Thyroid eye disease: diagnosis and treatment

486 Pages·2002·4.367 MB·English

by  Dutton, Jonathan J., Haik, Barrett G (eds.)

ISBN:0-8247-0771-0
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Preface
Graves’ disease has been known as a clinical entity for nearly 200 years. While there is
stillsome controversyabout whoshould be creditedwith itsformal medicaldescription,
it is clear that its clinical manifestations and associations were appreciated even in the
darkages.Yet,inspiteofitslonghistoryanditscommonoccurrence,untilthepastseveral
decades little was known about the etiology of this disorder. During the past 10 years,
more has been learned about this enigmatic disease than in the previous 165 years since
Graves and von Basedow published their descriptions.
ItisnowclearthatGraves’diseaseisoneofmanyautoimmunediseasesofuncertain
cause. Just why the complex immune surveillance system, which is designed to protect
the body from outside challenges, turns against self antigens is not firmly understood;
however, a variety of theories have been put forth, including cross-reactive activation
mediatedbysomeofthosesameoutsidechallenges,suchasviruses.Theimmuneprocess
is unusual in Graves’ and other such diseases because rather than causing destruction or
apoptosis of the target tissues, antibody-antigen interaction causes stimulation of target
cell protein synthesis through natural surface receptors. The target antigen is now estab-
lished as the TSH receptor of the thyrocyte, resulting in hyperthyroidism.
Another unusual feature of Graves’ disease is its association with manifestations
thatseemunrelatedtothetargettissue.InGraves’disease,thismostnotablyinvolvesthe
eyelid and orbital tissues and, less commonly, the pretibial dermis. It remains uncertain
just which antigens present the primary target of immune response in the orbit, but to
date the unique orbital fibroblast appears to be the principal candidate. As discussed in
this volume, TSH receptor proteins have been found to be associated with these cells.
Complicatingthispicturefurtheristhepresenceofadditionalantibodiesdirectedagainst
other orbital tissues, implicating both extraocular muscles and their connective tissue
sheaths in the process. While the exact role of these muscle antigens is not completely
understood,itiswellrecognizedthatmuscleinvolvementplaysamajorpartintheoverall
orbital changes seen in this disease.
Once the immune reaction spreads to involve the orbit, a variety of changes ensue
thatresultinbothcosmeticimpairmentandfunctionaldisability.Thesequenceofevents
is only just becoming clear, emerging from numerous immunological studies. Local in-
iii
iv Preface
flammation, alterations in cellular function, proliferation of cellular byproducts, and sec-
ondary anatomical changes all seem to play a role in the process.
This book is an attempt to update the current state of our knowledge of Graves’
disease.Wehaveinvited64scientistsfrom13countriesonfourcontinentstoparticipate
in the creation of this volume. These represent many of the foremost authorities in their
fields, whose research has contributed to the rapid expansion of our understanding of
Graves’ disease and its eye manifestations.
Because mostofthenewaccumulatingevidenceinvolvestheimmunologicalbasis
ofthediseaseanditsextrathyroidalmanifestations,wedevotemanychapterstothisaspect
ofthestory.InPartsIandII,wediscussgeneralaspectsofthethyroidgland,itsanatomy,
physiology,andclinicalevaluation.PartIIIcoverstheimmunesystem,thenatureofauto-
immune disease, self-tolerance, and the role of inflammatory molecules in the immune
process. In Part IV, we discuss a variety of factors in systemic Graves’ disease, such as
clinical features, environmental and genetic factors, its association with pregnancy and
otherimmunediseases,andradiationandsurgicaltreatments.PartVfocusesonareview
of Graves’ eye disease, the immunological mechanisms responsible for the eye changes,
theroleoftheorbitalfibroblast,associatedmuscleautoantibodies,changesinglycosami-
noglycansynthesis,therisksofsmokingandofradiotherapyofthethyroidgland,histolog-
icalchanges,clinicalmanifestations,anddiagnostictechniques.Finally,PartVIexplores
awidevarietyoftreatmentoptions,suchasexternalbeamirradiation,orbitaldecompres-
sion,repairofstrabismus,correctionofeyelidretraction,blepharoplasty,andsomeofthe
newer methods of cytokine modulation and soluble TSHR protein synthesis.
