AMYLOIDOSIS a Guide for Patients and Families

Total Page:16

File Type:pdf, Size:1020Kb

AMYLOIDOSIS a Guide for Patients and Families AMYLOIDOSIS A guide for patients and families 1800 620 420 leukaemia.org.au Contents Acknowledgements 4 Introduction 5 The Leukaemia Foundation 6 What is amyloidosis? 10 What are the different types of amyloidosis? 11 Organ involvement 12 What are the symptoms of amyloidosis? 13 Who is at risk of developing amyloidosis? 13 How common is amyloidosis? 14 How is amyloidosis diagnosed? 14 Can amyloidosis be treated? 15 AL amyloidosis 16 AA amyloidosis 38 Hereditary amyloidosis 40 ATTRm 42 Localised AL amyloidosis 44 Wild-type transthyretin amyloidosis (ATTRwt) (also known as senile systemic amyloidosis) 45 What is a clinical trial? 48 Taking care of yourself 50 How can I understand my illness and treatment a little better? 51 What will we tell the children and grandchildren? 54 Useful information sources 55 Glossary of terms 57 Acknowledgements The Leukaemia Foundation gratefully acknowledges the following groups and people who have assisted in the development and revision of the information in this booklet: people who have experienced amyloidosis as a patient or carer, Leukaemia Foundation support staff, haematology nursing staff, clinical haematologists, cardiologists, allied health 4 professionals, Mrs Pat Neely (who also researched and developed the original Understanding Amyloidosis booklet, published in 2010), Dr Simon Gibbs, and Dr Peter Mollee. The Leukaemia Foundation values feedback from people affected by amyloidosis and the healthcare professionals working with them. If you would like to make suggestions, or tell us about your experience of using this booklet, please contact us at [email protected]. July 2017 The first part of this booklet gives a very Introduction general overview of amyloidosis, including the symptoms, diagnosis and This booklet has been written treatment. The sections following this discuss the main types of amyloidosis in to help you and your family more detail. Every section may not apply understand more about to you. It may be useful to look at the list of amyloidosis. contents and read the sections you feel most useful at the time. A diagnosis of amyloidosis may leave many of you feeling shocked, anxious, and In some parts of the booklet we have confused. That is quite understandable as provided additional information you may you will probably have never heard of wish to read on selected topics. Some of amyloidosis before and you will find that you may require more information than is most people you talk with have not heard contained in this booklet, so we have of it either. included some internet addresses that 5 you might find useful. In addition, many A great deal of information can be found of you will receive written information on the internet but some of this may be from the doctors and nurses at your confusing and difficult to understand, treating hospital. and much of it may not apply to your situation. It is hoped that this booklet It is not the intention of this booklet to will help you begin to understand your recommend any particular form of disease a little better. treatment to you. You need to discuss your particular circumstances at all times Please remember the information in this with your treating doctor and team. booklet is written in very general terms. Your disease is unique to you. The We hope you find this booklet useful in treatment you will be offered will be providing support and information. We decided only after your doctors make a would appreciate any feedback from you definite diagnosis on the type of so we can continue to help you and your amyloidosis you have and fully assess family in the future. your disease status. This booklet is written to supplement any information given to you by your doctors and the rest of your treatment team. The Leukaemia Foundation The Leukaemia Foundation Our transport service helps thousands get to and from medical appointments, is the only national charity driving more than one million kilometres dedicated to helping those each year to ensure people get the with leukaemia, lymphoma, medicines they need to beat their myeloma, amyloidosis and blood cancer. related blood disorders survive The Leukaemia Foundation also and then live a better quality provides counselling, comprehensive information, education and support of life. 6 programs and financial assistance to It exists only because of the help the 60,000 Australians who are generous and ongoing support of currently living with a blood cancer. the Australian community. The Leukaemia Foundation also funds Each year, the Leukaemia Foundation researchers who are working tirelessly helps more than 750 families from to discover safer and more effective regional and rural Australia by providing treatments that will save lives and help free accommodation in our capital cities people lead a better quality of life. so they can access life-saving treatment Supporters ensure the Leukaemia at major hospitals. Foundation can continue to give those impacted by blood cancer a strong