DOCSLIB.ORG

Gout, Pseudogout and Apatite-Associated Syndromes

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Gout, Pseudogout and Apatite-Associated Syndromes DK9382_half 2/15/06 9:43 AM Page 1 Crystal-Induced Arthropathies Crystal-Induced Arthropathies Gout, Pseudogout and Apatite-Associated Syndromes edited by Robert L. Wortmann University of Oklahoma College of Medicine Tulsa, Oklahoma, U.S.A. H. Ralph Schumacher, Jr. University of Pennsylvania and VA Medical Center Philadelphia, Pennsylvania, U.S.A. Michael A. Becker University of Chicago School of Medicine Chicago, Illinois, U.S.A. Lawrence M. Ryan Medical College of Wisconsin Milwaukee, Wisconsin, U.S.A. New York London Taylor & Francis is an imprint of the Taylor & Francis Group, an informa business DK9382_Discl.fm Page 1 Friday, April 14, 2006 11:40 AM Published in 2006 by Taylor & Francis Group 270 Madison Avenue New York, NY 10016 © 2006 by Taylor & Francis Group, LLC No claim to original U.S. Government works Printed in the United States of America on acid-free paper 10 9 8 7 6 5 4 3 2 1 International Standard Book Number-10: 0-8493-9382-5 (Hardcover) International Standard Book Number-13: 978-0-8493-9382-2 (Hardcover) Library of Congress Card Number 2006040382 This book contains information obtained from authentic and highly regarded sources. Reprinted material is quoted with permission, and sources are indicated. A wide variety of references are listed. Reasonable efforts have been made to publish reliable data and information, but the author and the publisher cannot assume responsibility for the validity of all materials or for the consequences of their use. No part of this book may be reprinted, reproduced, transmitted, or utilized in any form by any electronic, mechanical, or other means, now known or hereafter invented, including photocopying, microfilming, and recording, or in any information storage or retrieval system, without written permission from the publishers. For permission to photocopy or use material electronically from this work, please access www.copyright.com (http://www.copyright.com/) or contact the Copyright Clearance Center, Inc. (CCC) 222 Rosewood Drive, Danvers, MA 01923, 978-750-8400. CCC is a not-for-profit organization that provides licenses and registration for a variety of users. For organizations that have been granted a photocopy license by the CCC, a separate system of payment has been arranged. Trademark Notice: Product or corporate names may be trademarks or registered trademarks, and are used only for identification and explanation without intent to infringe. Library of Congress Cataloging-in-Publication Data Crystal-induced arthropathies : gout, pseudogout and apatite-associated syndromes / edited by Robert L. Wortmann … [et al.] p. cm. ISBN-13: 978-0-8493-9382-2 (alk. paper) ISBN-10: 0-8493-9382-5 (alk. paper) 1. Gout--Etiology. 2.Hyperuricemia. I. Wortmann, Robert. RC629.3.C795 2006 616.3’999--dc22 2006040382 Visit the Taylor & Francis Web site at http://www.taylorandfrancis.com Taylor & Francis Group is the Academic Division of Informa plc. Preface When most people hear the term “crystal-induced arthropathy,” they think of gout, the disease that results from the body’s response to monosodium urate crystals. Furthermore, they usually envision a patient with acute, intensely inflammatory monoarthritis, the cardinal feature of gout. However, gout is not the most common crystal-induced arthropathy. The arthropathies that result from the body’s response to calcium-containing crystals, those of calcium pyrophos- phate dihydrate or basic calcium phosphates, occur more frequently. In fact, it is likely that everyone will develop some sort of calcium-containing arthropathy if they live long enough. Furthermore, although each crystal type can induce an acute monoarticular disease, each can also be associated with a variety of other clinical presentations. Thus, the