This webinar describes an increasingly recognized group of patients who appear to have a combination of genetic vulnerability for chronic inflammation, such as might occur from chronic environmental toxin exposure, that leads to activation of mast cells that hinders connective tissue integrity, such as that seen in Ehlers-Danlos syndrome, and the development of hypermobile-instability in the craniofacio-cervical region. A cascade of events occurs from both the mast cell activation and unstable craniofacio-cervical structures that causes dysautonomia, presenting with Postural Orthostatic Tachycardia Syndrome (POTS) with sympathetic overdrive. When this is coupled with enhanced obstruction of the upper airway, such as in obstructive sleep apnea or the Upper Airway Resistance, it leads to a large differential between daytime and nighttime blood carbon dioxide levels that cause an exaggerated increase in nighttime cerebral blood flow requiring rapid displacement of cerebrospinal fluid (CSF) during sleep. The unstable anatomy at the craniofacio-cervical junction also hinders normal CSF and lymphatic drainage, impedes jugular venous flow and thereby causing an increase in intracranial pressure (the Spiky Phase). CSF pressure along with deficient stability within the cranial nerve sheaths, most notably through the olfactory nerve, leads to seepage of CSF into the sinus mucosa and into facial sinuses, whereby it leaks out through the nose and ears, into facial tissue, or down the throat (the Leaky Phase).  We call this Spiky-Leaky Syndrome, and it may explain the vast collection of signs and symptoms co-segregating in these patients and also such other phenomena as pseudotumor cerebri and idiopathic intracranial hypertension without papilledema. The lecture details data and theory as to why this has been difficult to detect to date as well as potential environmental toxins that may be responsible. Affected patients fall within an overlapping spectrum consisting of Ehlers-Danlos syndrome, POTS, Mast cell disorder, Narcolepsy and OSA / Upper Airway Resistance Syndrome.  This lecture puts a perspective is this difficult clinical group of patients that can lead to enhanced therapeutic approaches.

Dr. Maxwell is a Board Certified Pediatric Cardiologist and Pediatrician. He received his medical degree from Johns Hopkins Medical School followed by a Residency in Pediatrics at The University of California at San Francisco and Fellowships in Pediatric Cardiology at Lucile Packard Children’s and Stanford Hospitals and in Thoracic Organ Transplantation at Children’s Hospital of Philadelphia. He established his own private practice, Heart of the Valley Pediatric Cardiology, in 2001. His research interests include study of endothelial control of vasomotor tone, nitric oxide, pulmonary hypotension, sports cardiology, dysautonomia, Ehlers-Danlos, and Mast Cell Activation Syndromes. For this work, he received an American Heart Association Bugher Award for Research in Molecular Biology and was an American College of Cardiology Young Investigator Award finalist. He has published many articles and book chapters and gives national and international presentations on these subjects.

1 CE credit available to AAPMD members