voice, advocating for change and ensuring all Australians who need them have easy access to the very best blood cancer treatments. Leukaemia Foundation staff are health professionals who provide people affected by amyloidosis and their families with information and support. Support Services Emotional support The Leukaemia Foundation has a team A diagnosis of amyloidosis can have of highly trained and caring support a dramatic impact on a person’s life. staff with qualifications and experience At times it can be difficult to cope with in nursing or allied health who work the emotional stress involved. The across the country. Leukaemia Foundation’s support staff can provide you and your family with We can offer individual support and much needed support during this time. care to you and your family when it Blood Buddies is needed. This is a program for people newly Support Services may include: diagnosed with amyloidosis to be 7 introduced to a trained ‘Buddy’ who Information has been living with amyloidosis for The Leukaemia Foundation has a range at least two years, to share their of booklets, DVDs, fact sheets and experience, their learning, and to other resources that are available free provide some support. of charge. These can be ordered via the form at the back of this booklet or Telephone discussion forums downloaded from leukaemia.org.au. This service enables anyone throughout Education and support programs Australia who has or has been affected by amyloidosis to share their The Leukaemia Foundation offers you experiences, provide tips, and receive you and your family both amyloidosis- education and support in a relaxed specific and general education and forum. Each discussion is facilitated by a support programs throughout Australia. member of the Leukaemia Foundation These programs are designed to support team who is a trained empower you with information about health professional. various aspects of diagnosis and treatment and how to support your general health and wellbeing. Accommodation Amyloidosis Network Group (private Some people need to relocate for Facebook group) treatment and may need help with This is a private group for people accommodation. The Leukaemia affected by amyloidosis to connect Foundation’s staff can help you to find and share their personal experiences. suitable accommodation close to your You can join this closed group at hospital or treatment centre. In many facebook.com/groups/AMYLFA. This areas, the Leukaemia Foundation’s fully group is a great place to share furnished self-contained units and experiences, information, and stay houses can provide a ‘home away from up-to-date on research news. home’ for you and your family. Practical assistance 8 Transport The urgency and lengthy duration of The Leukaemia Foundation also medical treatment can affect everyday assists with transporting people to life for you and your family and there may and from hospital for treatment. be practical things the Leukaemia Courtesy cars and other services are Foundation can do to help. In special available in many areas throughout circumstances, the Leukaemia the country. Foundation provides financial support for patients who are experiencing financial difficulties or hardships as a result of their illness or its treatment. This assistance is assessed on an individual basis. Meeting other patients at the Leukaemia Foundation’s support groups really helped me to understand a little better. I was very grateful for the Leukaemia Foundation’s support during and after my treatment. Advocacy The Leukaemia Foundation is a source of support for you as you navigate the health system. While we do not provide treatment recommendations, we can support you while you weigh up your options. We may also provide information on other options such as special drug access programs, and available clinical trials. Contacting us 9 The Leukaemia Foundation provides free services and support across Australia. Every person’s experience of living with amyloidosis is different. It’s not always easy, but you don’t have to do it alone. Please call 1800 620 420 to speak to a support staff member or to find out more about the services the Leukaemia Foundation offers. Alternatively, contact us via email by sending a message to [email protected] or visit leukaemia.org.au. What is amyloidosis? Amyloidosis is the general term Amyloidosis can be acquired (not a given to a relatively rare group condition you are born with but something that develops over time) or of disorders in which an hereditary (occurs due to a faulty gene abnormal protein known as and is passed down through the family). amyloid is deposited in the It can be localised (amyloid protein tissues and organs of the body. produced and deposited only in one small area of the body), or systemic Amyloid is formed when certain proteins (amyloid protein circulates in the blood 10 fold in an abnormal way to form fibrils, and deposits in one or several organs of which have a unique chemical structure.
Recommended publications
  • Genetic Syndromes and Genes Involved
    ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus.