crystal-induced arthropathies are common and complex diseases. Whereas gout has been recognized for centuries, not until 1960 was it appreciated that monosodium urate crystals were present in the synovial fluid in patients with attacks of gout. It was at that same time that calcium pyrophosphate dihydrate crystals were identified in joint fluids from patients who were pre- viously believed to suffer from gout and the term “pseudogout” was coined. Our present understanding of basic calcium phosphate arthropathies began to unfold in the early 1980s with the description of Milwaukee shoulder syndrome. Motivation for this work stemmed from the editors’ long-standing interest in the crystal-induced arthropathies, each of us having been actively investigating various elements of these diseases for the last 30 to 40 years. It was our desire to produce a concise but comprehensive review of this large field, recognizing that much of the present understanding of these diseases is the result of observations that have occurred during the span of our careers. In addition to reviewing the present state of understanding regarding the clinical presentations of the various iii iv Preface diseases, their respective underlying pathogeneses, and current approaches to management, our goals included providing a sound basis for understanding the discoveries that will be made in the future, both in etiology and in therapy. If we have accomplished our goals, this book will be helpful to clinicians, teachers, and scientists. The authors who have contributed to this text share the editors’ interest and enthusiasm for the field. We were particularly pleased that Dan McCarty was willing to share his perspective on the history of the crystal-induced arthro- pathies. As one of the individuals who identified monosodium urate crystals in gouty synovial fluids, recognized pseudogout, and described Milwaukee shoulder syndrome, he has contributed greatly to our knowledge of the field. In addition, he has provided training and influenced a large number of investigators, many of whom authored chapters for this edition. Although most authors of this text can not match Dr. McCarty’s breadth of observations, each of the senior authors has been involved in original research in the area about which they wrote and is widely recognized for their individual expertise. We are also pleased to have involved younger individuals who will become future leaders in this field. Robert L. Wortmann H. Ralph Schumacher, Jr. Michael A. Becker Lawrence M. Ryan Contents Preface ....iii Contributors ....xiii 1. Crystal-Induced Arthropathies—Historical Aspects . 1 Daniel J. McCarty Introduction . 1 Monosodium Urate Crystal Deposition . 1 Calcium Pyrophosphate Dihydrate (CPPD) Crystal Deposition . 3 Basic Calcium Phosphate Crystal Deposition . 4 References . 5 2. The Epidemiology of Gout and Calcium Pyrophosphate Dihydrate Deposition Disease . 7 Kenneth G. Saag, Ted R. Mikuls, and Joel Abbott Introduction—Gout . 7 Estimates of Frequency of Gout . 9 Gout Comorbidities, Other Associations, and Prognosis .... 18 Calcium Pyrophosphate Dihydrate Deposition Disease . 22 Estimates of Frequency of CPPD Diseases . 22 Epidemiology of Basic Calcium Phosphate Arthropathies . 26 References . 27 v vi Contents 3. Genetics of the Crystal-Induced Arthropathies . 37 Raihana Zaka and Charlene J. Williams Introduction . 37 Familial Gout Syndromes . 37 Familial Juvenile Hyperuricemic Nephropathy . 38 Autosomal Dominant Medullary Cystic Kidney Disease . 40 Candidate Genes for FJHN and ADMCKD1 and 2 . 41 Genetic Heterogeneity in FJHN . 42 Treatment of the Hyperuricemic Nephropathies . 43 Other Genetic Studies of Gout . 44 Familial Calcium Pyrophosphate Dihydrate (CPPD) Deposition Disease . 44 Genetic Linkage Analyses in Familial CPPD Disease . 46 Candidate Genes for Familial CPPD Diseases . 46 Genetic Heterogeneity in Familial CPPD Disease . 