Follow @beeheron Ehlers-Danlos Syndrome and Autism Reading time: 8 minutes 15 seconds Summary A 2018 study found that a certain type of connective tissue cell called a myofibroblast was found in high quantities in the skin of people with hypermobility type EDS (hEDS), but not in other types of EDS. This cell is induced by inflammation and also by mast cells and has certain properties that could give rise to joint laxity. hEDS is also linked to a markedly increased risk of autism.  Read on for links between these two conditions. Autism & hEDS The geneticist who diagnosed me with hypermobility type Ehlers-Danlos Syndrome (hEDS) happened to help collect DNA for genetic research.  He supplied DNA samples for research into the origin of hEDS but also saw many autistic pediatric patients and collected samples from them for separate research into autism. He casually mentioned that many of his autistic pediatric patients had parents with hypermobile joints and many adults he diagnosed with hEDS had children with autism. Indeed, a 2016 study published by Swedish and American researchers estimated that people with hEDS had 7.4 times the risk of being autistic.  In my family, we have many people who function well in many respects and are successful with their work, but who also have autistic traits. Hypermobility is rife on both sides of my family. The Broad Autism Phenotype The broad autism phenotype or BAP encompasses the idea that people, especially family members of autistic people, may themselves have milder autistic traits. This mild version of autism is also known as an intermediate phenotype.  In one study, parents of autistic children were assessed for six personality traits: aloof, anxious, hypersensitive, overly conscientious, rigid, and untactful. These [...]

Follow @beeheron Low Blood Volume, ME/CFS and Slow, Chronic Sepsis Summary A very common cause of sepsis is the leakage of bacteria into the blood from the gut. ME/CFS patients have signs of leakage of bacteria from the gut into the blood and our illness looks a lot like sepsis. Low blood volume and mast cell activation may have everything to do with this process. Reading Time: 2 min 27 sec Previous Article: Mast Cell Activation Syndrome & Low Blood Volume In a 2018 paper, Dr. Maureen Hanson’s group conducted a study on microbiota and ME/CFS patients.  The microbiota is the collection of microorganisms that live in the gut. Hanson’s team found that a substance called LPS was significantly elevated in the blood of patients. LPS is a substance from the cell walls of certain bacteria.  LPS becomes elevated in the blood when there is an increased permeability or leakiness of the intestines. Other researchers have had similar findings with regard to LPS and ME/CFS patients. Dr. David Bell, a longtime ME/CFS physician and member of the Open Medicine Foundation has compared ME/CFS to a slow, chronic version of sepsis.  The commonalities between these two conditions include low blood pressure, low blood volume, a loss of energy production at the cellular level, and widespread inflammation. LPS, from either a bacterial infection or a damaged or leaky gut, is the most common cause of sepsis, a body-wide inflammatory disorder that kills 40% of its victims. LPS is a powerful trigger of inflammation and, because it spreads through the blood, it can cause inflammation all through body. At the most recent Open Medicine Foundation Symposium, Dr. Bell’s book on this subject was held up in front of the audience and the speaker said essentially that [...]

Follow @Beeheron Mast Cell Activation Syndrome & Low Blood Volume Summary Two symptoms occur frequently in people with ME/CFS: Mast Cell Activation Syndrome (MCAS) and low blood volume. What if these are not coincidental? Reading time: 4 minutes 27 seconds People with ME/CFS have less blood than we should. We have low blood volume. We also tend to have a condition called mast cell activation syndrome or MCAS. I think these may not be two separate events. I think they may be closely linked. MCAS stands for mast cell activation syndrome. Mast cells act as sentinels that detect injuries, infectious agents, decrements in blood supply or other changes in the body. They are early or first responders to many potentially dangerous situations. In MCAS, mast cells become hypersensitive and chronically active.  Somehow they start to identify innocuous things like common foods, hot weather, smells, normally safe chemicals or even sunlight as dangerous. Chronically activated mast cells are a problem because mast cells release a roster of bad actors that would make anyone feel sick. In my experience, my MCAS is inseparable from my ME/CFS because reactions to foods reliably provoke all of my ME/CFS symptoms. When I got ME/CFS as a teenager, I got MCAS. If doctors had known what they were looking for, I would have immediately been identified as an MCAS patient. I flushed hot all the time in my face and ears and started getting hives like giant mosquito bites on my face. This happened every time I ate, for hours afterwards, every day. When I developed ME/CFS, I also developed disturbingly low blood pressure and had trouble holding myself upright for any length of time. This is called orthostatic intolerance. Recent research has shown that while ME/CFS patients overall tend [...]