The terminology applied to the ophthalmic component of this disease has varied
considerablyovertimeandfromonegeographicregiontoanother.Morethan30different
nameshavebeenusedinthescientificliterature,mostcommonlyGraves’ophthalmopathy,
Graves’orbitaldisease,Graves’eyedisease,thyroideyedisease,thyroid-associatedoph-
thalmopathy, and endocrine ophthalmopathy. Among our authors, 10 different terms are
employed.Weinitiallyattemptedtostandardizethisbookbyutilizingasingleterm.How-
ever, it soon became clear that there was no definitive consensus on a preferred term,
even amongcoherent groups such as immunologists orophthalmologists. Italso became
clearthatnosingleworkcouldestablishastandardizedterminology,anddespitediverse
usage,mostworkersinterestedinthisdiseasehavebeenexposedtotheliteratureandare
comfortable with the various names that have been employed. In the end, we decided to
allow each author to use the terminology with which they were most comfortable.
While this volume summarizes our current state of knowledge of Graves’ disease
and its eye manifestations, new research is emerging daily. This book should be viewed
asan interim reportonly,subject to changeasnew evidenceispresented.However, itis
alreadyclearthatthenextdecadewillpresentnewopportunitiesfortreatmentandperhaps
prevention of this disease, based on immunological modulation interventions.
Weareindebtedtotheverymanyresearchers and clinicianswho havecontributed
to the growing understanding of Graves’ disease and its eye manifestations. In addition,
weextendourthankstoMaryE.Smithforherhelpineditingthemanuscripts,toRosalyn
Vuforherworkineditingandpreparingtheindex,andtoGreggGayre,M.D.,forhelping
to develop the initial concept of the book and editing the final proofs.
Jonathan J. Dutton
Barrett G. Haik
Contents
Preface iii
Contributors ix
Part I Introduction
1. Introduction 1
Barrett G. Haik and Jorge I. Calzada
2. The Eponymy of Exophthalmos Associated with Thyroid Disease 3
Edward C. Halperin and Brian Quaranta
Part II The Thyroid Gland
3. Surgical Anatomy of the Thyroid Gland 9
Mark K. Wax and James I. Cohen
4. Thyroid-Stimulating Hormone Receptor 19
Yuji Nagayama
5. Laboratory Evaluation of Graves’ Disease 29
Phillippa J. Miranda and Diana McNeill
Part III Autoimmunity
6. Basic Concepts of the Immune System 41
R. Christopher Walton
7. Mechanisms of Immune Self-Tolerance 51
Jacques F. A. P. Miller
v
vi Contents
8. Role of Inflammatory Mediators in Autoimmune Disease 65
Johannes M. Van Noort
9. Role of Cytokines in Autoimmune Disease 79
Luba Lopatinskaya, Natasha Nikolaeva, and Lex Nagelkerken
10. Role of Adhesion Molecules in Autoimmune Disease 91
Robert W. McMurray
Part IV Graves’ Disease
11. Overview of Graves’ Autoimmune Disease 97
Anthony P. Weetman
12. Systemic Manifestations of Graves’ Disease 107
Warner Burch
13. Genetics of Graves’ Disease 113
Ratnasingam Nithiyananthan and Stephen C. L. Gough
14. Environmental Factors in the Pathogenesis of Graves’ Disease 127
Thomas H. Brix and Laszlo Hegedu¨s
15. Graves’ Disease and Myasthenia Gravis 139
Michael Weissel
16. Pregnancy and Hyperthyroidism 143
Corinne R. Fantz and Ann M. Gronowski
17. Medical Treatment of Systemic Graves’ Disease 155
Jeffrey I. Mechanick
18. Radioactive Iodide Therapy for Graves’ Disease 171
Leslie J. DeGroot
19. Thyroidectomy for Graves’ Hyperthyroidism 185
Jin-Woo Park and Orlo H. Clark