48 Ank and CPPD Deposition Disease . 48 Familial Conditions Involving Basic Calcium Phosphate (Apatite) Crystals . 50 Analyses of Genetic Linkage and Candidate Genes in Familial Basic Calcium Phosphate Arthropathies . 51 Conclusions . 51 References . 52 4. Gout: Presentation, Natural History, and Associated Conditions . 61 N. Lawrence Edwards Introduction . 61 Stages of Classic Gout . 61 Less Classic Presentations of Gout . 68 Clinical Associates of Gout . 72 References . 76 5. Asymptomatic Hyperuricemia . 81 John Kanellis, Duk-Hee Kang, Daniel I. Feig, and Richard J. Johnson Introduction . 81 Uric Acid: Biochemistry . 82 The Uricase Gene is Mutated in Humans and in Other Hominoids . 83 Hyperuricemia in Humans: A Definition . 83 Hyperuricemia and the Risk of Gouty Arthritis, Calculi, and Nephropathy . 84 Contents vii Dietary and Physiological Factors that can Influence Serum Urate Levels . 85 Hyperuricemia is Associated with Hypertension, Vascular Disease, and the “Metabolic Syndrome” . 86 The Prognostic Significance of Serum Urate Levels . 87 Uric Acid: Beneficial or Harmful? . 88 Urate May Be a Useful Biomarker . 88 Urate and Endothelial Dysfunction . 89 Effects of Urate on Vascular Smooth Muscle . 90 Animal Models of Hyperuricemia . 91 Should Asymptomatic Hyperuricemia be Treated? . 92 Further Reading . 93 References . 93 6. Pseudogout: Presentation, Natural History, and Associated Conditions . 99 Ann K. Rosenthal Introduction . 99 Epidemiology . 100 Clinical Presentation . 101 Diagnosis . 104 Classification of CPPD Deposition Disease . 106 Conclusions . 111 References . 112 7. Clinical Manifestations of Basic Calcium Phosphate (Apatite) Deposition Disease . 117 Kanyakorn Jaovisidha and Lawrence M. Ryan Introduction . 117 Sporadic or Idiopathic BCP Crystal Deposition Disease . 117 Hereditary BCP Crystal Disease . 123 Systemic Diseases Associated with BCP Crystal Deposition . 126 Drug-Related
Load more

Recommended publications
  • Is Palindromic Rheumatism Amongst Children a Benign Disease? Yonatan Butbul-Aviel1,2,3, Yosef Uziel4,5, Nofar Hezkelo4, Riva Brik1,2,3,4 and Gil Amarilyo4,6*
    Butbul-Aviel et al. Pediatric Rheumatology (2018) 16:12 https://doi.org/10.1186/s12969-018-0227-z RESEARCHARTICLE Open Access Is palindromic rheumatism amongst children a benign disease? Yonatan Butbul-Aviel1,2,3, Yosef Uziel4,5, Nofar Hezkelo4, Riva Brik1,2,3,4 and Gil Amarilyo4,6* Abstract Background: Palindromic rheumatism is an idiopathic, periodic arthritis characterized by multiple, transient, recurring episodes. Palindromic rheumatism is well-characterized in adults, but has never been reported in pediatric populations. The aim of this study was to characterize the clinical features and outcomes of a series of pediatric patients with palindromic rheumatism. Methods: We defined clinical criteria for palindromic rheumatism and reviewed all clinical visits in three Pediatric Rheumatology centers in Israel from 2006through 2015, to identify patients with the disease. We collected retrospective clinical and laboratory data on patients who fulfilled the criteria, and reviewed their medical records in order to determine the proportion of patients who had developed juvenile idiopathic arthritis. Results: Overall, 10 patients were identified. Their mean age at diagnosis was 8.3 ± 4.5 years and the average follow-up was 3.8 ± 2.7 years. The mean duration of attacks was 12.2 ± 8.4 days. The most frequently involved joints were knees. Patients tested positive for rheumatoid factor in 20% of cases. One patient developed polyarticular juvenile idiopathic arthritis after three years of follow-up, six patients (60%) continued to have attacks at their last follow-up and only three children (30%) achieved long-term remission. Conclusions: Progression to juvenile idiopathic arthritis is rare amongst children with palindromic rheumatism and most patients continued to have attacks at their last follow-up.