    [Show full text]
  • Beckwith's Syndrome) M
    Postgrad Med J: first published as 10.1136/pgmj.46.533.162 on 1 March 1970. Downloaded from 162 Case reports VAN DER SLUYS VEER, J., CHOUFOER, J.C., QUERIDO, A., Lancet, i, 1416. VAN DER HEUL, R.O., HOLLANDER, C.F. & VAN RIJSSEL, ZOLLINGER, R.M. & ELLIOTT, D.W. (1959) Pancreatic T.G. (1964) Metastasizing islet cell tumour of the pancreas endocrine function and peptic ulceration. Gastroenter- associated with hypoglycaemia and carcinoid syndrome. ology, 37, 401. Macroglossia, abnormal umbilicus and hypoglycaemia (Beckwith's syndrome) M. W. MONCRIEFF* J. R. MANN M.A., B.M., M.R.C.P. M.B., M.R.C.P., D.C.H. Lecturer in Paediatrics, Registrar in Paediatrics, University of Birmingham Birmingham Children's Hospital A. R. GOLDSMITH G. W. CHANCE M.B.B.S. M.B., M.R.C.P., D.C.H. Registrar in Pathology, Senior Lecturer in Paediatrics, Birmingham Children's Hospital University ofBirmingham Introduction lobe and three had a dome-like elevation of the The syndrome of exomphalos, macroglossia, post- posterior part of the diaphragm. The six surviving natal somatic gigantism and severe hypoglycaemia children developed a characteristic facies with prog- copyright. in various combinations was first described in seven nathos, mid-facial under development and slight infants by Beckwith (1963) and Beckwith et al. exophthalmos, and a mid-line frontal ridge. Post- (1964). At necropsy the main features were cyto- natal somatic gigantism occurred in five of the six megaly of the foetal adrenal cortex, renal medullary survivors. A further seven cases with macroglossia dysplasia, and hyperplasia of the pancreas and and umbilical abnormality were reported by Shafer kidneys.
    [Show full text]
  • PDF WEETH LECTURE Early Oral Cancers and Precancers
    12/28/2018 CAUTION WEETH LECTUURE • Participants should be cautioned about the potential risks of using limited knowledge when integrating new techniques. EARLY ORAL CANCERS AND PRE-CANCERS MARY RIEPMA ROSS THEATER LINCOLN NEBRASKA JANUARY 4, 2019 DONALD M. COHEN DMD, MS, MBA PROFESSOR OF ORAL & MAXILOFACIAL PATHOLOGY ACTING CHAIR DEPARTMENT OF ORAL DIAGNOSTIC SCIENCS UNIVERSITY OF FLORIDA COLLEGE OF DENTISTRY GAINESVILLE, FLORIDA [email protected] 800-500-7585 Conflicts of Interests Course Objectives • Neither my immediate family nor I have any • Upon completion of this course, participants should be able to: financial interests that would create a conflict of • Recognize and formulate a differential diagnosis, understand the etiology and interest or restrict our independent judgment management of various oral and maxillofacial conditions. with regard to the content of this course. • Better recognize early mailignacies, improve diagnostic skills for oral soft and hard tissue lesions through practice sessions utilizing the audience response devices. GENERAL DENTIST TO ORAL SURGEON ORAL SURGOEN NOT TO WORRY PLEASE TAKE OUT TWO LOOSE TEETH TWO WEEK FOLLOW UP!! 1 12/28/2018 IDIOPATHIC LEUKOPLAKIA • FEATURES TO WORRY ABOUT • Occurrence in non-smoker • Thickened often corrugated appearance • Associated erythema • High risk location-horseshoe shaped area • ??pain • Multifocal or recurrent NON-SMOKERS LEUKOPLAKIA TONSILLAR CRYPT EPITHELIUM • Stratified squamous but basaloid so virus can • 5-8 times INCREASED risk of oral cancer invade
    [Show full text]
  • Case Report Surgical Treatment of Congenital True Macroglossia
    Hindawi Publishing Corporation Case Reports in Dentistry Volume 2013, Article ID 489194, 5 pages http://dx.doi.org/10.1155/2013/489194 Case Report Surgical Treatment of Congenital True Macroglossia Sabrina Araújo Pinho Costa, Mário César Pereira Brinhole, Rogério Almeida da Silva, Daniel Hacomar dos Santos, and Mayko Naruhito Tanabe DepartmentofOralandMaxillofacialSurgery,VilaPenteadoGeneralHospital,AvenueMinistroPetronioˆ Portela, 1642, Freguesia do O,´ 02802-120 Sao˜ Paulo, SP, Brazil Correspondence should be addressed to Sabrina Araujo´ Pinho Costa; [email protected] Received 26 August 2013; Accepted 20 October 2013 Academic Editors: P. Lopez Jornet, A. Mansourian, Y. Nakagawa, and P. I. Varela-Centelles Copyright © 2013 Sabrina Araujo´ Pinho Costa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Macroglossia is a morphological and volumetric alteration of the tongue, caused by muscular hypertrophy, vascular malformation, metabolic diseases, and idiopathic causes and also associated with Down and Beckwith-Wiedemann syndromes. This alteration can cause dental-muscle-skeletal deformities, orthodontic instability, masticatory problems, and alterations in the taste and speech. In this paper we present a case of true macroglossia diagnosed in a female patient, 26 years, melanoderma, no family history of disease, with a history of relapse of orthodontic treatment for correction of open bite, loss of the lower central incisors, and complaint of difficulty in phonation. The patient was submitted to glossectomy under general anesthesia using the “keyhole” technique, with objective to provide reduction of the lingual length and width. The patient developed with good repair, without taste and motor alterations and discrete paresthesia at the apex of the tongue.
