Hypermobility of Joints

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2 Peter Beighton. Rodney Grahame. Howard Bird Hypermobility of Joints Second Edition With 71 Figures Foreword by Professor Eric Bywaters Co-ordinating Editor (Second Edition): Rodney Grahame Springer-Verlag Berlin Heidelberg GmbH

3 Peter Beighton, MD, PhD, FRCP, DCH Professor of Human Genetics and Director, MRC Research Unit for Inherited Skeletal Disorders, Medical School and Groot Schuur Hospital, University of Cape Town, South Africa Rodney Grahame, MD, FRCP, FACP Consultant Rheumatologist, Rheumatology Unit, Division of Medicine, United Medical and Dental Schools, Guy's Hospital, London SEl 9RT, UK Howard Bird, MD, MRCP Senior Lecturer and Consultant Rheumatologist, University of Leeds, and Clinical Pharmacology Unit (Rheumatism Research), Royal Bath Hospital, Harrogate HGl2PS, UK ISBN British Library Cataloguing-in-Publication Data Beighton, Peter Hypermobility of joints. - 2nd ed. 1. Man. Joints. Hypermobility I. Title II. Grahame, Rodney, III. Bird, Howard, '2 ISBN ISBN (ebook) DOI / Library of Congress Cataloging-in-Publication Data Beighton, Peter Hypermobility of joints. Includes bibliographies and index. 1. Joints-Hypermobility. I. Grahame, Rodney, II. Bird, H. A. (Howard Anthony), III Title. [DNLM: 1. Joint Instability. WE 300 B422h] RC933.B ' ISBN This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, re-use of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data bank Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9,1965, in its version ofjune 24, 1985, and a copyright fee must always be paid. Violations fall under the prosecution act of the German Copyright Law. by Springer-Verlag Berlin Heidelberg 1983,1989 Originally published by Springer-Verlag Berlin Heidelberg New York in 1989 The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product Liability. The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. Reset by Goodfellow and Egan Ltd, Cambridge

4 Foreword to the Second Edition A foreword is scarcely necessary for a second edition: res ipsa loquitur. The original monograph, on a rather recondite subject given only one line in the Rheumatology and Orthopedics section of the new International Classification of Diseases (ILAR 1985), obviously not only met public and professional demand but has stimulated it. Indeed, the subject has progressed very considerably in terms of not only basic knowledge (with the exception perhaps of elastin, which now merits only one paragraph, or fibronectin), but also clinical diversity and even extension (not hyperextension!). The contributions of three more specialists in, respectively, heart, arteries and teeth are now included. (Don't nails go with teeth, claw and fur - where are the keratin and elastin analogues?) In addition, progress - to which we seem for the most part to be dedicated or addicted - always involves changes in emphasis, and these are exemplified here. As John F. Kennedy said, "The one unchangeable certainty is that nothing is certain or unchangeable". The enormous progress in genetic and biochemical characterization finds adequate expression in this new edition. Even the possibilities of genetic engineering or fibroblastic manipulation are hinted at. To quote A. N. Whitehead, "the art of progress is to preserve order amid change"; this, in a predominantly clinical book, the authors have done. One of the most fascinating chapters, that on the performing arts, has increased its number of references from 10 in the first edition to 49 in this one, with 25 post So history as well as progress is being rewritten, as it always will be, given a non-nuclear future.

5 Reference ILAR (1985) ICD R & 0 an application of the International Classification of Diseases to Rheumatology and Orthopedics USA and including the International Classification of Musculoskeletal Disorders (ICMSD). International League Against Rheumatism, New York, reference May 1989 E. G. L. Bywaters CBE, FRCP, FACP, FRCP (Canada) Emeritus Professor of Rheumatology Royal Postgraduate Medical School of London