    [Show full text]
  • Juvenile Spondyloarthropathies: Inflammation in Disguise
    PP.qxd:06/15-2 Ped Perspectives 7/25/08 10:49 AM Page 2 APEDIATRIC Volume 17, Number 2 2008 Juvenile Spondyloarthropathieserspective Inflammation in DisguiseP by Evren Akin, M.D. The spondyloarthropathies are a group of inflammatory conditions that involve the spine (sacroiliitis and spondylitis), joints (asymmetric peripheral Case Study arthropathy) and tendons (enthesopathy). The clinical subsets of spondyloarthropathies constitute a wide spectrum, including: • Ankylosing spondylitis What does spondyloarthropathy • Psoriatic arthritis look like in a child? • Reactive arthritis • Inflammatory bowel disease associated with arthritis A 12-year-old boy is actively involved in sports. • Undifferentiated sacroiliitis When his right toe starts to hurt, overuse injury is Depending on the subtype, extra-articular manifestations might involve the eyes, thought to be the cause. The right toe eventually skin, lungs, gastrointestinal tract and heart. The most commonly accepted swells up, and he is referred to a rheumatologist to classification criteria for spondyloarthropathies are from the European evaluate for possible gout. Over the next few Spondyloarthropathy Study Group (ESSG). See Table 1. weeks, his right knee begins hurting as well. At the rheumatologist’s office, arthritis of the right second The juvenile spondyloarthropathies — which are the focus of this article — toe and the right knee is noted. Family history is might be defined as any spondyloarthropathy subtype that is diagnosed before remarkable for back stiffness in the father, which is age 17. It should be noted, however, that adult and juvenile spondyloar- reported as “due to sports participation.” thropathies exist on a continuum. In other words, many children diagnosed with a type of juvenile spondyloarthropathy will eventually fulfill criteria for Antinuclear antibody (ANA) and rheumatoid factor adult spondyloarthropathy.
    [Show full text]
  • Calcinosis Cutis
    Dermatology Online Journal UC Davis Calcinosis cutis: A rare feature of adult dermatomyositis Inês Machado Moreira Lobo, Susana Machado, Marta Teixeira, Manuela Selores Dermatology Online Journal 14 (1): 10 Department of Dermatology, Hospital Geral de Santo António, Porto, Portugal. [email protected] Abstract Dermatomyositis is an idiopathic inflammatory myopathy with characteristic cutaneous manifestations. We describe a case of a 55- year-old woman with dermatomyositis who presented with dystrophic calcinosis resistant to medical treatment. Dermatomyositis is an idiopathic inflammatory myopathy with characteristic cutaneous manifestations, including heliotrope rash, Gottron papules, periungual telangiectasias, photodistributed erythema, poikiloderma, and alopecia. Although heliotrope rash and Gottron papules are specific cutaneous features, calcinosis of the skin or muscles is unusual in adults with dermatomyositis. However, it may occur in up to 40 percent of children or adolescents [1]. Calcinosis cutis is the deposition of insoluble calcium salts in the skin. Calcinosis cutis may be divided into four categories according to the pathogenesis as follows: dystrophic, metastatic, idiopathic, and iatrogenic. In connective tissue diseases, calcinosis is mostly of the dystrophic type and it seems to be a localized process rather than an imbalance of calcium homeostasis. Calcium deposits may be intracutaneous, subcutaneous, fascial, or intramuscular. Clinical synopsis A 55-year-old woman was referred for evaluation because of multiple, firm nodules of the lateral hips since 1994. At that time, dermatomyositis was diagnosed based on cutaneous, muscular and pulmonary involvement. The nodules, gradually enlarging since 1999, have begun to cause incapacitation pain and many exude a yellowish material suggestive of calcium. She denied an inciting traumatic event.
    [Show full text]
  • Atraumatic Bilateral Achilles Tendon Rupture: an Association of Systemic
    378 Kotnis, Halstead, Hormbrey Acute compartment syndrome may be a of the body of gastrocnemius has been result of any trauma to the limb. The trauma is reported in athletes.7 8 This, however, is the J Accid Emerg Med: first published as 10.1136/emj.16.5.378 on 1 September 1999. Downloaded from usually a result of an open or closed fracture of first reported case of acute compartment the bones, or a crush injury to the limb. Other syndrome caused by a gastrocnemius muscle causes include haematoma, gun shot or stab rupture in a non-athlete. wounds, animal or insect bites, post-ischaemic swelling, vascular damage, electrical injuries, burns, prolonged tourniquet times, etc. Other Conclusion causes of compartment syndrome are genetic, Soft tissue injuries and muscle tears occur fre- iatrogenic, or acquired coagulopathies, infec- quently in athletes. Most injuries result from tion, nephrotic syndrome or any cause of direct trauma. Indirect trauma resulting in decreased tissue osmolarity and capillary per- muscle tears and ruptures can cause acute meability. compartment syndrome in athletes. It is also Chronic compartment syndrome is most important to keep in mind the possibility of typically an exercise induced condition charac- similar injuries in a non-athlete as well. More terised by a relative inadequacy of musculofas- research is needed to define optimal manage- cial compartment size producing chronic or ment patterns and potential strategies for recurring pain and/or disability. It is seen in injury prevention. athletes, who often have recurring leg pain that Conflict of interest: none. starts after they have been exercising for some Funding: none.
