DOCSLIB.ORG

Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation J Pediatr Endocrinol Metab 2018; 31(12): 1325–1333 Yassmin Mansela Musthaffa*, Vikas Goyal, Margaret-Anne Harris, Nitin Kapur, Juliane Leger and Mark Harris Dysregulated glucose homeostasis in congenital central hypoventilation syndrome https://doi.org/10.1515/jpem-2018-0086 intervention reduced the proportion of CGM readings Received February 27, 2018; accepted October 15, 2018; previously <4 mmol/L; however, diazoxide also increased the propor- published online November 17, 2018 tion of readings in the hyperglycaemic range. Abstract Conclusions: Glucose variability associated with auto- nomic dysfunction may be unrecognised in CCHS, par- Background: Congenital central hypoventilation syn- ticularly in children with more severe phenotypes. This drome (CCHS) is a rare disorder of autonomic control. A report highlights the occurrence of hyperglycaemia as hypoglycaemic seizure in a 4-year-old girl with CCHS led well as hypoglycaemia in CCHS. Given the challenges of to a more detailed examination of glycaemic control in a recognising hypoglycaemia based on clinical symptom- cohort of children with CCHS. atology, the use of CGM may facilitate its identification Methods: We conducted an observational cohort study allowing appropriate management. The observed nor- of glucose homeostasis in seven children (3 months to moglycaemia during fasting combined with increased 12 years) with genetically confirmed CCHS using a com- postprandial plasma blood glucose level (BGL) vari- bination of continuous glucose monitoring (CGM), fasting ability is more consistent with dumping syndrome than studies and oral glucose tolerance test (OGTT). CGM was persistent hyperinsulinism. Dietary modifications there- used to compare the effect of diazoxide and dietary inter- fore may be more effective than diazoxide in managing vention in the index patient. hypoglycaemia. Results: Hypoglycaemia was not elicited by fasting in Keywords: congenital central hypoventilation syndrome; any of the patients. Increased postprandial glycaemic diazoxide; hyperglycaemia; hyperinsulinism; hypoglycae- variability was evident in all patients using CGM, with mia; seizures. seven of seven patients demonstrating initial postpran- dial hyperglycaemia (plasma-glucose concentration >7.8 mmol/L), followed by asymptomatic hypoglycae- mia (plasma- glucose concentration ≤2.8 mmol/L) in two of seven patients that was also demonstrated on OGTT. Introduction Both diazoxide and low Glycaemic Index (GI) dietary Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy resulting from heterozygous poly- alanine repeat expansions within the paired-like home- *Corresponding author: Dr. Yassmin Mansela Musthaffa, BHB, MBChB, FRACP, Dip Child Health, Department of Endocrinology obox 2B (PHOX2B) gene [1]. The main symptom is alveolar and Diabetes, Lady Cilento Children’s Hospital, South Brisbane, hypoventilation resulting from an inappropriate central Queensland, Australia; and School of Medicine, University of respiratory drive. Patients with the most severe pheno- Queensland, Brisbane, Queensland, Australia, type, which often includes features of autonomic nervous E-mail: [email protected] system dysfunction (ANSD) [2], generally have a higher Vikas Goyal, Margaret-Anne Harris and Nitin Kapur: Department number of polyalanine repeats [3–5]. of Respiratory Medicine, Lady Cilento Children’s Hospital, South Brisbane, Queensland, Australia; and School of Medicine, University Dysregulated glucose homeostasis may rep- of Queensland, Brisbane, Queensland, Australia resent an under-appreciated component of CCHS. Juliane Leger: Assistance Publique-Hôpitaux de Paris, Hôpital Initial case reports described hypoglycaemia occur- Robert Debré, Department of Endocrinology and Diabetes, Paris ring in the context of