6 Foreword to the First Edition Although those of us (and particularly orthopaedists and rheumatologists) who deal with locomotor diseases in man are concerned mainly with stiffness and limitation of movement - affecting not only livelihood but also the quality of life - from time to time we see patients suffering from too much of a good thing, whose joints are too freely mobile for the good of the whole person. In most instances, at least in youth, the benefit outweighs the debit. Many hypermobile people in the performing world - ballet dancers, circus gymnasts, musicians and sportsmen and women - have delighted audiences over 20 centuries with their unusual ability, prowess and postures. Some types of acquired hypermobility can, however, be disadvantageous, an example being tabes dorsalis with its flaccid joints and perhaps pain as well. In a similar way the restored-to-normal mobility of treated rheumatoid patients (whether by prednisone or longer-term drugs such as penicillamine or gold) must be considered abnormal - as hypermobility for that patient which in the long-term may hasten secondary arthrotic changes. This treatise deals, however, with the abnormally mobile, either as an effect of inherited connective tissue abnormality or as one end of the normal range of mobility, without any obvious connective tissue change. It comes at a fecund time in our knowledge of the intricacies of the collagen molecule, with intriguing questions concerning the development of local typespecific structures. The fibroblast may yet expand to the same diversity as the once humble lymphocyte. I first encountered this generalised "hypermobility syndrome" in a young doctor in 1950 (Kirk et al. 1967) and by the 1960s the syndrome (for that is all it is) had become well known. These patients had often been passed from doctor to doctor, from one consultant to another, with no relief, no understanding and no diagnosis other than "fibrositis" or its more modem 1960s equivalent, "psychogenic rheumatism". Although there was nothing that could pass as a cure, we found that explana-

7 viii Foreword tion to the patient of the nature of his pains was of very considerable value and in itself therapeutic. The authors of this book have each contributed in large measure to our modem knowledge of this field; here the various aspects of hypermobility (or hyperlaxity) are brought together for the first time, covering a surprisingly wide field: not only heritable diseases involving collagen assembly (whose present position is well stated) and elastin (about which much less is known) but also genetic, developmental, social, occupational, cardiovascular and locomotor aspects, even if we know little about them yet. Fields for further exploration abound. Ethnic differences are very obvious but few population comparisons have been made: the literature is full of unascertained guesswork ("Perhaps hence the apparent pre-eminence of Egyptians in belly-dancing" (Bywaters 1980». No mention is made of animal models - perhaps not yet observed, but a powerful help in other fields. There is still opportunity for further prospective clinical research in regard to the long-term course and complications of this anomaly. Finally, since hypermobility is common with us and commoner still in other races, we need to know what effect it has on the course and severity of other locomotor diseases, such as rheumatoid arthritis, other cardiovascular problems, such as mitral valve prolapse, and (still unexplored) eye-ball and tooth changes needing inter- and intraracial comparisons. I congratulate the authors for providing an up-to-date platform to encourage further exploration of a potentially rich field. References Bywaters EGL (1982) Mobility with rigidity: a view of the spine. Ann Rheum Dis 41: Kirk JH, Ansell BM, Bywaters EGL (1967) The hypermobililty syndrome. Ann Rheum Dis 26: January 1983 Professor E. G. L. Bywaters CBE, FRCP, FACP, FRCP (Canada) Emeritus Professor of Rheumatology Royal Postgraduate Medical School of London

8 Preface to the Second Edition In the 6 years that have elapsed since the publication of the first edition there has been increasing interest in the subject of joint hypermobility amongst clinicians, epidemiologists and basic scientists. This is evidenced by the encouragingly large number of papers that have been published in scientific medical journals the world over. We feel that it is now timely to produce a second edition in order to expound the present state of knowledge and to review recent developments. The basic size and format of the book are unchanged, but recent advances have prompted us to place greater emphasis on the scientific basis of hypermobility. In particular, the relevant fields of biochemistry, clinical and molecular genetics have made great strides (even leaps!) in recent years. To cover these areas we welcome three new major contributors, Drs Wilson Harvey, Anne Child and Adriano Henney. The chapter on biomechanics has also been enlarged. We have not neglected the clinically orientated sections; extensive reference has been made to the substantial new literature relating to clinical studies; the chapter on management has been considerably expanded and the section on hypermobility and the performing arts has been thoroughly revised. In order to accommodate the new material, cuts have had to be made. These have fallen on the chapter on case histories, the number of which has been reduced (with some new additions), and on the section on the inherited hypermobility syndromes, which took up a little over one quarter of the first edition. Our book has been redesigned to provide a comprehensive yet brief ready-reference of information on all (even the rarest) heritable disorders featuring joint hypermobility. What point has understanding of joint hypermobility reached in the past 6 years? There is now (almost) universal acceptance of the fact that joint hypermobility is but one feature common to a heterogeneous group of generalised hereditary connective tissue disorders. There is convincing biochemical evidence to incriminate collagen as the likely site of the basic