    [Show full text]
  • Statin Myopathy: a Common Dilemma Not Reflected in Clinical Trials
    REVIEW CME EDUCATIONAL OBJECTIVE: Readers will assess possible statin-induced myopathy in their patients on statins CREDIT GENARO FERNANDEZ, MD ERICA S. SPATZ, MD CHARLES JABLECKI, MD PAUL S. PHILLIPS, MD Internal Medicine Residency Program, Robert Wood Johnson Clinical Scholars Department of Neurosciences, University Director, Interventional Cardiology, The University of Utah, Salt Lake City Program, Cardiovascular Disease Fellow, of California San Diego, La Jolla Department of Cardiology, Scripps Mercy Yale University School of Medicine, New Hospital, San Diego, CA Haven, CT Statin myopathy: A common dilemma not reflected in clinical trials ■■ ABSTRACT hen a patient taking a statin complains Wof muscle aches, is he or she experiencing Although statins are remarkably effective, they are still statin-induced myopathy or some other prob- underprescribed because of concerns about muscle toxic- lem? Should statin therapy be discontinued? Statins have proven efficacy in preventing ity. We review the aspects of statin myopathy that are 1 important to the primary care physician and provide a heart attacks and death, and they are the most guide for evaluating patients on statins who present with widely prescribed drugs worldwide. Neverthe- less, they remain underused, with only 50% of muscle complaints. We outline the differential diagnosis, those who would benefit from being on a statin the risks and benefits of statin therapy in patients with receiving one.2,3 In addition, at least 25% of possible toxicity, and the subsequent treatment options. adults who start taking statins stop taking them 4 ■■ by 6 months, and up to 60% stop by 2 years. KEY POINTS Patient and physician fears about myopathy There is little consensus on the definition of statin-in- remain a key reason for stopping.
    [Show full text]
  • Acute < 6 Weeks Subacute ~ 6 Weeks Chronic >
    Pain Articular Non-articular Localized Generalized . Regional Pain Disorders . Myalgias without Weakness Soft Tissue Rheumatism (ex., fibromyalgia, polymyalgia (ex., soft tissue rheumatism rheumatica) tendonitis, tenosynovitis, bursitis, fasciitis) . Myalgia with Weakness (ex., Inflammatory muscle disease) Clinical Features of Arthritis Monoarthritis Oligoarthritis Polyarthritis (one joint) (two to five joints) (> five joints) Acute < 6 weeks Subacute ~ 6 weeks Chronic > 6 weeks Inflammatory Noninflammatory Differential Diagnosis of Arthritis Differential Diagnosis of Arthritis Acute Monarthritis Acute Polyarthritis Inflammatory Inflammatory . Infection . Viral - gonococcal (GC) - hepatitis - nonGC - parvovirus . Crystal deposition - HIV - gout . Rheumatic fever - calcium . GC - pyrophosphate dihydrate (CPPD) . CTD (connective tissue diseases) - hydroxylapatite (HA) - RA . Spondyloarthropathies - systemic lupus erythematosus (SLE) - reactive . Sarcoidosis - psoriatic . - inflammatory bowel disease (IBD) Spondyloarthropathies - reactive - Reiters . - psoriatic Early RA - IBD - Reiters Non-inflammatory . Subacute bacterial endocarditis (SBE) . Trauma . Hemophilia Non-inflammatory . Avascular Necrosis . Hypertrophic osteoarthropathy . Internal derangement Chronic Monarthritis Chronic Polyarthritis Inflammatory Inflammatory . Chronic Infection . Bony erosions - fungal, - RA/Juvenile rheumatoid arthritis (JRA ) - tuberculosis (TB) - Crystal deposition . Rheumatoid arthritis (RA) - Infection (15%) - Erosive OA (rare) Non-inflammatory - Spondyloarthropathies
    [Show full text]
  • Soft Tissue Calcification and Ossification
