This blog is a way of sharing the information and resources that have helped me to recover my son Roo from an Autism Spectrum Disorder. What I have learned is to view our symptoms as the results of underlying biological cause, which can be identified and healed. I say "our symptoms" because I also have a neuro-immune disorder called Myalgic Encephalomyelitis.

And, of course, I am not a doctor (although I have been known to impersonate one while doing imaginative play with my son)- this is just our story and information that has been helpful or interesting to us. I hope it is helpful and interesting to you!


Friday, October 28, 2016

Connections Between MCAS, EDS, Dysautonomia/POTS, and other Conditions

In this commentary piece by Dr Stephen Genuis MD, Pandemic of idiopathic multi-morbidity, he makes the argument that there is a relatively sudden increase in certain types of diseases, particularly allergic diseases.  He calls this condition "multi-morbidity" which simply refers to a patient with 2 or more chronic diseases or complaints.  He argues- as many have regarding autism- that a sudden and dramatic increase in a medical condition is not well explained by claiming that the condition is genetic, as genes don't change that quickly.  A sudden and dramatic increase in a disease implies an environmental influence.  He has noticed, as many others have, that some symptoms and diseases often appear together including headache, joint pain, fatigue, brain fog, bloating, chemical intolerance, muscle aches, itchy skin, abdominal discomfort, and fibromyalgia.

Dr Genuis confirms what many of us living with these symptoms already know- that many, if not most doctors do not believe that this constellation of symptoms is caused by physiological illness, but rather is a psychiatric somatic illness requiring anti-depressants for therapy.  In his attempts to uncover a common physiological explanation, he says "A foray into the recesses of the scientific literature reveals discussion of a condition called sensitivity-related illness (SRI), with description of a credible causal mechanism to account for much of the emerging pandemic of multisystem health problems. This condition results when toxicant accrual within the human organism— typically from exposure to adverse chemicals—induces a state of immune dysregulation and hypersensitivity resulting in physiological disruption within various organ systems. The pathogenesis relates to an intriguing phenomenon called toxicant-induced loss of tolerance, a finding that represents a considerable advance in medical science pertaining to the origins and mechanisms of disease."

It seems that more and more doctors and researchers have begun paying attention to the co-morbidity of diseases and symptoms such as Mast Cell Disease (MCAD), Eosinophilic diseases (EGIDs and HES), other digestive disorders and symptoms, allergy and other forms of atopy such as eczema, migraines and other headaches, Ehlers-Danlos Syndrome (EDS) and other joint and connective tissue symptoms and disorders, psychiatric symptoms such as ADHD, OCD, panic disorders, and anxiety, neurological and neurodevelopmental disorders including autism and seizures, as well as many others.  In particular, the three disorders of EDS, MCAS, and Dysautonomia (usually POTS) occur together so often that they are sometimes referred to as "the trifecta".

Unifying Theories:
Researchers identify new spectrum disorder called ALPIM syndrome
"Panic disorder itself may be a predictor for a number of physical conditions previously considered unrelated to mental conditions, and for which there may be no or few biological markers," explains Dr. Coplan.  In the study, published in the Journal of Neuropsychiatry and Clinical Neurosciences, the researchers proposed the existence of a spectrum syndrome comprising a core anxiety disorder and four related domains, for which they have coined the term ALPIM."  These are: A = Anxiety disorder (mostly panic disorder); L = Ligamentous laxity (joint hypermobility syndrome, scoliosis, double-jointedness, mitral valve prolapse, easy bruising); P = Pain (fibromyalgia, migraine and chronic daily headache, irritable bowel syndrome, prostatitis/cystitis); I = Immune disorders (hypothyroidism, asthma, nasal allergies, chronic fatigue syndrome); and M = Mood disorders (major depression, Bipolar II and Bipolar III disorder, tachyphylaxis. Two thirds of patients in the study with mood disorder had diagnosable bipolar disorder and most of those patients had lost response to antidepressants).

Dr Meglathery, herself a patient with this combination of diagnoses, has developed a theory called The RCCX Theory that argues for an underlying genetic connection between these conditions.
Dr Diana Driscoll has developed a theory she calls The Driscoll Theory that connects POTS, MCAS and EDS, and ties in some of the other symptoms/issues as well (including cranial hypertension).  She also has a number of videos on her site that explain the connections in more detail.

The blogger over at Oh Twist describes in a post called The Chronic Constellation the list of disorders that so many of us as patients have noticed.  She also includes mitochondrial diseases, autism spectrum disorders, and many autoimmune diseases in this cluster of disorders.

Scientific Papers Documenting Connections and Comorbidities:
MCAS (a common underlying cause of ME/CFS), Allergy, and Atopic Diseases
A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome
"15 participants completed questionnaires with required documentation. All eligible participants were female. 12 of these people had formal diagnoses of POTS (80%), 9 were diagnosed with both POTS and EDS. 6 of 9 patients with both POTS and EDS had validated symptoms of a mast cell disorder (66%), suggestive of MCAS."
 