Part V Thyroid Eye Disease
20. Overview of Thyroid Eye Disease: Immunological Mechanisms 199
Jonathan J. Dutton
21. Orbital Fibroblasts and the TSH Receptor in Graves’ Orbital Disease 207
Armin E. Heufelder and Werner Joba
22. Role of Orbital Fat in Thyroid-Associated Ophthalmopathy 215
Terry J. Smith
Contents vii
23. Eye Muscle Autoantibodies in Graves’ Orbital Disease 223
Masayo Yamada, Audrey Wu Li, Cheng-Hsien Chang, and Jack R. Wall
24. Glycosaminoglycans in Graves’ Orbitopathy 235
George J. Kahaly
25. The Risk of Orbital Disease Following Radioactive Iodine Treatment 243
Leif Tallstedt
26. Cigarette Smoking and Thyroid Eye Disease 251
Luigi Bartalena, Claudio Marcocci, and Aldo Pinchera
27. Orbital Anatomy and Graves’ Disease 261
Jonathan J. Dutton
28. Histopathology of Graves’ Orbital Disease 273
Alan D. Proia
29. Clinical Manifestations of Graves’ Ophthalmopathy 285
George B. Bartley
30. Orbital Imaging in Thyroid Eye Disease 301
Eli Chang, Matthew W. Wilson, and Mary E. Smith
31. Diagnostic Ultrasound in Graves’ Orbital Disease 309
J. Randall Hughes
32. Glaucoma in Thyroid Eye Disease 319
John S. King and Peter A. Netland
33. Optic Neuropathy in Thyroid Eye Disease 327
Richard D. Drewry, Jr.
Part VI Management of Thyroid Eye Disease
34. Medical Management of Thyroid Eye Disease 335
Gregg S. Gayre
35. External Beam Radiotherapy for Thyroid Eye Disease 347
Carol A. Hahn and Edward C. Halperin
36. Orbital Decompression: An Overview 357
Robert A. Goldberg
37. Fat-Only Decompression for Graves’ Orbital Disease 379
Brian J. Willoughby and Michael Kazim
viii Contents
38. PracticalManagementofStrabismusandDiplopiainThyroidEyeDisease 389
Natalie C. Kerr
39. Botulinum Toxin for Eyelid Retraction in Graves’ Disease 405
Matthew D. Gearinger and Albert W. Biglan
40. Surgical Management of Eyelid Retraction in Thyroid Eye Disease 413
Jonathan J. Dutton
41. Blepharoplasty in Graves’ Disease 423
Stephen J. Laquis, Barrett G. Haik, and James C. Fleming
42. Somatostatin in the Treatment of Thyroid Eye Disease 433
G. E. Krassas
43. Pentoxifylline in the Management of Thyroid Eye Disease 441
Csaba Bala´zs
44. Engineering a Soluble Human Thyroid-Stimulating Hormone Receptor
Protein 449
Gregorio D. Chazenbalk
Index 457
Contributors
CsabaBala´zs,D.Sc. IIIDepartmentofMedicine,Kene´zyTeachingHospital,Debrecen,
Hungary
Luigi Bartalena, M.D. Department of Clinical and Biological Science, University of
Insubria, Varese, Italy
GeorgeB.Bartley,M.D. DepartmentofOphthalmology,MayoClinicandMayoMedi-
cal School, Rochester, Minnesota, U.S.A.
Albert W. Biglan, M.D. Department of Ophthalmology, University of Pittsburgh
School of Medicine, Pittsburgh, Pennsylvania, U.S.A.
ThomasH.Brix,M.D.,Ph.D. DepartmentofEndocrinology,OdenseUniversityHospi-
tal, Odense, Denmark
WarnerBurch,M.D. DepartmentofMedicine,DukeUniversityMedicalCenter,Dur-
ham, North Carolina, U.S.A.
JorgeI.Calzada,M.D. DepartmentofOphthalmology,UniversityofTennesseeHealth
Science Center, Memphis, Tennessee, U.S.A.
Cheng-Hsien Chang, M.D. Department of Medicine, Dalhousie University, Halifax,
Nova Scotia, Canada
Eli Chang, M.D. Department of Ophthalmic Plastic, Orbital and Cosmetic Surgery,
Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A.
Gregorio D. Chazenbalk, Ph.D. Cedars-SinaiMedical Center and University of Cali-
fornia, Los Angeles, California, U.S.A.
ix