    Soft Tissue Calcification and Ossification Soft-tissue Calcification Metastatic Calcification =deposit of calcium salts in previously normal tissue (1) as a result of elevation of Ca x P product above 60-70 (2) with normal Ca x P product after renal transplant Location:lung (alveolar septa, bronchial wall, vessel wall), kidney, gastric mucosa, heart, peripheral vessels Cause: (a)Skeletal deossification 1.1° HPT 2.Ectopic HPT production (lung / kidney tumor) 3.Renal osteodystrophy + 2° HPT 4.Hypoparathyroidism (b)Massive bone destruction 1.Widespread bone metastases 2.Plasma cell myeloma 3.Leukemia Dystrophic Calcification (c)Increased intestinal absorption =in presence of normal serum Ca + P levels secondary to local electrolyte / enzyme alterations in areas of tissue injury 1.Hypervitaminosis D Cause: 2.Milk-alkali syndrome (a)Metabolic disorder without hypercalcemia 3.Excess ingestion / IV administration of calcium salts 1.Renal osteodystrophy with 2° HPT 4.Prolonged immobilization 2.Hypoparathyroidism 5.Sarcoidosis 3.Pseudohypoparathyroidism (d)Idiopathic hypercalcemia 4.Pseudopseudohypoparathyroidism 5.Gout 6.Pseudogout = chondrocalcinosis 7.Ochronosis = alkaptonuria 8.Diabetes mellitus (b) Connective tissue disorder 1.Scleroderma 2.Dermatomyositis 3.Systemic lupus erythematosus (c)Trauma 1.Neuropathic calcifications 2.Frostbite 3.Myositis ossificans progressiva 4.Calcific tendinitis / bursitis (d)Infestation 1.Cysticercosis Generalized Calcinosis 2.Dracunculosis (guinea worm) (a)Collagen vascular disorders 3.Loiasis 1.Scleroderma
    [Show full text]
  • Axial Spondyloarthritis
    Central JSM Arthritis Review Article *Corresponding author Mali Jurkowski, Department of Internal Medicine, Temple University Hospital, 3401 North Broad Street, Axial Spondyloarthritis: Clinical Philadelphia, PA 19140, USA Submitted: 07 December 2020 Features, Classification, and Accepted: 31 January 2021 Published: 03 February 2021 ISSN: 2475-9155 Treatment Copyright Mali Jurkowski1*, Stephanie Jeong1 and Lawrence H Brent2 © 2021 Jurkowski M, et al. 1Department of Internal Medicine, Temple University Hospital, USA OPEN ACCESS 2Section of Rheumatology, Department of Medicine, Lewis Katz School of Medicine at Temple University, USA Keywords ABBREVIATIONS • Spondyloarthritis • Ankylosing spondylitis HLA-B27: human leukocyte antigen-B27; SpA: • HLA-B27 spondyloarthritis; AS: ankylosing spondylitis; nr-axSpA: non- • Classification criteria radiographic axial spondyloarthritis; ReA: reactive arthritis; PsA: psoriatic arthritis; IBD-SpA: disease associated spondyloarthritis; ASAS: Assessment of of rheumatoid arthritis [6]. AS affects men more than women SpondyloArthritis international Society; NSAIDs:inflammatory nonsteroidal bowel 79.6%, whereas nr-axSpA affects men and women equally 72.4% CASPAR: [7], independent of HLA-B27. This article will discuss the clinical for Psoriatic Arthritis; DMARDs: disease modifying anti- and diagnostic features of SpA, compare the classification criteria, rheumaticanti-inflammatory drugs; CD:drugs; Crohn’s disease; ClassificationUC: ulcerative Criteriacolitis; and provide updates regarding treatment options, including the ESR: erythrocyte sedimentation rate; CRP: C-reactive protein; developmentCLINICAL FEATURESof biologics and targeted synthetic agents. TNFi: X-ray: plain radiography; MRI: magnetic resonance imaging; CT: computed Inflammatory back pain tomography;tumor US: necrosis ultrasonography; factor-α wb-MRI:inhibitors; ESSG: European Spondyloarthropathy Study Group; IL-17i: whole-body MRI; JAKi: PDE4i: Inflammatory back pain is the hallmark of SpA, present in 70- 80% of patients [8].
