MEGLATHERY MD: RCCX MAY EXPLAIN OVERLAPPING SYNDROMES ASSOCIATED WITH CHRONIC ILLNESS (EDS-HT, CFS, FM, LYME, MCAS, POTS, PAIN, PSYCHIATRIC SPECTRUM, IMMUNOLOGICAL, ENDOCRINE ISSUES). NEUROPSYCHIATRIC MARKER, CAPS, PREDICTS RISK.
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Sharon Meglathery MD: Pathophysiology Diagrams:
Diagram I: RCCX Theory Part I: CYP21A2 Mutations Cause 21hydroxylase Overwhelm: may be the genetic diathesis of the stress-diathesis model for psychiatric and chronic medical illness (chronic fatigue syndrome (CFS), myalgic encephalitis (ME), fibromyalgia (FM), mast cell activation syndrome (MCAS), postural orthostatic tachycardia syndrome (POTS), pain syndromes, immune system dysregulation, CYP21A2 associated neuropsychiatric spectrum (CAPS) associated with autistic features/attentional disorders/anxiety and predisposed for the development of mood disorders, psychosis (with MCAS) and schizophrenia (with co-inherited C4) Diagram II: CYP21A2 Mutations Perpetuate Chronic Illness: CYP21A2 mutations wire the brain for danger and due to the enhanced stress response and 21hydroxylase limitations, create a stress vulnerable individual who develops all of the illness displayed in the first diagram. All of this illness increases stress on the body, producing more exaggerated stress responses and less ability of the limited amount of 21hydroxylase to make cortisol, making this a self-perpetuating problem. | ||||
These relate to the overlapping symptoms of patients with the following (see Background and Theory For Patients):
- Ehlers-Danlos Syndrome, Hypermobility Type (EDS-HT)
- Chronic fatigue Syndrome (CFS)/Myalgic Encephalitis (ME)
- Fibromyalgia (FM)
- Chronic Lyme Disease, Gulf War Syndrome, Toxic Mold/Biologic Illness
- Mast Cell Activation Syndrome (MCAS): histamine intolerance, migraines, diarrhea, sinus pain, burning eyes, syncope, distractibility, brain fog, irritability, interstitial cystitis, hyper-adrenergic POTS, etc., depending on location of the mast cells
- Postural Orthostatic Tachycardia (POTS)/Dysautonomia/Orthostatic Intolerance/Low Blood volume
- Pain Syndromes: Neuropathic Pain Syndromes/Chronic Regional Pain Syndrome/Myofascial Pain Disorder/Frequent Dislocations/Dysmenorrhea/Chronic Headache/Migraines/Interstitial Cystitis/Vulvodynia/Temporomandibular Joint Disorder (TMJ)
- GI Syndromes: Irritable Bowel Syndrome/Cyclical Vomiting/Gastroparesis/Food Intolerance/Gut dysbiosis/Candida overgrowth/Leaky Gut Syndromes, Malabsorption Syndromes
- Raised Intracranial Pressure Conditions: Pseudotumor Cerebri/Benign Intracranial Hypertension/Posterior Reversible Encephalopathy/Acquired Chiari Malformation
- Neurological Issues: Neuropathies/Pain Syndromes/Uncoordinated Swallow/Vertigo/Central Apnea/Sleep Paralysis/Dysautonomia/Seizure-Like Episodes/Dystonia/Narcolepsy
- Mitochondrial Disorders
- Immune Dysregulation: Combined Variable Immunodeficiency (CVID)/IgA deficiency/fungal infections/recurrent HSV infections/no colds for years, severe bacterial infections, inability to clear strep/Epstein Barr/mycoplasma/chlamydia/candida, dysbiosis, small intestinal bacterial overgrowth, multiple sclerosis (MS), autoimmune disorders-classic and non classic, i.e. mixed connective tissue disorders/eosinophilic disorders, high TGF beta/inflammatory conditions, Chronic Inflammatory Response Syndrome (CIRS)
- Psychiatric Issues: Psychiatric Conditions due to Dysautonomia (Panic/Anxiety)/ADD/Hyperfocus/Autistic Wiring/Sensory Processing Disorders/Psychosis/Schizophrenia/Chronic Illness: Stress and Loss/PTSD/Mood Disorders (Bipolar/Unipolar)/Chronic Insomnia/Restless Leg Syndrome/Brain Anatomic Abnormalities (big Amygdalae-fear and emotional center; small anterior cingulate; chiari malformation, hydrocephalus)
- Hormonal Disorders: sex hormone disorders-cystic ovaries, acne, water +/- fat associated weight gain, breast and tissue swelling, fertility issues, hot flashes/night sweats; adrenal gland issues: adrenal fatigue, Addison's, high/low cortisol, low aldosterone; pituitary hormone abnormalities-ACTH, TSH mediated thyroid disorders; autoimmune hormonal issues, etc...
- GU/Renal Issues: Fibromuscular Dysplasia, Diabetes Insipidus, Interstitial Cystitis
- Misc.: Extreme temperature dysregulation (dysautonomia or not), Multiple Chemical Sensitivity, High adrenaline/noradrenaline (also called norepinephrine) states, Erythromyalalgia, Raynaud's, Livedo Reticularis, Evidence of Poor connective tissue integrity (dislocations, bruising, bleeding, petechaie, etc), Dry eyes, Tinnitis
CONTACT INFORMATION:
Sharon Meglathery MD
Email: [email protected]
FACEBOOK: Page: RCCX and Chronic Illness; Discussion Group: RCCX and Chronic Illness Discussion
Office: Sharon Meglathery MD, 1661 North Swan Road, Suite 102, Tucson, AZ 85712
Sharon Meglathery MD
Email: [email protected]
FACEBOOK: Page: RCCX and Chronic Illness; Discussion Group: RCCX and Chronic Illness Discussion
Office: Sharon Meglathery MD, 1661 North Swan Road, Suite 102, Tucson, AZ 85712