hyperinsulinism [6–11]. A recent Diderot University, Paris, France study, however, suggested a more complex disorder Mark Harris: Department of Endocrinology and Diabetes, Lady Cilento Children’s Hospital, South Brisbane, Queensland, Australia; of glucose regulation, describing hyperglycaemia in and School of Medicine, University of Queensland, Brisbane, both the fasting and postprandial state [12]. Out of 14 Queensland, Australia patients studied, using 24-h plasma glucose profiles and Brought to you by | University of Queensland - UQ Library Authenticated Download Date | 2/1/19 4:17 AM 1326 Musthaffa et al.: Dysglycaemia in congenital central hypoventilation syndrome responses to an oral glucose tolerance test (OGTT), 57% Patients and methods were found to have an abnormality of glucose homeo- stasis. Interestingly, none of the patients exhibited Subjects hypoglycaemia after an overnight fast [12]. The results of continuous glucose monitoring (CGM) was first reported All children with CCHS managed by the respiratory department of the in an infant (PHOX2B 20/27) with symptomatic postpran- Lady Cilento Children’s Hospital, Brisbane, Australia, were invited to dial hypoglycaemia [9]. Although hyperglycaemia was participate in a cross-sectional descriptive study. The diagnosis of CCHS was based on the following criteria: (1) persistent central alveo- not the subject of this paper, the patient’s CGM traces lar hypoventilation in the absence of primary lung, neuromuscular, demonstrated immediate postprandial glycaemic excur- cardiac or brain stem abnormality, (2) absent or weak hypercapnic sions up to 11.1 mmol/L (200 mg/dL) followed by asymp- ventilatory responses and (3) a confirmed genetic diagnosis of CCHS tomatic hypoglycaemia (~2.2 mmol/L) occurring prior in keeping with the official clinical policy statement of the American to dietary or medical intervention [9]. These findings Thoracic Society [4]. In total, eight patients with CCHS were screened between 2016 and 2017. One patient (PHOX2B 20/24), with significant highlighted the possibility of a dynamic disturbance of autistic spectrum disorder but without other ANSD was excluded as glycaemic regulation in CCHS. they were unable to tolerate CGM. PT1 was diagnosed at 2 months The autonomic nervous system (ANS) coordinates the of age while all other patients were diagnosed within the neonatal function of pancreatic islets, with parasympathetic acti- period upon investigation of hypoventilation. Only PT1 had features vation stimulating both insulin and glucagon secretion, of ANSD. Patient characteristics are shown in Table 1. while the sympathetic nervous system inhibits insulin secretion while promoting glucagon release. Disturbances in the oscillatory patterns of insulin secretion have been CGM described in association with diseases affecting the ANS [13]. Abnormal gastrointestinal motility associated with Both inpatient and outpatient CGM were undertaken in PT1 and PT2. Outpatient CGM screening was undertaken in PT3 to PT7 for ANSD may also result in altered glucose delivery across 5 days while children performed their normal daily activities using the gut thereby contributing to glycaemic variability [14]. the Dexcom™ G4 Continuous Glucose Monitoring System (San Patients with dumping syndrome have early postpran- Diego, CA, USA). Outpatient monitoring was more representative dial hyperglycaemia that triggers an exaggerated insulin of a daily glycaemic profile and provided the opportunity to moni- response resulting in subsequent postprandial hypogly- tor patients for a longer period of time. As all children in the study required intensive respiratory support, outpatient monitoring also caemia [14]. avoided the practical difficulties associated with extended inpa- The occurrence of an unprovoked, hypoglycaemic tient monitoring. seizure occurring 