    [Show full text]
  • Charcot Arthropathy: Differential Diagnosis of Inflammatory Arthritis
    CHARCOT ARTHROPATHY: DIFFERENTIAL DIAGNOSIS OF INFLAMMATORY ARTHRITIS CAMILA DA SILVA CENDON DURAN (USP-SP, SÃO PAULO, SP, Brasil), CARLA BALEEIRO RODRIGUES SILVA (USP-SP, SÃO PAULO, SP, Brasil), CARLO SCOGNAMIGLIO RENNER ARAUJO (USP-SP, SÃO PAULO, SP, Brasil), LUCAS BRANDÃO ARAUJO DA SILVA (USP-SP, SÃO PAULO, SP, Brasil), LUCIANA PARENTE COSTA SEGURO (USP-SP, SÃO PAULO, SP, Brasil), LISSIANE KARINE NORONHA GUEDES (USP-SP, SÃO PAULO, SP, Brasil), ROSA MARIA RODRIGUES PEREIRA (USP-SP, SÃO PAULO, SP, Brasil), EDUARDO FERREIRA BORBA NETO (USP-SP, SÃO PAULO, SP, Brasil) BACKGROUND Charcot-Marie-Tooth Disease (CMT) is the most common hereditary neuropathy, with an estimated prevalence of 40 cases per 100,000 individuals. CMT type 2, the most common subtype, is an axonal disorder, usually beginning during the second or third decade of life. Clinical features include distal weakness, muscle atrophy, reduced sensitivity, decreased deep tendon reflexes and deformity of the foot. It may lead to the development of Charcot arthropathy, with increased osteoclastic activity and joint destruction. Ultrasonography can show effusion, synovitis, high-grade doppler activity and bone irregularities, findings that can lead to a misdiagnosis of inflammatory arthritis. CASE REPORT Male, 27-year-old, reported a history of pain and warm swelling of the left ankle and midfoot, worsening after exercise and improving with rest, that started nine years ago and persisted for one year. During this period, he self-medicated with non-steroidal anti-inflammatory drugs. He denied associated symptoms such as ocular inflammation, skin lesions, diarrhea, urethritis or fever. Ten months ago, he began to present similar symptoms in right ankle and midfoot, after a 7-year asymptomatic period.
    [Show full text]
  • Variation in the Initial Treatment of Knee Monoarthritis in Juvenile Idiopathic Arthritis: a Survey of Pediatric Rheumatologists in the United States and Canada
    Variation in the Initial Treatment of Knee Monoarthritis in Juvenile Idiopathic Arthritis: A Survey of Pediatric Rheumatologists in the United States and Canada TIMOTHY BEUKELMAN, JAMES P. GUEVARA, DANIEL A. ALBERT, DAVID D. SHERRY, and JON M. BURNHAM ABSTRACT. Objective. To characterize variations in initial treatment for knee monoarthritis in the oligoarthritis sub- type of juvenile idiopathic arthritis (OJIA) by pediatric rheumatologists and to identify patient, physi- cian, and practice-specific characteristics that are associated with treatment decisions. Methods. We mailed a 32-item questionnaire to pediatric rheumatologists in the United States and Canada (n = 201). This questionnaire contained clinical vignettes describing recent-onset chronic monoarthritis of the knee and assessed physicians’ treatment preferences, perceptions of the effective- ness and disadvantages of nonsteroidal antiinflammatory drugs (NSAID) and intraarticular corticos- teroid injections (IACI), proficiency with IACI, and demographic and office characteristics. Results. One hundred twenty-nine (64%) questionnaires were completed and returned. Eighty-three per- cent of respondents were board certified pediatric rheumatologists. Respondents’ treatment strategies for uncomplicated knee monoarthritis were broadly categorized: initial IACI at presentation (27%), initial NSAID with contingent IACI (63%), and initial NSAID with contingent methotrexate or sulfasalazine (without IACI) (10%). Significant independent predictors for initial IACI were believing that IACI is more effective than NSAID, having performed > 10 IACI in a single patient at one time, and initiating methotrexate via the subcutaneous route for OJIA. Predictors for not recommending initial or contin- gent IACI were believing that the infection risk of IACI is significant and lacking comfort with per- forming IACI. Conclusion. There is considerable variation in pediatric rheumatologists’ initial treatment strategies for knee monoarthritis in OJIA.