    [Show full text]
  • Treatments for Ankyloglossia and Ankyloglossia with Concomitant Lip-Tie Comparative Effectiveness Review Number 149
    Comparative Effectiveness Review Number 149 Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie Comparative Effectiveness Review Number 149 Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 540 Gaither Road Rockville, MD 20850 www.ahrq.gov Contract No. 290-2012-00009-I Prepared by: Vanderbilt Evidence-based Practice Center Nashville, TN Investigators: David O. Francis, M.D., M.S. Sivakumar Chinnadurai, M.D., M.P.H. Anna Morad, M.D. Richard A. Epstein, Ph.D., M.P.H. Sahar Kohanim, M.D. Shanthi Krishnaswami, M.B.B.S., M.P.H. Nila A. Sathe, M.A., M.L.I.S. Melissa L. McPheeters, Ph.D., M.P.H. AHRQ Publication No. 15-EHC011-EF May 2015 This report is based on research conducted by the Vanderbilt Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. 290-2012-00009-I). The findings and conclusions in this document are those of the authors, who are responsible for its contents; the findings and conclusions do not necessarily represent the views of AHRQ. Therefore, no statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services. The information in this report is intended to help health care decisionmakers—patients and clinicians, health system leaders, and policymakers, among others—make well-informed decisions and thereby improve the quality of health care services. This report is not intended to be a substitute for the application of clinical judgment.
    [Show full text]
  • Oral Health in Elderly People Michèle J
    CHAPTER 8 Oral Health in Elderly People Michèle J. Saunders, DDS, MS, MPH and Chih-Ko Yeh, DDS As the first segment of the gastrointestinal system, the At the lips, the skin of the face is continuous with oral cavity provides the point of entry for nutrients. the mucous membranes of the oral cavity. The bulk The condition of the oral cavity, therefore, can facili- of the lips is formed by skeletal muscles and a variety tate or undermine nutritional status. If dietary habits of sensory receptors that judge the taste and tempera- are unfavorably influenced by poor oral health, nutri- ture of foods. Their reddish color is to the result of an tional status can be compromised. However, nutri- abundance of blood vessels near their surface. tional status can also contribute to or exacerbate oral The vestibule is the cleft that separates the lips disease. General well-being is related to health and and cheeks from the teeth and gingivae. When the disease states of the oral cavity as well as the rest of mouth is closed, the vestibule communicates with the the body. An awareness of this interrelationship is rest of the mouth through the space between the last essential when the clinician is working with the older molar teeth and the rami of the mandible. patient because the incidence of major dental prob- Thirty-two teeth normally are present in the lems and the frequency of chronic illness and phar- adult mouth: two incisors, one canine, two premo- macotherapy increase dramatically in older people. lars, and three molars in each half of the upper and lower jaws.
