, between ages 18 and 66 (it is generally accepted that females have a higher rate of hypermobility than males, though it is not clear why). 95% of these patients had what was previously known as EDS type 3, now known as hypermobile Ehlers-Danlos Syndrome (hEDS). They proceeded to analyze a comprehensive medical history.

The average age of diagnosis of these patients was 29. 66% of patients had a family history of hypermobility, which corresponds with what we know about the genetic nature of Ehlers-Danlos syndrome. A family history of hypermobility and/or EDS is one of the accepted criteria to be diagnosed with hEDS.

66% of the patients had orthostatic intolerance, meaning their vitals changed dramatically when standing up and returned to “normal” when lying down. This includes drastic increases in heart rate and decreases in blood pressure due to the body’s inability to properly compensate for the challenges of standing upright. Almost half of those with orthostatic intolerance had bowel problems, compared to only 19% without intolerance. 45% had gastrointestinal problems, and 39% had bladder dysfunction. Chronic joint and muscle pain were reported in 91% of the patients. Approximately half of these patients with chronic pain used opioids long-term to relieve their pain. 43% patients reported being on work disability.

While the official clinical diagnoses for hypermobile EDS focus on joint hypermobility and skin hyperextensibility, the study confirms that this particular condition is systemic and also has a high correlation to orthostatic intolerance and chronic pain. Therefore it is important to look at a holistic, overall approach of each patient suspected to have hEDS in order to properly assess how to improve the quality of life of each person living with hEDS.

Ref: Dojcinovska, M., Cohen, H., & Wolman, R. (2019). 200 Demographics and clinical characteristics of a national cohort of 280 patients with hypermobility syndrome and impact on their work disability. Rheumatology, 58(Supplement_3), kez107-016.


Updated Ehlers-Danlos Criteria

In May 2017, there were several changes in the criteria for the diagnosis of what used to be Ehlers-Danlos Syndrome Type III, hypermobility type. First, the name has been changed to hypermobile Ehler-Danlos Syndrome or hEDS. Instead of six types, there are now 13 types.


  Clinical EDS subtype Abbreviation IP Genetic Basis Protein
1 Classical EDS cEDS AD Major: COL5A1, COL5A1 Type V collagen
        Rare: COL1A1 Type I collagen
        c.934C>T, p.(Arg312Cys)  
2 Classical-like EDS clEDS AR TNXB Tenascin XB
3 Cardiac-valvular cvEDS AR COL1A2 (bilallelic mutations that lead to COL1A2 Type I collagen
        NMD and absence of pro α2(I) collagen chains)  
4 Vascular EDS vEDS AD Major: COL3A1 Type III collagen
        Rare: COL1A1 Type I collagen
        c.934C>T, p.(Arg312Cys)  
        c.1720C>T, p.(Arg574Cys)  
        c.3227C>T, p.(Arg 1093Cys)  
5 Hypermobile EDS hEDS AD Unknown Unknown
6 Arthrochalasia EDS aEDS AD COL1A1, COL1A2 Type I collagen
7 Dermatosparaxis EDS dEDS AR ADAMTS2 ADAMTS-2
8 Kyphoscoliotic EDS kEDS AR PLOD1 LH1
        FKBP14 FKBP22
9 Brittle Cornea Syndrome BCS AR ZNF469 ZNF469
        PRDM5 PRDM5
10 Spondylodysplastic EDS spEDS AR B4GALT7 β4GalT7
        B3GALT6 β3GalT6
        SLC39A13 ZIP13
11 Musculocontractural EDS mcEDS AR CHST14 D4ST1
        DSE DSE
12 Myopathic EDS mEDS AD or AR COL12A1 Type XII collagen
13 Periodontal EDS pEDS AD C1R C1r
        C1S C1s
IP, inheritance pattern; AD, autosomal dominant; AR, autosomal recessive; NMD, nonsence-mediated mRNA decay



hEDS continues to have no obvious known genetic testing and is only diagnosed through clinical testing.

As mentioned earlier, the Beighton scale is used to determine if a person is hypermobile. This continues to be an important determinant for hypermobility. A 5/9 score in adults is needed in order to meet this requisite. However, because age has an effect on flexibility (ie with age, you tend to become stiffer), there is a Five Point Questionnaire that determines if there is a history of hypermobility. The five points are the following:

  • Can you now (or could you ever) place your hands flat on the floor without bending your knees?
  • Can you now (or could you ever) bend your thumb to touch your forearm?
  • As a child, did you amuse your friends by contorting your body into strange shapes or could you do a split?
  • As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
  • Did you consider yourself “double-jointed”?

If you answer yes to two or more questions, then you have met the criteria for hypermobility (with 80-85% sensitivity and 80-90% specificity).


The Beighton Scale and Five Point Questionnaire are the first part of three criteria that need to be met in order to qualify for the diagnosis of hEDS. This criterion also meets the diagnosis of hypermobility (you can have generalized joint hypermobility without a diagnosis of hEDS).