The Suggested Relationships Between Common GI Symptoms and Joint Hypermobility, POTS, and MCAS
“An increasing number of reports suggest an association between a newly recognized disease cluster and significant and often disabling gastrointestinal (GI) symptoms. This cluster is composed of diagnoses of hypermobility spectrum disorders (HSDs) such as joint hypermobility and hypermobile variant Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS)... This article describes a cohort of young adult females who shared similar GI symptoms, with intractable nausea and vomiting being most prominent and gastroesophageal reflux disease and constipation also occurring. Most strikingly, these females also exhibited or reported a history of HSD, hEDS, POTS, and/or MCAS. The clinical course of their GI symptoms was remarkable for considerable challenges in management, and artificial nutritional support proved necessary for some. This article describes the clinical features and outcomes of their GI manifestations, examines how these manifestations might be linked to their systemic syndromes, and discusses whether a shared pathophysiology exists..”

Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature
"Aberrant mast cell activation has been shown to play a role in disruption of connective tissue integrity through activity of its mediators including histamine and tryptase which affects multiple organ systems resulting in mast cell activation disorders (MCAD). The overlap of findings associated with MCAD and the immune-mediated and rheumatologic conditions in patients with hEDS/HSD may provide an explanation for the relationship among these conditions and the presence of chronic inflammatory processes in these patients. It is clear that a multidisciplinary approach is required for the treatment of patients with EDS. However, it is also important for clinicians to consider the summarized symptoms and MCAD-associated characteristics in patients with multiple complaints as possible manifestations of connective tissue disorders, in order to potentially aid in establishing an early diagnosis of EDS."
 
 
 
Dysautonomia, Hypermobility Spectrum Disorders and Mast Cell Activation Syndrome as Migraine Comorbidities 
“Numerous studies indicate a significant overlap and shared pathophysiology in migraine, dysautonomia, HSD, and MCAS. In clinical setting, dysautonomia, HSD, and MCAS may present a diagnostic and therapeutic challenge in patients with migraine and require a high index of suspicion on the part of the neurologist. Diagnosis and treatment of these complex disorders in patients with migraine is essential to comprehensive patient-centric care, reduced symptom burden, and improved functional impairment secondary to both migraine and comorbidities.”

 
 
 
 
 
Psychiatric disorders and symptoms severity in preschool children with cow's milk allergy.

Association of atopic diseases and attention-deficit/hyperactivity disorder: A systematic review and meta-analyses.
 
 
[Severe Mast Cell Activation Syndrome in a 15-year-old patient with an hypermobile Ehlers-Danlos syndrome]
"We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS)...  We describe the MCAS and its easy, fast and very effective medication management, without any significant side effects as well as its frequent association with the hEDS. We finally introduce the original term of «MASED» to this MCAS, associated, linked or entangled to hEDS."  

Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder
"The presence of MCAD and Ig Def should be explored in patients with hEDS/HSD. Identifying underlying contributors to recurrent/chronic inflammation and tissue injury is needed to tailor and personalize therapies. This, in turn, can reduce tissue damage, iatrogenic intervention, and optimize health outcomes."
 
EDS (Ehlers-Danlos Syndrome) and Other Connective Tissue Disorders
 
Some cases of hypermobile Ehlers-Danlos syndrome may be rooted in mast cell activation syndrome
"Although hEDS is seen in only a minority of MCAS cases, limited studies have identified an association between hEDS and MCAS, fueling speculation that certain variants of MCAS may drive hEDS. No laboratory studies probing cellular or molecular linkages between hEDS and MCAS have been conducted yet, and research efforts to identify the genetic roots of hEDS should also consider those of MCAS." 

Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome
"Recent studies have linked hEDS with mast cell activation syndrome (MCAS), suggesting a genetic interplay affecting immune regulation and infection susceptibility. This study aims to decode the genetic basis of mast cell hypersensitivity and increased infection risk in hEDS by identifying specific genetic variants associated with these conditions."
 
A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder
“This study confirms the high rate and heterogeneity of abnormal autonomic regulation in hEDS/HSD, and suggests the baroreflex sensitivity might distinguish comorbid POTS from other profiles in this subgroup of patients. Abnormal autonomic regulation is common in adults with hEDS/HSD and should be regularly assessed for tailoring the management approach.”
 
 
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know
"Hypermobile Ehlers-Danlos syndrome (hEDS) and the hypermobility spectrum disorders (HSD) can be challenging to diagnose and manage. Gastrointestinal symptoms and disorders of gut-brain interaction are common in this cohort and multifactorial in origin. The primary aim of this review is to arm the gastroenterologist with a clinically useful understanding of HSD/hEDS, by exploring the association of gastrointestinal disorders with HSD/hEDS, highlighting current pathophysiological understanding and providing a pragmatic approach to managing these patients."
 
 
Sleep research in autism and connective tissue

Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls.

[Fibromyalgia: an unrecognized Ehlers-Danlos syndrome hypermobile type?].

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Eosinophilic gastrointestinal disorders associated with autoimmune connective tissue disease.

Dysautonomia and POTS (Postural Orthostatic Tachycardia Syndrome)
Gastrointestinal symptoms associated with orthostatic intolerance.

Symptom overlap and comorbidity of irritable bowel syndrome with other conditions.

Characterizing Gulf War Illnesses: neurally mediated hypotension and postural tachycardia syndrome.

Neurally mediated hypotension and chronic fatigue syndrome.

Eosinophilic and Other GI Disorders
Psychological Functioning of Children and Adolescents With Eosinophil-Associated Gastrointestinal Disorders

Miscellaneous
New study shows severity of tinnitus (ringing in the ears) is related to emotional processing


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