2–3 h following a meal in a 4-year-old None of the children experienced any intercurrent illnesses dur- girl (PT1) with CCHS prompted a more detailed evaluation ing their CGM monitoring. Patients were asked to calibrate the CGM of glucose homeostasis in a cohort of seven children with measurements at least twice daily, and to validate any hypoglycae- CCHS. We postulated that a disconnect between insulin mia or hyperglycaemia using glucometer readings (FreeStyle Optium Neo Blood Glucose and Ketone Monitoring System, Abbott Diabetes release and plasma blood glucose level (BGL) second- Care Inc., Alameda, CA, USA). Patients maintained a food diary dur- ary to ANSD may contribute to both hyperglycaemia and ing the entire period of screening. A single paediatric endocrine dieti- hypoglycaemia in these patients. cian provided education and monitoring of all food diaries. Table 1: Clinical characteristics of participants. Age, sex Genotypea Respiratory Cardiac CNS disorders GI dysmotility Neural crest support dysautonomia tumours PT1 4 years, female 20/28 Sleep-Trach Yesb No Yese No PT2 1 year, female 20/24 Sleep-Trach No No No No PT3 10 years, female 20/24 Sleep-NIV No No No No PT4 9 years, male 20/24 Sleep-NIV No No No No PT5 5 years, male 20/24 Sleep-Trach No Yesc No No PT6 8 years, female 20/25 Sleep-NIV No Yesc,d No No PT7 3 month, female 20/24 Sleep-Trach No No No No aNumber of polyalanine repeats. bCardiac pacemaker. cSpeech delay. dAutistic spectrum disorder. eHirschsprung’s disease. Trach, tracheostomy; NIV, non-invasive ventilation; GI, gastrointestinal. Brought to you by | University of Queensland - UQ Library Authenticated Download Date | 2/1/19 4:17 AM Musthaffa et al.: Dysglycaemia in congenital central hypoventilation syndrome 1327 Comparison of diazoxide and dietary intervention on Results glycaemic variability Spontaneous symptomatic hypoglycaemia PT1 had additional
Load more

Recommended publications
  • 39 Voiding Dysfunction in Patients with Dysautonomia
    39 Shridharani A1, Guralnick M1, Barboi A1, Jaradeh S1, Prieto T1, Yellick M1, O'Connor R C1 1. Medical College of Wisconsin VOIDING DYSFUNCTION IN PATIENTS WITH DYSAUTONOMIA Hypothesis / aims of study Dysautonomia, or autonomic dysfunction, is a primary neurologic condition resulting from failure of the sympathetic or parasympathetic nervous systems. The disorder has a myriad of clinical presentations including dysregulation of body temperature, orthostatic intolerance, gastrointestinal motility disorders and chronic pain syndromes. Urologically, while sexual dysfunction has been recognized as part of the autonomic dysfunction spectrum, voiding symptoms have been inadequately characterized. We present the chief urologic complaints, results of urodynamic studies and treatments of patients with a known history of dysautonomia referred to our neuro-urology clinic. Study design, materials and methods Retrospective chart review was performed on all patients seen between 2003 and 2008 in the neuro-urology clinic for voiding dysfunction with the concomitant diagnosis of dysautonomia. Patients with other neurologic diagnoses, such a multiple sclerosis or a history of spinal surgery, were excluded from the analysis. All patients underwent focused history and physical examination as well as video urodynamic studies. Upper tract imaging by renal ultrasound or computerized tomography of the abdomen/pelvis was performed on select patients. Treatment modalities that subjectively and objectively improved the patient’s symptoms were recorded. Objective improvements were measured via post void residual bladder volume, uroflowmetry and/or urodynamic studies. Results Of 443 patients with the diagnosis of dysautonomia, 37 (8%) were referred for evaluation of voiding dysfunction. Mean age was 47 years (range 12 - 80) and 31/37 (84%) patients were female.