The second criterion has three parts (A, B, and C), of which two must be met to qualify. Part A is a series of 12 symptoms, of which five must be met in order to quality:

  • Unusually velvety skin
  • Mild skin hyperextensibility
  • Unexplained striae on back, groins, thighs, breast or abdomen in adolescents, men or prepubeteral women without a history of significant gain/loss or weight.
  • Bilateral piezogenic papules of the heel
  • Recurrent or multiple abdominal hernias (umbilical, inguinal, crural)
  • Atrophic scarring with papyraceous or meosideric scars
  • Pelvic floor, rectal and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical conditions.
  • Dental crowding or high or narrow palate
  • Arachnodactyly (fingers & toes, long and slender), Steinberg Sign (thumb beyond palm), Walker-Murdoch sign (thumb overlapping fifth finger around wrist)
  • Arm span to height ≥ 1.05
  • MVP
  • Aortic root dilation


Part B is a positive family history of one or more first degree relatives, independently meeting the criteria of hEDS.

Part C is musculoskeletal complaints; a patient must have at least one to qualify:

  • Daily musculoskeletal pain at least three months in two or more limbs
  • Chronic widespread pain for more than 3 months.
  • Recurrent joint dislocation or frank instability in the absence of trauma (A or B)
    • 3 or more atraumatic joint dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at two different times.
    • Medical confirmation of joint (2 or more) instability


The third criterion contains three pre-requisites, all of which must be met:

  1. Absence of unusual skin fragility which should prompt consideration of other types of EDS.
  2. Exclusion of other heritable and acquired connective tissue disorder with autoimmune connective tissue disorder (ie Lupus, RA).
  3. Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or CT laxity. Alternative diagnoses and diagnostic categories include, but not limited to, neuromuscular diseases, myopathic EDS, Bethlem myopathy, or HCTD (ie other types of EDS), Loeys-Dietz Syndrome (Marfan), and skeletal dysplasias (ie OI).



American Journal of Medical Genetics, Part C. (Seminars in Medical Genetics), March 2017.


Ehlers-Danlos (EDS)

It is known that physically active patients who have stiff muscles frequently develop pain.  What is less known is that patients with overly flexible joints will also frequently develop muscle pain.

Congenital diseases, such as Marfan Syndrome and Ehlers-Danlos Syndrome (EDS), may cause joints to repeatedly dislocate, resulting in stiffness in the muscles surrounding the joint – a way that the body attempts to help the unstable joint.  The reflexive stiffness and spasms in the muscles surrounding the unstable joint cause pain.

Treatment to relax the muscles such as injections into trigger points or into the muscle attachments may do too good a job – that is, if the muscles become too relaxed, the joint may become too loose and  continue to dislocate.

An alternative treatment we have used is low level laser therapy (LLLT).  LLLT uses light energy in a narrow wavelength (810-980nm) to deeply penetrate through the skin into the muscles and tendons.  LLLT produces an increase in chemicals in the body (Cytochrome C Oxidase) that enables the production of ATP (adenosine triphosphate) which can aid in healing damaged tissue. Using LLLT to reduce pain in EDS patients has resulted in ~40% decrease in pain lasting for 3-4 weeks (or even longer!) without making the underlying muscle too loose.

Read more about EDS HERE


The Start of Baseball Season

The baseball season just opened and already players are calling off their first few games due to “tweaked knees” and “sore backs”. As the sun is starting to come out, and the snow is (FINALLY!) melting, many of us are anxious to get outside and start playing sports again. However, this is also a time where pain can start rearing its ugly head. Many people forget to limber and stretch properly before AND after playing sports, causing strains and sprains of

So keep in mind these important tips to get moving again this spring:

  1. Do gentle limbering stretches every day to help maintain flexibility of your muscles.
  2. Stretch before and after any exercise.
  3. Start slowly – if you haven’t moved all winter, start with simple exercises, like walking, before starting anything more difficult.
  4. If you’re feeling extremely sore the following day, it means you may have done too much. Cut back on the difficulty and amount of time the next time you exercise. Slowly increase the difficulty and the length of the session. A safe rule of thumb is to start out after a long layoff at 50% of your prior routine and then increase 15-20% every 5-7 days as long as you feel okay at any level before going to the next.
  5. Drink lots of water!

Is access to your medical records a good thing?

More and more doctors are transferring their records to an electronic format. One electronic medical records software, OpenNotes, allows patients to view their medical records online as well. Does having this information mean better care for a patient?

The New York Times published an article about one patient, Steven Keating, who benefited from the ability of seeing his medical records. In fact, because of this, he was able to push his doctors to perform an MRI of his brain, which revealed a brain tumor the size of a tennis ball.

In other cases, having this unfiltered information may create unnedatacessary concern and anxiety. For example, if one of your blood levels isn’t within the “normal range,” what does this mean? Most people would probably run to their computer and search “abnormal blood level for _________” and get countless different possible diagnoses….most of them serious, and probably not related to your “abnormal” blood levels. Results of imaging studies, such as x-rays and MRIs may also appear to be serious when they are actually only reflecting the results of age and normal wear and tear.