    [Show full text]
  • Absolute Risk, 252 Acetabular Dysplasia, 38, 211, 213 Acetabular Protrusion, 38 Achondroplasia, 195, 197, 199–200, 205 Genetic
    Cambridge University Press 978-0-521-86137-3 - Palaeopathology Tony Waldron Index More information Index absolute risk, 252 angular kyphosis acetabular dysplasia, 38, 211, 213 in Scheuermann’s disease, 45 acetabular protrusion, 38 in tuberculosis, 93–4 achondroplasia, 195, 197, 199–200, 205 ankylosing spondylitis, 57–60, 65 genetic defect in, 199 ankylosis in, 58 skeletal changes in, 200 bamboo spine in, 59 acoustic neuroma, 229–31 erosions in, 59 acromegaly, 78, 207–8 first description, 57 and DISH, 208 HLA B27 58 and, skeletal changes in, 208 operational definition of, 59 acromelia, 198 prevalence of, 58 aDNA sacroiliitis and, 59 in leprosy, 101 skip lesions in, 59 in syphilis, 108 ankylosis, 51 in tuberculosis, 92, 95–6 following fracture, 146 Albers-Schonberg˝ disease, see in ankylosing spondylitis, 58 osteopetrosis in brucellosis, 96 Alstrom syndrome, 78 in DISH, 73 alveolar margin, see periodontal disease in erosive osteoarthritis, 55 amputation, 158–61 in rheumatoid arthritis, 51 indications for, 160–1 in septic arthritis, 89 ancient DNA, see aDNA in tuberculosis, 93–4 anaemia, 136–7 annulus fibrosus, 42–3, 45 cribra obitalia and, 136–7 ante-mortem tooth loss, 238–9 aneurysms, 224–7 and periodontal disease, 238–9 aortic, 224–5 and scurvy, 132 and syphilis, 224 causes of, 238 of vertebral artery, 225–6 anterior longitudinal ligament popliteal, 226 in ankylosing spondylitis, 59 aneurysmal bone cyst, 177 in DISH, 73 angiosarcoma, 182 anti-CCP antibodies, 49, 53 © Cambridge University Press www.cambridge.org Cambridge University Press
    [Show full text]
  • Approach to Polyarthritis for the Primary Care Physician
    24 Osteopathic Family Physician (2018) 24 - 31 Osteopathic Family Physician | Volume 10, No. 5 | September / October, 2018 REVIEW ARTICLE Approach to Polyarthritis for the Primary Care Physician Arielle Freilich, DO, PGY2 & Helaine Larsen, DO Good Samaritan Hospital Medical Center, West Islip, New York KEYWORDS: Complaints of joint pain are commonly seen in clinical practice. Primary care physicians are frequently the frst practitioners to work up these complaints. Polyarthritis can be seen in a multitude of diseases. It Polyarthritis can be a challenging diagnostic process. In this article, we review the approach to diagnosing polyarthritis Synovitis joint pain in the primary care setting. Starting with history and physical, we outline the defning characteristics of various causes of arthralgia. We discuss the use of certain laboratory studies including Joint Pain sedimentation rate, antinuclear antibody, and rheumatoid factor. Aspiration of synovial fuid is often required for diagnosis, and we discuss the interpretation of possible results. Primary care physicians can Rheumatic Disease initiate the evaluation of polyarthralgia, and this article outlines a diagnostic approach. Rheumatology INTRODUCTION PATIENT HISTORY Polyarticular joint pain is a common complaint seen Although laboratory studies can shed much light on a possible diagnosis, a in primary care practices. The diferential diagnosis detailed history and physical examination remain crucial in the evaluation is extensive, thus making the diagnostic process of polyarticular symptoms. The vast diferential for polyarticular pain can difcult. A comprehensive history and physical exam be greatly narrowed using a thorough history. can help point towards the more likely etiology of the complaint. The physician must frst ensure that there are no symptoms pointing towards a more serious Emergencies diagnosis, which may require urgent management or During the initial evaluation, the physician must frst exclude any life- referral.
    [Show full text]