    [Show full text]
  • Neuromuscular Weakness in The
    Neuromuscular Disorders in the Intensive Care Unit -when and how M. S. Damian, Addenbrookes Hospital, Cambridge Background to this talk? • Neuromuscular admissions to the ICU are increasing • The incidence of individual conditions is not clear • The true outcomes of these patients are unclear • Mortality rates in patients treated with Myasthenia and Guillain Barre Syndrome have not significantly improved in the last 20 years, neither have treatments [Damian MS, Howard R, Int Care Med 2013] • Bad medicine is expensive (Example: An MG case with recurrent crises. 1 year pre-Rituximab: £39,810 costs incl. 14d ICU stay 1 year on Rituximab: ca. £8,000 total costs, no ICU stay M. S. Damian, Addenbrookes Hospital, Cambridge Which neuromuscular symptoms may require treatment in the ICU? • Severe respiratory weakness • Bulbar weakness and aspiration • Cardiomyopathy and heart failure • Arrhythmia • Dysautonomia • Acute rhabdomyolysis and renal failure M. S. Damian, Addenbrookes Hospital, Cambridge 3 main groups of patients with neuromuscular disease may require treatment in the ICU I. Patients with severe new onset of neuromuscular disease II. Patients with pre-existing chronic neuromuscular conditions who develop acute complications III. Patients whose neuromuscular disorder arises in the ICU M. S. Damian, Addenbrookes Hospital, Cambridge Severe new onset neuromuscular disease in the ICU • Guillain Barre Syndrome • Severe acute neuropathy • Acute flaccid paralysis syndrome (WNV, enterovirus 71- mostly with encephalitis) • Myasthenic crisis and
    [Show full text]
  • 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
    [Show full text]
  • The Latest in Research in Familial Dysautonomia
    2018 – 2019 YEAR IN REVIEW THE LATEST IN RESEARCH IN FAMILIAL DYSAUTONOMIA _______ A MESSAGE FROM OUR DIRECTOR______ ver the last 12 months, the Center’s research efforts have continued us on the path of finding better treatments. There has never been a more O exciting time when it comes to developing new therapies for neurological diseases. In other rare diseases, it has been possible to edit genes, fix protein production, and even cure illnesses with a single infusion. These new treatments have been accomplished thanks to basic scientists and clinicians working together. Over the last 11-years, I have watched the Center grow into a powerhouse of clinical care as well as research built on training, learning, and collaboration. The team at the Center has built a research framework on an international scale, which means no patient will be left behind when it comes to developing treatments. We now follow patients in the United States, Israel, Canada, England, Belgium, Germany, Argentina, Brazil, Australia and Mexico. The natural history study where we collect all clinical and laboratory data is helping us design the trials to get new treatments in to the clinic as required by the US Food and Drug Administration (FDA). In December 2018, I visited Israel to attend the family caregiver conference and made certain that all Israeli patients participate in the natural history study, a critical step to enroll the necessary number of patients. Because FD is a rare disease, we need patients from all corners of the globe to participate. Geographical constraints should not limit be a limit to the progress we can make for FD.
    [Show full text]
  • Brainstem Dysfunction in Critically Ill Patients
    Benghanem et al. Critical Care (2020) 24:5 https://doi.org/10.1186/s13054-019-2718-9 REVIEW Open Access Brainstem dysfunction in critically ill patients Sarah Benghanem1,2 , Aurélien Mazeraud3,4, Eric Azabou5, Vibol Chhor6, Cassia Righy Shinotsuka7,8, Jan Claassen9, Benjamin Rohaut1,9,10† and Tarek Sharshar3,4*† Abstract The brainstem conveys sensory and motor inputs between the spinal cord and the brain, and contains nuclei of the cranial nerves. It controls the sleep-wake cycle and vital functions via the ascending reticular activating system and the autonomic nuclei, respectively. Brainstem dysfunction may lead to sensory and motor deficits, cranial nerve palsies, impairment of consciousness, dysautonomia, and respiratory failure. The brainstem is prone to various primary and secondary insults, resulting in acute or chronic dysfunction. Of particular importance for characterizing brainstem dysfunction and identifying the underlying etiology are a detailed clinical examination, MRI, neurophysiologic tests such as brainstem auditory evoked potentials, and an analysis of the cerebrospinal fluid. Detection of brainstem dysfunction is challenging but of utmost importance in comatose and deeply sedated patients both to guide therapy and to support outcome prediction. In the present review, we summarize the neuroanatomy, clinical syndromes, and diagnostic techniques of critical illness-associated brainstem dysfunction for the critical care setting. Keywords: Brainstem dysfunction, Brain injured patients, Intensive care unit, Sedation, Brainstem