Follow @beeheron Shock, Hypoxia & ME/CFS: Part II Summary Numerous lines of evidence implicate problems with blood flow or oxygen delivery in ME/CFS. HIF-1 is the master regulator of the body's response to diminished oxygen delivery and is upregulated under low oxygen conditions. HIF-1 downregulates mitochondrial energy production and upregulates glycolysis in an effort to protect cells from the adverse effects of oxygen deficit. In a chronic low oxygen state, chronically elevated HIF-1 could account for a low metabolic state resembling hibernation, could account for “deconditioning” and could account for post-exertional malaise (PEM). We will take a look at models of chronically elevated HIF-1 as well as genetically reduced levels of HIF-1. In addition, chronically elevated HIF-1 could potentially be related to increased rates of cancer and autoimmunity in ME/CFS. Ron Tompkins, HIF-1 and Trauma Dr. Ron Tompkins, MD, ScD, is one of our researchers on the scientific advisory board of the Open Medicine Foundation (OMF). He is chief of the Trauma, Burns and Surgical Critical Care Service at the Massachusetts General Hospital, chief of staff at the Shriners Hospitals for Children in Boston and a professor of surgery at Harvard Medical School.  We are so incredibly blessed to have people like Dr. Tompkins working to find answers for ME/CFS patients. Dr. Tompkins specializes in finding new ways to treat patients who have suffered burns and major injuries. These critical injuries are collectively known as trauma. Interestingly, he thinks there may be a connection between trauma and ME/CFS. On his OMF page, it says: “There seems to be a relationship between trauma and ME/CFS, possibly being triggered by or putting the body into a constant state of trauma.” This is an interesting statement because trauma involves bodily injury, but also involves circulation problems [...]

Follow @beeheron Shock, Hypoxia & ME/CFS: Part I When I first got sick with ME/CFS, I was a teenager. I was quite baffled when I suddenly became too exhausted to make it to classes, stopped sleeping almost entirely and started sweating profusely. I sweat raindrops: huge drops of sweat rolled down my sides constantly. No antiperspirant was a match for the sheer quantity of sweat I suddenly began producing. I became pale and weak and developed extreme anxiety, a rapid heartbeat and a feeling that I needed to breathe more. These are weird symptoms and I want to talk about how much they look like a condition called shock, especially given the similarities between ME/CFS and sepsis that we have talked about in recent blog posts. What Is Shock? According to Wikipedia, “Shock is the state of not enough blood flow to the tissues of the body as a result of problems with the circulatory system.” Symptoms of shock include palor, fast heart rate, fast breathing, weakness, anxiety, sweating increased thirst and confusion. This encompasses a lot of how I felt when I first became very ill. The lack of blood flow to the body causes the body to orchestrate an emergency response to try to get blood flow restored at least to the most vital areas of the body. The symptoms of shock arise from a combination of the blood delivery problem itself and our physiological response to that problem. In shock, adrenaline and other stress hormones are released to close off blood flow to less important areas of the body, like the skin and muscles, and redirect it to the heart and the brain, the most important parts. Adrenaline is our hormone of panic. Adrenaline stimulates the body’s “fight or flight” [...]

