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EDS, Autonomic Dysfunction and MCAS Info Miguel Trevino, MD Internal Medicine Ehlers-Danlos Syndromes Are a Clinical Subtype of Characterized by: Connective Tissue Disorders Joint Hypermobility (joints They can be inherited and are that stretch further than varied in: normal) • How they affect the body Skin Hyper Extensibility (skin • In their genetic causes that can be stretched further than normal) Tissue Fragility, Easy Bruising Generalized Joint Hypermobility A B C • Five or more of the • Positive family history • Pain in two or more following: • In first-degree extremities The 2017 International • Soft velvety skin relatives diagnosed • For three + month with these criteria Diagnostic Criteria for • Skin hyper extensibility • Recurrent joint hEDS have: dislocations • Striae (stretch marks ) • Atraumatic joint • Piezogenic heel papules Three Criteria (A,B,C) instability • Hernias • Atrophic scarring • Prolapse of pelvic floor ALL of which MUST be • Rectum or uterus present: • Dental crowding and high palate • Arachnodactyly (long, slender fingers) • Arm-span-to-height ratio >1.05 • Mitral valve prolapse or aortic root dilatation Evaluation of HSD There are NO Diagnostic Laboratory Tests for HSD The Beighton Score is a Screening Technique for hypermobility Used to Evaluate/Assess the Range Of Movement in some joints Joint Hypermobility or Laxity is the Hallmark of most types of EDS Beighton Hypermobility Scale is widely used The following maneuvers are performed: Flexion of waist with Passive dorsiflexion palms on the floor of the fifth finger (and with the knees >90 degrees with fully extended) forearm flat Passive apposition Hyper extensibility of the thumb to the of the knee >10 flexor aspect of the degrees forearm Hyperextension of elbow >10 degrees • Assessed in the context of Age and Sex Beighton Scores Matched Norms Scores which • ≥6 in children identify - • ≥5 in adolescents and younger adults Generalized Joint • ≥4 in adults aged 50+ years Hypermobility: According to an • Fail to identify Males with unusually Analysis Of high levels of joint hypermobility Population Data the use of these • Over-diagnose young females as definitions may: having joint hypermobility Not a perfect tool! Clinical Subtypes: • Classical EDS (cEDS) Ehlers-Danlos • Classical-like EDS (clEDS) • Cardiac-valvular EDS (cvEDS) Syndromes • Vascular EDS (vEDS) • Hypermobile EDS (hEDS) • Arthrochalasia EDS (aEDS) 2017 • Dermatosparaxis EDS (dEDS) • Kyphoscoliotic EDS (kEDS) International • Brittle cornea syndrome (BCS) • Spondylodysplastic EDS (spEDS) Classification • Musculocontractural EDS (mcEDS) • Myopathic EDS (mEDS) • Periodontal EDS (pEDS) HSD/old JHD Hypermobile Spectrum Disorder • Most common disorder among Hereditary Disorders of connective tissue Note: Patients with • Affects a subset of 10-20% of the general population with joint Vascular EDS may hypermobility not be hypermobile • Genetic testing unavailable Imaging Additional Echocardiogram (MRI Brain/spine) Labs (Rule out - MVP) HSD/EDS / Chiari 1 hEDS Dexa-Scan Gastrointestinal Dysautonomia (Rule out - (Caution – Complications during Evaluation colonoscopy/endoscopy such as Testing osteopenia/osteoporosis) perforations & bleeding can occur) Pain Evaluation Bladder Dysfunction (Neuropathic/Musculo Spinal Instability skeletal) Median Arcuate Genetic testing Ligament (Family history of Sleep Apnea Aneurysm Deaths or (Celiac Artery spontaneous bowel Ultrasound) perforation) Features suggesting an The presence of any of the following features alternative diagnosis suggests a need for further evaluation by a Medical Geneticist or EDS Specialist • Extensive widened atrophic scars • Significant sagging skin • Premature aged appearance • Severe periodontal disease • Severe corneal thinning, retinal detachment • Significant kyphoscoliosis ( • History of organ rupture • Young-onset unexplained aortic root dilation, arterial dissection, or aneurysm • Hand and foot deformities • Unexplained significant or extensive varicosities at a young age • Recurrent large hernias • Recurrent pneumothorax • Hypertelorism (wide-set eyes), bifid uvula, or cleft palate • Intellectual disability IS NOT a specific medical diagnosis, instead, an umbrella term used to describe any Dysautonomia: malfunction of the autonomic nervous system Dysfunction of the Autonomic Nervous System (ANS) Autonomic Dysfunction can affect you from Failure of the Sympathetic or Parasympathetic components Head to Toe. of ANS (Affecting multiple organs) Excessive or Overactive ANS actions NOTE: Many of these symptoms can be caused by things other than autonomic Symptoms of nervous system dysfunction Ex. Medication Dysautonomia Dry eyes/Dry Headaches/Migr Blurred vision Lightheadedness Fainting Mouth aines Sensitivity to