    [Show full text]
  • Pain Assessment and Treatment in Children with Significant Impairment of the Central Nervous System Julie Hauer, Amy J
    CLINICAL REPORT Guidance for the Clinician in Rendering Pediatric Care Pain Assessment and Treatment in Julie Hauer, MD, FAAP, a, b Amy J. Houtrow, MD, PhD, MPH, FAAP, c SECTION ON HOSPICE ChildrenAND PALLIATIVE MEDICINE, COUNCIL With ON CHILDREN Significant WITH DISABILITIES Impairment of the Central Nervous System Pain is a frequent and significant problem for children with impairment abstract of the central nervous system, with the highest frequency and severity occurring in children with the greatest impairment. Despite the significance of the problem, this population remains vulnerable to underrecognition and undertreatment of pain. Barriers to treatment may include uncertainty in identifying pain along with limited experience and fear with the use of aComplex Care Service, Division of General Pediatrics, Boston medications for pain treatment. Behavioral pain-assessment tools are Children’s Hospital, Assistant Professor, Harvard Medical School, Boston Massachusetts; bSeven Hills Pediatric Center, Groton, reviewed in this clinical report, along with other strategies for monitoring Massachusetts; and cDepartment of Physical Medicine and Rehabilitation, University of Pittsburgh, Pediatric Rehabilitation pain after an intervention. Sources of pain in this population include Medicine, Rehabilitation Institute, Children’s Hospital of Pittsburgh of acute-onset pain attributable to tissue injury or inflammation resulting UPMC, Pittsburgh, Pennsylvania in nociceptive pain, with pain then expected to resolve after treatment Dr Hauer conceptualized and drafted the initial manuscript, reviewed and responded to questions and comments from all reviewers, and directed at the source. Other sources can result in chronic intermittent pain contributed to writing the final manuscript; Dr Houtrow contributed that, for many, occurs on a weekly to daily basis, commonly attributed to to the initial drafting and editing at all stages, including the final manuscript; and all authors approved the final manuscript as gastroesophageal reflux, spasticity, and hip subluxation.
    [Show full text]
  • Diabetic Autonomic Neuropathy: a Clinical Update Jugal Kishor Sharma1, Anshu Rohatgi2, Dinesh Sharma3
    J R Coll Physicians Edinb 2020; 50: 269–73 | doi: 10.4997/JRCPE.2020.310 TOPICAL REVIEW Diabetic autonomic neuropathy: a clinical update Jugal Kishor Sharma1, Anshu Rohatgi2, Dinesh Sharma3 ClinicalDiabetic autonomic neuropathy is an under-recognised complication of Correspondence to: diabetes and the prediabetic state. A wide range of manifestations can be Jugal Kishor Sharma Abstract seen due to involvement of cardiovascular, gastrointestinal, genitourinary, Medical Director sudomotor and neuroendocrine systems. Cardiac autonomic neuropathy is Central Delhi Diabetes the most dreaded complication carrying signi cant mortality and morbidity. Centre Early detection and control of diabetes and other cardiovascular risk factors 34/34, Old Rajinder Nagar is the key to treat and prevent progression of autonomic neuropathy. Recently, a new entity New Delhi 110060 of treatment-induced neuropathy (TIND) of diabetes mellitus causing autonomic neuropathy India is being increasingly recognised. Email: Keywords: diabetic autonomic neuropathy, cardiac autonomic neuropathy, treatment- [email protected] induced neuropathy Financial and Competing Interests: No confl ict of interests declared Introduction protein kinase C (PKC) activation and advanced glycation end- products (AGEs) formation. Hyperglycaemia and vascular risk The incidence and prevalence of diabetes mellitus (DM) is factors activate these noxious pathways which cause injury to increasing all over the world, with an estimated 425 million microvascular endothelium, nerve support cells and axons.6 people suffering from DM.1 Peripheral neuropathy and Recently, however, the focus has been on dyslipidemia and autonomic neuropathy are complications of uncontrolled elevated triacylglycerols as a source of non-esterifi ed fatty acid DM. Dysautonomia can manifest as generalised autonomic (NEFA) in type 2 DM.