Follow @beeheron Part II: ME/CFS, Sepsis and Glycocalyx Summary To recap from the previous blog post "Part I: Blood Flow in Sepsis & ME/CFS", ME/CFS looks like a lot like sepsis and sepsis is an inflammatory illness of blood vessels. The blood vessel problems in sepsis interfere with oxygen delivery to cells.   The particular kind of blood flow problem that you find in sepsis is often described as “heterogeneous perfusion.” In heterogeneous perfusion, blood flow is normal through some capillaries, but in neighboring capillaries, blood flow might be slowed or stopped. In both ME/CFS and sepsis, we say that there is a problem with “oxygen extraction.” Cells have trouble accessing and using oxygen from the blood to make energy. Heterogeneous perfusion is known to cause problems with oxygen extraction. Glycocalyx, an important material that lines the inside of blood vessels, is destroyed during sepsis and destruction of glycocalyx leads to heterogeneous perfusion. The loss of glycocalyx might unite seemingly disparate aspects of chronic fatigue syndrome, like the fact that the illness seems to have so many different causes. There may also be an intersection between mast cell activation syndrome and glycocalyx. Glycocalyx loss could shed light on the connection between low blood volume and ME/CFS. Go To > Part I: Blood Flow In Sepsis & ME/CFS Glycocalyx A material called glycocalyx that lines the interior of blood vessels is extremely important for preventing heterogeneous perfusion. Glycocalyx is lost because of inflammation during sepsis and its loss is directly related to problems with capillary function that you find in sepsis. Glycocalyx is a fuzzy, loose, jelly-like substance. For a long time, until imaging techniques improved, we had no idea that glycocalyx took up so much space inside blood vessels. When we saw how much [...]

Follow @beeheron Part I: Blood Flow in Sepsis & ME/CFS Summary A blood flow pattern known as heterogeneous perfusion is found in sepsis. ME/CFS bears a striking resemblance to sepsis. We share peculiar problems with low blood volume, low blood pressure and trouble with pulling oxygen out of the blood to use as energy. Could correcting this pattern of blood flow lead to treatments for ME/CFS patients? ME/CFS looks like a slow, chronic sepsis, says Dr. David Bell, a longtime ME/CFS physician.  He made this observation after decades of treating patients. At this year’s Open Medicine Foundation symposium for ME/CFS patients, carers and researchers, one of the scientists who spoke held up Dr. Bell’s book and indicated that Dr. Bell was really onto something. Sepsis is a dangerous illness that occurs after a huge inflammatory response to a bacterial infection. Forty percent of people with sepsis die.  We ME/CFS patients don’t often die of our illness, but in other respects, we look strangely similar to sepsis patients. Like sepsis patients, we tend to have remarkably low blood volume, which means that the total amount of blood we have in circulation is low.1,2 This is a weird symptom not found in very many illnesses. Along with low blood volume, we also tend to have very low blood pressure, just like sepsis patients. My blood pressure often hovers around 84/54, a level of blood pressure you might find in a septic patient. ME/CFS, like sepsis, often starts with an infection, though this can be bacterial, viral or possibly parasitic. We used to think that people died of sepsis because of the huge inflammatory response.  This is correct, but more specifically, people die of sepsis because this huge inflammatory response causes damage to blood vessels [...]

On Autism & Chronic Fatigue Syndrome When I was in second grade, a little girl started calling me Weird One. I was elated. I felt that I had been knighted with some sort of public identity and it felt wonderful. I felt as though I belonged in some way and I hardly ever felt as though I belonged at all. That same year, classmates pointed out to me that I stood strangely.  I had no idea.  Looking down at myself, I realized that my hands were drawn up as if holding dangling dust rags, poised to begin cleaning the house. Knees bent backward, stomach poking out much more than normal for an eight-year-old, more like a two-year-old. I had no idea my posture was this awkward until another child pointed it out to me. I made a point of monitoring my posture from then onward. The year before, as a first grader, I couldn’t understand the game played the entire year where all the little boys and girls pretended they were boyfriend and girlfriend, a merry-go-round of who was currently “going out” with whom. I took stock of the situation quite seriously and determined that I was not actually romantically attracted to any of the boys.  I decided therefore that I must be gay, barely knowing what gay was, but knowing it had something to do with not being attracted to the opposite sex. It’s not that I was gay; I grew up to marry a man. But I couldn’t naturally understand the games that other kids played any more than I would naturally have been aware of standing abnormally. My parents pushed me to call other children on the phone to arrange play dates, but I was terrified. I was happy enough playing by myself, working on intricate [...]