Difficulty Insomnia SOB/Palpitations Chest Pain light and noise Swallowing Intolerance to Constipation/ Bladder Nausea/Bloating Abdominal Pain large meals Diarrhea Dysfunction Heat/Cold Orthostatic Profound Abnormal Brain Fog Intolerance Intolerance Fatigue Sweating Primary Causes of Disability Patient Evaluation in patients w/ Autonomic Dysfunction in patients w/ Autonomic Dysfunction • • Orthostatic Intolerance Are there other Medical and Neurological conditions? • Fatigue • Determining the need for a referral to a Specialist • Brain Fog • Psychiatric/Psychological evaluations • Determination the extent of disability • Medication evaluation Diagnosis of Autonomic Disorders Lab Tests Tilt- Evaluates the patients blood pressure regulation table Test in response to orthostatic stresses CBC Tryptase Beta2glycoprotein B12 Thyroid Function Antiphospholipid Folate Cortisol Paraneoplastic Panel QSART Measures the function of the post-ganglionic Vitamin D Metanephrines (Autoimmune autonomic nerves that control sweat glands Celiac panel Urine Dysautonomia) also Ana DS dna Beta Prostaglandin f2 w/u for amyloid SSA SSB (mast cell ) immunoglobulin free Cardiac Electrocardiography, Echocardiogram Complement Total N-methylhistamine light chain assay Workup C3, C4 Leukotriene E4 Small Fiber Neuropathy Iga, Igm, Igg, Lupus Anticoagulant Skin Biopsy Postural Orthostatic Tachycardia Syndrome (POTS) - cause of POTS is unknown • A condition characterized by too little blood returning to the heart when moving from a lying down to a standing up position Orthostatic Intolerance • Causes lightheadedness or fainting that can be eased by lying back down • In people with POTS - these symptoms are also accompanied by a rapid increase in heart rate Common and can be disabling ……. Estimated to impact between POTS 1,000,000 - 3,000,000 in United States and millions more around the world • Affect men and women of all ages • Most cases are diagnosed in women between the ages of 15 and 50 • Associated with the presence of excessive tachycardia and other symptoms upon standing Orthostatic Intolerance How to do a Poor Man’s Tilt Table Test at home: Lay flat for 2-3 minutes. Take your bp & pulse and write it down. Stand up for 10 minutes without moving from side to side and take BP & Pulse every 2 minutes and write down the results Record any Symptoms while standing every minute during the test Take Note: Lay back down for another 2 minutes, check BP & Pulse and record if your symptoms go away If it’s too difficult to stay standing, then sit or lay back What time of day you took the test down and stop the test When your last meal was What medications or supplements you were taking, if any Alpha Blockers: Terazosin Examples of… Antidepressants: Selective Serotonin Receptor reuptake inhibitors, Trazodone, Monoamine, Oxidase Drugs that can cause or Inhibitors, Tricyclic antidepressant exacerbate Anti-hypertensives: Sympathetic Blockers Anti-Parkinsonism Levodopa, Pramipexole, Ropirol symptoms of Orthostatic Drugs: Hypotension: Antipsychotics: Olanzapine, Risperidone Beta Blockers: Propranolol Diuretic Drugs: Hydrochlorothiazide, Furosemide ALCOHOL Muscle Relaxant Tizanidine Drugs: Narcotic Analgesic Morphine Drugs: Phosphodiesterase Sildenafil, Tadalafil Inhibitors: Sedatives/Hypnotic Temazepam Drugs: Vasodilator Drugs: Hydralazine, Nitroglycerin, Calcium Channel Blockers Symptoms of MCAS Mast Cell Activation Syndrome (MCAS) Flushing Diarrhea Urticaria (Hives) Gastric Hyperacidity Angioedema Abdominal Cramping Mast Cells are: Nasal Congestion Nausea +/- Vomiting • Part of the immune system • Mast Cells are white blood cells found Rhinorrhea Wheezing Hypotension throughout the body Bronchospastic Cough Tachycardia st • 1 responder for your Immune System Multiple Allergies Fatigue, Lethargy Intolerances ex. Foods, Memory/Concentration Issues medicines, smells When Mast Cells come in contact with antigens, they decide whether Unexplained rashes to create an Immune Response to Allergic Hypotension protect you Headache Diagnosis of MCAS Tryptase Levels Before And After A Reaction Consistent Tryptase Levels >20 may indicate other Mast cell disorder Multiple Allergies/Or Inflammation (not IgE mediated) Anaphylaxis with Hypotension (in response to a bee/wasp sting) Search for Allergic Diseases like Immunocap Citation: Up to Date Clinical Software Application: Mast Cell Symptoms and HSD/hEDS Dysautonomia MCAS some Joint and Muscle Pain/Stiffness Dizziness/Fainting Hives Co-Morbidities of Back/Neck Dry Eyes/Dry Mouth Swelling Clicking Joints Difficulty Swallowing Nasal Congestion HSD/EDS/hEDS Joint Dislocation Shortness of Breath Nasal Discharge Early onset Arthritis Heat/Cold Intolerance Wheezing Dysautonomia Pain from Soft Tissue Injuries (Sprains) Bladder
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