    [Show full text]
  • Dysautonomia (Let's Talk About...Pediatric Brochure)
    In partnership with Primary Children’s Hospital Let’s Talk About... Dysautonomia What is it? What are the symptoms of Dysautonomia (dis-aw-tuh-noh-mee-uh) is a dysautonomia? condition that may occur if a person severely injures Often the signs of dysautonomia do not show up their brain. You may also hear this called thalamic until after your child is coming out of a coma. Your storming, sympathetic storming, autonomic child may be sedated with medicine because of the dysfunction syndrome, or just simply “storming.” brain injury. These signs may also show up after they Our brain controls many automatic things that we are weaned off the medicine. As a child becomes are unaware of such as breathing, heart rate, blood more awake you may see some or all of the following pressure, and body temperature. After a severe brain symptoms associated with dysautonomia: injury, the ability to control these automatic • Agitation. functions may be impaired. A person may have • An increased temperature (hyperthermia). exaggerated and unexpected responses to normal stimulation such as moving, being touched, loud • Excessive sweating (diaphoresis). noises, or pain. “Storming” may also occur “out of • An increased heart rate (tachycardia). the blue” without a known cause. It is unclear why this occurs. It is thought that after a brain injury, the • An increase in breathing rate (tachypnea). different parts of the brain are not properly working • Increased muscle tone, tightness, and arching together. This causes an overreaction to the brain’s (spasticity). natural stress response. This is also called the “fight • Dilated or large pupils.
    [Show full text]
  • What Is Dysautonomia?
    Downloaded from www.dysautonomiainternational.org What is Dysautonomia? Dysautonomia is an umbrella term used to describe various conditions that cause a malfunction of the Autonomic Nervous System. The Autonomic Nervous System (ANS) controls most of the essential functions of the body that we do not consciously think about, such as heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye and temperature control. The ANS is made up of two branches: the Sympathetic Nervous System (SNS) and the Parasympathetic Nervous System (PNS). The SNS controls the more active "fight or flight" responses such as increasing heart rate and blood pressure.1,2 The PNS can be thought of as the "rest and digest" part of the autonomic nervous system, as it slows down the heart rate and aides in digestion.1,3,4 The endocrine and metabolic systems are involved as well.3 These systems are in balance in a healthy person, and react correctly to outside stimuli, such as temperature, stress, and gravity. When they are out of balance and do not function properly for any number of reasons, autonomic dysfunction - or dysautonomia - occurs. People living with various forms of dysautonomia have trouble regulating these systems, which can result in symptoms such as lightheadedness, fainting, unstable blood pressure, tachycardia or bradycardia, gastoparesis and more. Dysautonomia can occur as a primary disorder or in association with other conditions, such as diabetes, rheumatoid arthritis and Parkinson disease.1,3 Some of the more common forms of dysautonomia include Neurocardiogenic Syncope (NCS, sometimes called Vasovagal Syncope), Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Intolerance (OI).
    [Show full text]
  • COVID-19 Dysautonomia
    BRIEF RESEARCH REPORT published: 13 April 2021 doi: 10.3389/fneur.2021.624968 COVID-19 Dysautonomia Brent P. Goodman 1*, Julie A. Khoury 1, Janis E. Blair 2 and Marie F. Grill 1 1 Department of Neurology, Mayo Clinic, Scottsdale, AZ, United States, 2 Infectious Disease, Mayo Clinic, Scottsdale, AZ, United States Objective: To report a case series of dysautonomia associated with COVID-19 infection. Methods: This is a retrospective review of patients evaluated in the autonomic clinic at our institution with suspected signs and symptoms of dysautonomia who underwent formal evaluation, including autonomic testing. Results: Six patients were identified with signs and symptoms suggestive of dysautonomia who underwent autonomic testing. All patients had symptoms typical of COVID-19 infection, though none were hospitalized for these or other symptoms. All patients reported symptoms of postural lightheadedness and near-syncope, fatigue, and activity intolerance. Five patients reported the onset of autonomic symptoms concomitant with other COVID-19 symptoms, with the other patient reporting symptom onset 6 weeks following initial COVID-19 symptoms. Autonomic testing demonstrated an excessive postural tachycardia in 4 patients, a hypertensive response with head-up tilt in 3 patients, orthostatic hypotension in 1 patient, and sudomotor impairment in 1 of Edited by: the patients with excessive postural tachycardia. Alberto Porta, University of Milan, Italy Conclusions: We present clinical features and results of autonomic testing in 6 Reviewed by: patients with a history COVID-19 infection. While all patients reported typical features Vlasta Bari, of orthostatic intolerance, fatigue, and activity intolerance, the results of autonomic IRCCS Policlinico San Donato, Italy Maja Elstad, testing were heterogenous, with orthostatic hypotension in 1 patient, excessive postural University of Oslo, Norway tachycardia typical of postural tachycardia syndrome in 4 patients, and postural Raffaello Furlan, Humanitas Research Hospital, Italy hypertension in 3 patients.