    [Show full text]
  • EUROCAT Syndrome Guide
    JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE
    [Show full text]
  • XI. COMPLICATIONS of PREGNANCY, Childbffith and the PUERPERIUM 630 Hydatidiform Mole Trophoblastic Disease NOS Vesicular Mole Ex
    XI. COMPLICATIONS OF PREGNANCY, CHILDBffiTH AND THE PUERPERIUM PREGNANCY WITH ABORTIVE OUTCOME (630-639) 630 Hydatidiform mole Trophoblastic disease NOS Vesicular mole Excludes: chorionepithelioma (181) 631 Other abnormal product of conception Blighted ovum Mole: NOS carneous fleshy Excludes: with mention of conditions in 630 (630) 632 Missed abortion Early fetal death with retention of dead fetus Retained products of conception, not following spontaneous or induced abortion or delivery Excludes: failed induced abortion (638) missed delivery (656.4) with abnormal product of conception (630, 631) 633 Ectopic pregnancy Includes: ruptured ectopic pregnancy 633.0 Abdominal pregnancy 633.1 Tubalpregnancy Fallopian pregnancy Rupture of (fallopian) tube due to pregnancy Tubal abortion 633.2 Ovarian pregnancy 633.8 Other ectopic pregnancy Pregnancy: Pregnancy: cervical intraligamentous combined mesometric cornual mural - 355- 356 TABULAR LIST 633.9 Unspecified The following fourth-digit subdivisions are for use with categories 634-638: .0 Complicated by genital tract and pelvic infection [any condition listed in 639.0] .1 Complicated by delayed or excessive haemorrhage [any condition listed in 639.1] .2 Complicated by damage to pelvic organs and tissues [any condi- tion listed in 639.2] .3 Complicated by renal failure [any condition listed in 639.3] .4 Complicated by metabolic disorder [any condition listed in 639.4] .5 Complicated by shock [any condition listed in 639.5] .6 Complicated by embolism [any condition listed in 639.6] .7 With other
    [Show full text]
  • Macroglossia and Outcome of Severity Based Treatment Regime
    International Surgery Journal Kumar U et al. Int Surg J. 2021 Jun;8(6):1814-1819 http://www.ijsurgery.com pISSN2349-3305 | eISSN2349-2902 DOI: https://dx.doi.org/10.18203/2349-2902.isj20212277 Original Research Article Macroglossia and outcome of severity based treatment regime Umesh Kumar, Vijaykumar Huded*, Sudipta Bera, Pradeep Jain, Arnab Sarkar, Yasharth Sharma Department of Plastic and Reconstructive Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi Uttar Pradesh, India. Received: 25 March 2021 Revised: 09 May 2021 Accepted: 11 May 2021 *Correspondence: Dr. Vijaykumar Huded, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Background: This study aims to categorize macroglossia patients into mild, moderate, and severe groups and formulate a treatment plan depending upon the severity of tongue involvement. Methods: Eight patients presented with macroglossia between 2018 and 2020 are reviewed retrospectively. The patients were categorized into three subgroups depending upon the clinical presentation and subjected to either sclerotherapy or surgical debulking. The clinical outcome as a reduction of size and symptomatic improvement were analyzed and categorized after a minimum of 6 months follow-up. Results: Eight patients (5 males and 3 females) aged 10-40 years with a mean age of 28.25 (SD 10.29) years were included in the study. Of eight patients, four cases were of vascular malformation, three of neurofibroma, and one was due to amyloidosis.
    [Show full text]
  • Macroglossia and Angioedema
    D J Med Sci 2020;6(2):103-104 doi: 10.5606/fng.btd.2020.25029 Letter to the Editor Macroglossia and angioedema Alihan Oral1, Aysu Akın1, Fatih Türker1, Pelin Doğa Üstüner2, Aydın Tunçkale1 1Department of Internal Medicine, Demiroglu Bilim University, Faculty of Medicine, Istanbul, Turkey 2Department of Dermatology, Demiroglu Bilim University, Faculty of Medicine, Istanbul, Turkey A 68-year-old man with known rheumatoid his third day of hospitalization, the patient’s arthritis, hypertension, chronic renal disease, tongue was abnormally swollen (Figure 1). His chronic ischemic heart disease, and chronic macroglossia was causing speech impediment obstructive pulmonary disease, admitted to and dysphagia. Tongue examination revealed our clinic with shortness of breath, dizziness, a mild nodular appearance on its surface, and dysarthria. He was taking amlodipine with obvious indentations along the bilateral 10 mg/day, furosemide 40 mg/day, prednisolone margins, pink color, firmness, and hypertrophy. 10 mg/day, asetil-salisilik asit (ASA) 100 mg/day, Swollen submental region and protrusion of pantoprazole 40 mg/day, and inhalant salmoterol the tongue were present, causing an inability to 3 puff/day and fluticasone 3 puff/day. He had no close his mouth. Magnetic resonance imaging known allergies. Family history of the patient was revealed oropharyngeal narrowing caused by unremarkable. On examination, blood pressure increased tongue volume. Tongue biopsy results was 135/78 mmHg, heart rate was 90 beats/min, were consistent with glossitis and muscular and respiratory rate was 22 breaths/min. Pretibial hypertrophy. The patient’s renal function pitting edema was observed. Diffused rhonchus gradually worsened and finally hemodialysis was was heard in lung examination.
