Postural Orthostatic Tachycardia Syndrome
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Research

At POTS Care, the evaluation of POTS and chronic fatigue focuses on locating and treating the underlying conditions causing symptoms. Without locating these conditions, patients can be left with symptomatic treatments that are only marginally helpful and may be harmful in the long run. The evaluation and treatment of POTS and chronic fatigue is based on the research of Genetic Disease Investigators formed to formally study these conditions. Genetic Disease Investigators and Dr. Diana Driscoll, President, were the first to reveal hidden abnormalities in many patients such as: – intracranial pressure problems – vagus nerve anomalies – the activation of histamine- producing cells (not restricted to mast cell activation or MCAS) – vascular anomalies – joint hypermobility or Ehlers Danlos syndrome in conjunction with the above The following are some of the studies performed by Genetic Disease Investigators, whose results helped guide the paradigm shift in the evaluation and treatment of POTS offered at POTS Care:

Clinical Trial: Status: Completed

“Vascular fundus changes in patients with high probability of chronic cerebrospinal venous insufficiency” Presented February 2012- International Society of Neurovascular Disease. June 2012- Optometry’s Meeting This study included co-authors Dr. Clair Francomano, Dr. Rich Driscoll and Dr. Diana Driscoll and involved the evaluation of 60 fundus images of patients with EDS/POTS or multiple sclerosis, as compared to age-matched normals. The vascular abnormalities found allowed a “blinded” doctor to correctly identify patients with EDS/POTS with 90% accuracy. The search for answers then shifted to the cause of these anomalies.  

Clinical Study: Status: Completed

“Acetazolomide as a medical treatment option for patients with neurodegenerative disease” Presented February 2012 — International Society of Neurovascular Disease This study, co-authored by Dr. William Code and Dr. Diana Driscoll, revealed the improvement of symptoms of headache, poor sleep, fatigue and cognition in patients with multiple sclerosis with the use of acetazolamide. Although likely multifactorial, undiagnosed idiopathic intraocular hypertension as a likely cause of symptoms turned research efforts toward the cause of this abnormally high intracranial pressure.  

Clinical Study: Status: Completed, Awaiting Publication (NCT 01367977)

“Head circumference growth in children with Ehlers-Danlos syndrome who developed dysautonomia later in life” Preliminary results of this study revealed abnormally fast growth of head circumferences (as opposed to the lengths and weights) in babies who were later diagnosed with EDS/POTS. Enlarged head circumferences as found by this study hinted at, yet could not prove, the presence of high intraocular pressure in these children. Many of these children were not well and many suffered from an array of neurological symptoms such as seizures, epilepsy, cataplexy, and narcolepsy. Attention then turned to the role of idiopathic intraocular hypertension in both children and adults with EDS/POTS.

Research Study: Status: Completed

“Cardiac effects in the multiple sclerosis patient” Presented February 2012: International Society Neurovascular Disease This study, co-authored by Dr. Clair Francomano and Dr. Diana Driscoll, began the study of the potential role of inflammatory cytokines in the development of left ventricular diastolic dysfunction typically found in both multiple sclerosis and Ehlers-Danlos syndrome patients. By evaluating similarities and differences in these conditions, proposed etiologies were revealed.  

Research Study: Status: Completed

“Inflammatory cytokines in patients with EDS/POTS” An in-house study of inflammatory cytokines in EDS/POTS patients revealed the involvement of inflammation in many of these patients, dramatically altering the approach to evaluation and treatment.

Research Study: Status: Completed

“Evaluation of lipo(a) in patients with vascular fibrosis and EDS/POTS” An in-house study of six patients with EDS/POTS and vascular fibrosis run to find out if abnormal lipo(a) was the cause of their vascular abnormalities. Normal levels were found, so research quickly moved in other directions.

Research Study: Status: Completed

“Evaluation of potential IIHWOP in patients with EDS/POTS and treatments with acetazolamide, if indicated” An in-house study of 21 patients with EDS/POTS, studying the potential involvement of IIHWOP (Idiopathic Intracranial Hypertension Without Papilledema), and the effect of acetazolamide on symptoms.

Research Studies: Status: Completed

In-house studies of 165 symptoms/signs of these invisible illnesses was conducted to look for commonalities and differences in presentations that would lead to clues as to their etiology. “EDS/POTS: evaluation of 165 symptoms and signs” “Chronic Fatigue Syndrome: evaluation of 165 symptoms and signs” “Chronic Lyme Disease: evaluation of 165 symptoms and signs”

What is an “in-house” study?

In order to get answers quickly with the lowest costs possible, in-house studies can be performed without the involvement of grant applications and International Review Board approval. The self-funded studies only involve observations or low-risk treatments –never treatments involving medications not already deemed safe by the FDA. In many cases, numerous participating patients were also physicians who understand the risks and benefits of these types of low-cost studies.