    [Show full text]
  • 5 Things You Should Know About Dysautonomia 1. Dysautonomia Is
    5 Things You Should Know About Dysautonomia 1. Dysautonomia is a group of neurological disorders that impacts over 70 million people around the world. It is an umbrella term used to describe neurological disorders that cause malfunction of the Autonomic Nervous System (ANS), which regulates heart rate, blood pressure, digestion, kidney function, temperature control and more. Dysautonomia occurs when the sympathetic nervous system (fight or flight) and/or the parasympathetic nervous system (rest and digest) are not working properly. 2. POTS (Postural Orthostatic Tachycardia Syndrome) is a form of Dysautonomia that I myself struggle with. Sadly, 75% of people diagnosed with POTS are misdiagnosed for an average of 4 years and 2 months prior to being diagnosed with POTS and see an average of 7 different doctors prior to diagnosis. The most common age of onset is 14, and about 90% of POTS patients are female. This impacts an estimated 1,000,000 to 3,000,000 Americans and millions more around the world, and is actually more common than well-known medical conditions like MS. The Mayo Clinic found that the disability seen in POTS is similar to the disability seen in Congestive Heart Failure or COPD. 50% of POTS patients have to travel over 100 miles to receive care; I myself have to travel to Birmingham, AL. 3. Dysautonomia is considered an invisible illness, which means that on the outside we look completely normal but on the inside that is not the case. I suffer from Neurocardiogenic syncope which is a form of Dysautonomia that no one would expect me to have because on the outside I look fine, but “episodes” can include a rapid drop in heart rate, then blood pressure, abrupt loss of motor function (legs giving out), non-epileptic seizures or convulsions (so not fun), fainting and falling.
    [Show full text]
  • Dysautonomiaperioperative Implications
    REVIEW ARTICLE David S. Warner, M.D., Editor Dysautonomia Perioperative Implications Hossam I. Mustafa, M.D., M.S.C.I.,* Joshua P. Fessel, M.D., Ph.D.,† John Barwise, M.D.,‡ John R. Shannon, M.D.,§ Satish R. Raj, M.D., M.S.C.I.,ʈ Andre´ Diedrich, M.D., Ph.D.,# Italo Biaggioni, M.D.,** David Robertson, M.D.†† This article has been selected for the ANESTHESIOLOGY CME Program. Learning objectives and disclosure and ordering information can be found in the CME section at the front of this issue. ABSTRACT physiologic and pharmacologic stimuli. Orthostatic hypo- tension is often the finding most commonly noted by physi- Severe autonomic failure occurs in approximately 1 in 1,000 cians, but a myriad of additional and less understood find- people. Such patients are remarkable for the striking and ings also occur. These findings include supine hypertension, sometimes paradoxic responses they manifest to a variety of altered drug sensitivity, hyperresponsiveness of blood pres- sure to hypo/hyperventilation, sleep apnea, and other neuro- * Research Fellow, Autonomic Dysfunction Center, Division of Clin- logic disturbances. ical Pharmacology, Departments of Medicine and Pharmacology, Au- In this article the authors will review the clinical patho- tonomic Rare Disease Clinical Research Consortium, Vanderbilt Uni- physiology that underlies autonomic failure, with a particu- versity Medical Center, Nashville, Tennessee. † Assistant Professor, Autonomic Dysfunction Center, Divisions of Pulmonary and Critical lar emphasis on those aspects most relevant to the care of Care Medicine, Departments of Medicine and Pharmacology, Auto- such patients in the perioperative setting. Strategies used by nomic Rare Disease Clinical Research Consortium, Vanderbilt Univer- clinicians in diagnosis and treatment of these patients, and sity Medical Center.
    [Show full text]