9 x Preface defect but to date, except for osteogenesis imperfecta and rare forms of Ehlers-Danlos syndrome, mutations of structural collagen genes have not been identified. There has been little further progress in the assessment of hypermobility in the clinical or epidemiological setting. The ever-popular nine-point hypermobility score continues to flourish - perhaps because it is so simple and practical! Clinicians are becoming more aware of hypermobility. Current management still leaves much to be desired, but even here our understanding and capability is undoubtedly increasing. Joint hypermobility, once a clinical curiosity, has at last become scientifically respectable; 21 years after the appearance of the classic paper by Kirk, Ansell and Bywaters in 1967, joint hypermobility has "come of age"! January 1989 Peter Beighton Rodney Grahame Howard Bird Acknowledgements We thank all those who have provided assistance: R.A. de Meneaud for preparing the illustrations Colleagues who have facilitated or been directly involved in our investigations, notably Professors George Dall, Louis Solomon and Verna Wright Colleagues whose advice on the chapter on management has been invaluable, notably Messrs Frank Horan and Michael Watson and Mrs Anna Edwards Many physicians, surgeons and general practitioners who over the years, knowing of our interest have referred patients with hypermobility of joints The Arthritis and Rheumatism Council for Research in Great Britain and the Commonwealth, the Medical Research Council of South Africa and the University of Cape Town Staff Research Fund for financial support for investigations related to hypermobility Michael Jackson of Springer-Verlag for his encouragement and tolerance. A. Henney and A. Child are grateful to the Arthritis and Rheumatism Council and the British Heart Foundation for supporting work in their laboratories.

10 Preface to the First Edition Persons with an excessive range of joint movements are regarded as being "hypermobile" and it is becoming increasingly apparent that joint laxity is of considerable importance in clinical practice. Our purpose in writing this book is to combine our longstanding interests in different facets of hypermobility in an up-to-date review of the subject as a whole. It has been argued that the word "hypermobility" is inaccurate in its medical context and that it should be replaced by "hyperlaxity" or "hyperextensibility". However, for the sake of clarity we have adhered to the terminology used in previous publications and we have employed these terms interchangeably. Semantic and nosological problems also exist concerning the designation of "hypermobility syndrome". In rheumatological practice the term is applied in a general sense to any loosejointed patient with musculoskeletal symptoms. A small proportion of these persons have well-defined genetic disorders, but in the majority no specific syndromic diagnosis can be made. There is controversy as to whether these individuals represent the upper end of the normal spectrum of articular movements, or whether they have a distinct, but pool:ly differentiated, collagen disorder. This problem is discussed at appropriate points in the text. We have described the existing clinical and biometrical methods for assessment of the range of joint movements in individuals and populations, and have discussed the practical application of these techniques. The pathogenesis of hypermobility is bound up with the structure and function of connective tissue and we have therefore given a simple outline of the relevant histopathology, collagen chemistry and biomechanics. Hypermobility is important in rheumatological practice because excessive joint laxity produces a wide variety of articular complications. Hypermobility also has special implications for many fields of activity, including sport and the performing arts. In the genetic context joint laxity is a component of numerous

11 xii Preface heritable syndromes. Although individually rare, these disorders are collectively not uncommon and they are reviewed in the final chapters. We have written this book because we believe that the time is ripe for the existing knowledge concerning articular hypermobility to be presented in a comprehensive manner. We hope that our work will be of interest to rheumatologists and orthopaedic surgeons, but, loosely speaking, this book contains information for internists and colleagues in many other disciplines, including medical genetics, paediatrics, physiotherapy, collagen chemistry and bioengineering. January 1983 Peter Beighton Rodney Grahame Howard Bird

12 Contents 1. Introduction to Hypermobility... 1 Historical Background... 1 Development of Concepts Concerning Rheumatological Manifestations... 2 Extra-articular Manifestations of Hypermobility... 3 Late Effects of Hypermobility... 3 Measurement of Joint Hypermobility... 4 Syndromic Associations of Joint Hypermobility... 5 Nosology of the Hypermobility Syndromes... 5 References Assessment of Hypermobility Simple Scoring Systems for Hypermobility General Principles of More Precise Measurement at Selected Joints Back and Spinal Mobility Rotation in the Limbs Movement at the Metacarpophalangeal Joint Correlations Between Scoring Systems Used in Assessing Joint Laxity Variation of Joint Laxity Within Populations Joint Hypolaxity References Biochemistry of Joint Hypermobility Collagen Biosynthesis Fibre Assembly Mechanical Properties Glycosaminoglycans and Proteoglycans Biochemical Defects and Joint Hypermobility Connective Tissue Degradation References