    [Show full text]
  • Oral Manifestations of Systemic Disease Heidi L
    Oral manifestations of systemic disease Heidi L. Gaddey, MD On examination, the oral cavity may exhibit manifesta- he oral cavity can lend insight into underlying health in tions of underlying systemic disease and serve as an both adults and children. In 2000, the US Surgeon General 1 indicator of overall health. Systemic diseases with oral highlighted the links between oral and general health. findings include autoimmune, hematologic, endocrine, T Many systemic diseases first present as, or can be identified based and neoplastic processes. Autoimmune disease may on, changes within the oral cavity. This article will review select manifest as oral ulcerations, changes in the salivary and common oral cavity findings in adult and pediatric patients and parotid glands, and changes in the tongue. Patients with the systemic diseases with which they may be associated. hematologic illnesses may present with gingival bleeding or tongue changes such as glossitis, depending on the Autoimmune diseases etiology. Oral changes associated with endocrine illness Lupus erythematosus are variable and depend on the underlying condition. Systemic lupus erythematosus (SLE) and discoid lupus ery- Neoplastic changes include metastatic lesions to the thematosus (DLE) present with oral findings in 8%-45% and 2 bony and soft tissues of the oral cavity. Patients with 4%-25% of patients, respectively. SLE is the most common chronic diseases such as gastroesophageal reflux and vascular collagen disorder in the United States. Associated oral eating disorders may present with dental erosions that lesions can vary greatly in appearance, manifesting as ulcer- 3,4 cause oral pain or halitosis. In the pediatric population, ations, erythema, or hyperkeratosis (Fig 1).
    [Show full text]
  • Lingual Cyst with Respiratory Epithelium: the Importance of Differential Diagnosis
    TRANSLATIONAL AND BJBMS LETTER TO EDITOR CLINICAL RESEARCH Lingual cyst with respiratory epithelium: The importance of differential diagnosis Fabrizio Cialente1, Giulia De Soccio1, Vincenzo Savastano2, Michele Grasso1, Michele Dello Spedale Venti3, Massimo Ralli1, Mara Riminucci3, Marco de Vincentiis4, Alessandro Corsi3, Antonio Minni1* The lingual cyst with respiratory epithelium (LCRE) is a ciliated cuboidal and columnar, differentiating it from the very rare congenital cyst of the tongue, floor of the mouth, most commonly observed lingual alimentary cyst, mainly pharynx, or hypopharynx with 21 cases reported in the liter- lined by gastric or intestinal mucosae. However, many reports ature [1,2]. in the literature described the epithelial lining of the lingual Differential diagnosis is very important for patients cyst as composed of both types of epithelium [9]. presenting with lingual cysts, as this may impact treatment The pathogenesis of LCRE is unknown, but it most likely and follow-up. The LCRE should be included in the different represents a congenital abnormality that arises from a misplace- diagnosis of a dermoid cyst [3], teratoid cyst [4], epidermoid ment of undifferentiated cells of the ventral portion of the fore- cyst [5], thyroglossal duct cyst [6], lymphoepithelial cyst [7], gut in week 4 of embryonic development [1,9]. In the 3rd week of and mucocele or ranula [8]. Each entity has a peculiar histo- embryonic development, the foregut divides into a ventral part, logic presentation, although the clinical aspect may be very containing components of the endoderm that lead to the devel- similar [1]. The dermoid cyst is lined by a keratinized squa- opment of the laryngo-tracheo-bronchopulmonary tree, and mous epithelium and contains skin appendages in the cyst.
    [Show full text]