Just having raw data and unfiltered notes is not generally useful and can be harmful. If you are going to get your notes, make sure to discuss your concerns regarding what you read with your physician.



The BMJ (what used to be called the British Medical Journal) just published an article stating that acetaminophen (ie Tylenol) has been found to provide no relief in low back pain (compared to a placebo). Acetaminophen was also related to a risk of having an abnormal liver test. The article included data from 13 randomized controlled trials (RCTs).

An RCT to evaluate a drug is a research study where one group of people receives the actual drug (in this case, acetaminophen) and the other group receives a placebo (a pill with no active ingredient, generally a sugar pill). Then, data is collected from both groups to see if either achieved any painTylenol relief. In this analysis, it shows that whether you receive acetaminophen or a sugar pill, you had the same amount of pain relief – meaning that active drug had no real pain relief effect.

Although most of the patients I see find no relief from acetaminophen, a small percentage of patients do, so don’t completely dismiss this drug when it comes to helping your pain. However, if you do take acetaminophen, make sure that you’re not taking too much. The FDA recommends taking less than 3000mg a day. This means if you’re taking Extra Strength Tylenol (500mg), you can only take 6 pills a day, or regular strength, 300mg, 10 pills a day. Higher amounts can lead to liver damage that could even be life-threatening.


Smoking and Back Pain – is it related?

We all know that smoking is bad for you. In fact, since 1965, the Surgeon General’s Warning posted on every package of cigarettes says: Smoking Causes Lung Cancer, Heart Disease, Emphysema, And May Complicate Pregnancy. But did you know that in addition to the myriad of illnesses that are related to tobacco and smoking, recent studies show that smokers have a higher prevalence of back pain than non-smokers? It’s true.

Several studies in the 1980s and 1990s have shown a correlation between smoking and increased back pain.  More recently, a smokingmeta-analysis was done in 2010, which basically means a large number of studies (in this case, 40) were put together, and the results were compared to see what pattern, if any, existed between back pain and smoking. This meta-analysis concluded that current and former smokers have a higher prevalence of back pain. It even made the comparison between adult smokers to adolescent smokers; adolescents showed a higher prevalence of back pain. Therefore, we can conclude, the earlier one smokes, the greater risk to your back.

Is there a technical or medical reason behind this connection? Indeed. Smoking causes constriction of blood vessels, which reduces the amount of blood going to your muscles. Decreased blood results in decreased oxygen, which is one of the most important factors in initiating muscle pain. Some smokers actually had parts of their arms and legs amputated because of dead tissue caused by too little oxygen.

Do you want be free of back pain? Put out that cigarette and quit smoking!


Spinal Surgery for Lumbar Stenosis

A recent study was published in the Journal of the American Medical Association, analyzing spinal surgeries done on Medicare patients who were diagnosed with lumbar stenosis.

Let’s rewind – what is lumbar stenosis? Lumbar refers to the lower part of the spine, where we would normally identify as low back. Stenosis refers to the narrowing of the bones in the spine, often pushing or compressing the nerves that being in the spinal cord and extend into your legs. Spinal stenosis is often associated with pain and numbness in the leg.

When a patient is diagnosed with lumbar spinal stenosis, a wide variety of treatments are offered. If the spinal stenosis is actually causing pain and difficulties functioning, such as walking, you would imagine that exercise and physical therapy would have little or no effect. However, pBack Painhysical therapy and exercise are frequently prescribed and may reduce symptoms. This means that at least some of the pain is from muscles and that the picture seen with the CT or MRI showing the nerves being compressed wasn’t accurately showing the reason for all the pain. Without a thorough examination of the muscles in the lower body, we may overlook an easily treated source of pain.

Overreliance on imaging studies can lead to unnecessary, costly, and sometimes damaging treatments, which may include various pain medications, injections (such as epidural injections), and surgery. When surgery is recommended, there are different complexities of surgeries that can be performed.

In this recent study, the surgeries were divided into three categories: 1. Decompression by itself (removing a small piece of bone from the spine to relieve pressure on the spinal cord or nerves), 2. Simple (only 1-2 levels) fusion (fusing the bones in the spine using metal and or bone that may be harvested from the hip or provided by a bone bank), or 3. Complex Fusion (more than 2 levels and/or anterior [front] and posterior [back] approach). From the years 2002 to 2007, the number of decompression and simple fusion surgeries decreased while the number of complex fusion surgeries increased 15-fold. With increasing complexity of the surgery, the odds for complications and rehospitalization significantly increase without a significant demonstrated improvement in outcomes.

We should all be concerned that the number of complex surgeries is increasing, causing more severe side effects and death. Hospital charges alone for a less complex surgery can cost around $23,000 while the complex surgeries may cost over $80,000.


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