13 xiv Contents 4. Biomechanics of Hypermobility: Selected Aspects 41 Mechanical Factors in Joint Mobility Relative Contributions of Different Factors Bony Surfaces Collagen Neuromuscular Control Lubrication and Stiffness Lubrication of the Synovial Membrane Measurement of Stiffness Artificial Lubricants Hypermobility and Osteoarthritis Prospects for Surgical Intervention References Genetic Aspects of the Hypermobility Syndrome Clinical Genetics Molecular Genetics Gene Structure Restriction Fragment Length Polymorphisms Segregation Analysis References Clinical Features of Hypermobility: Locomotor System and Extra-articular Prevalence Role of Lax Ligaments Clinical Manifestations Articular Features Arthralgia and Myalgia Soft Tissue Lesions Chondromalacia Patellae Acute Articular and Periarticular Traumatic Lesions.. 69 Chronic Polyarthritis or Monoarticular Arthritis Dislocation of Joints Temporomandibular Joint Dysfunction Premature Osteoarthritis Spinal Complications Bone Fragility Idiopathic Protrusio Acetabuli Habitus Non-articular Manifestations of Hypermobility Skin Cardiovascular System Cere bral Aneurysms Visceral Complications Changes in Pregnancy... 78

14 Contents xv Acquired Hypermobility Isolated Acquired Hypermobility Generalised Acquired Hypermobility Hypermobility and the Arthritides Ankylosing Spondylitis Rheumatoid Arthritis Osteoarthritis References Management of Articular Complications in the Hypermobility Syndrome General Management Specific Management Rest Local Steroid Injection Physiotherapy Surgical Intervention Symptomatic Treatment Analgesic and Non-Steroid Anti-inflammatory Drugs Physiotherapy, Hydrotherapy and Water Immersion 95 Behavioural Techniques Acupuncture and Transcutaneous Neural Electrical Stimulation Denervation Procedures References Illustrative Case Histories Hypermobility in the Performing Arts and Sport Ballet Dancers Are Ballet Dancers Born or Made? Is Generalised Joint Laxity an Asset or a Liability in Ballet Dancing? Contortionists Historical Background Nosology and Semantics Training Socio-medical Implications Musicians Occupational Ills of Instrumentalists Illustrative Case Histories Repetitive Strain Syndrome Sport Joint HypermobiIity in Selected Sports Hypermobility and Injury

15 xvi Contents Training Methods to Improve Joint Flexibility References Ballet Dancers Musicians Sport Heritable Hypermobility Syndromes Ehlers-Danlos Syndrome General Features Nosology Articular Manifestations Surgical Management of Articular Problems Non-articular Complications Familial Articular Hypermobility Syndromes Nosology Articular Complications Other Phenotypic Manifestations Miscellaneous Joint Laxity Syndromes Joint Laxity in Inherited Connective Tissue Disorders Skeletal Dysplasias with Predominant Joint Laxity Dwarfing Dysplasias with Variable Joint Laxity Genetic Syndromes in which Hypermobility is Overshadowed by Other Manifestations Bibliography Ehlers-Danlos Syndrome Familial Articular Hypermobility Syndromes Miscellaneous Joint Laxity Syndromes SubjectIndex

16 Contributors P.H. Beighton MRC Research Unit for Inherited Skeletal Disorders Medical School and Groot Schuur Hospital University of Cape Town, South Africa H. Bird University of Leeds, and Clinical Pharmacology Research Unit (Rheumatism Research) Royal Bath Hospital, Cornwall Road Harrogate HG12PS, UK Anne H. Child Cardiological Sciences, St George's Hospital Cranmer Terrace, London SW17 ORE, UK R.Grahame Rheumatology Unit, Division of Medicine United Medical and Dental Schools Guy's Hospital, London SE19RT, UK W.Harvey Department of Oral Surgery, Institute of Dental Surgery Gray's Inn Road, London WCIX 8LD, UK A.M. Henney Arterial Diseases Group, Charing Cross Sunley Research Centre Lurgan Avenue, Hammersmith, London W6 8LW, UK