Symptomatic: The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders

**Selected for 2025 Doody’s Core Titles® in Rheumatology** Symptomatic: The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders offers a novel approach to the subject, structured around the panoply of symptoms those with Ehlers-Danlos syndromes and hypermobility spectrum disorders may describe to their clinicians. The content is arranged intuitively from head to feet. Each chapter integrates a clinical case study with a concise discussion and two important tools: a simplified algorithm for diagnosing and managing each symptom; and differential diagnoses (i.e. alternative explanations) for the symptoms. Combining the expertise of some 70 leading clinicians representing more than 30 specialties, the content is suited for clinicians who need a concise presentation of the various and complex symptoms they confront in their practice. It also aims to inform and empower patients, helping them understand the nature of these concerns and their management. This handbook advances an integrative understanding of this emerging interdisciplinary field, bridging the gaps between the several dozen specialties germane to EDS and HSD.

Table of Contents:
1. Introduction PART I - SYSTEMIC SYMPTOMS Section I.I - General 2. Joint hypermobility and pain 3. Chronic Widespread Pain 4. Widespread pain in childhood 5. Myofascial Pain 6. Multiple unexplained symptoms 7. Itchy rash and general malaise Section I.II - Fatigue 8. Fatigue 9. Brain fog Section I.III - Skin 10. Stretched, unsightly scars 11. Bruising and bleeding 12. Poor wound healing 13. Repeated joint dislocation and bruising PART II - HEAD AND NECK Section II.I - Psychological health 14. Anxiety 15. Depression 16. Posttraumatic stress 17. Attention difficulties 18. Loneliness and social isolation Section II.II - Head and neck 19. Postural Headache 20. Persistent pressure headache 21. Cough-induced headache 22. Excruciating headache on the side of the head 23. Headache with shaking episodes and "brain fog" 24. Skull-base headache with intermittent burning limb pain 25. Fainting, headache, and "bobble head" 26. Pressure headache and blurry vision 27. Head, neck, and shoulder pain 28. Headache with pain and stiffness in the neck 29. Migraine Section II.III - Eyes 30. Difficulty reading 31. Blurry and double vision Section II.IV - Mouth and voice 32. Temporomandibular joint (TMJ) pain and headache 33. Gum bleeding and early tooth loss 34. Difficulty swallowing 35. Voice change PART III - TORSO Section III.I - Upper and lower back 36. Upper back pain 37. Low back pain 38. Progressive leg weakness and urinary incontinence 39. Sacral and buttock pain Section III.II - Rib cage 40. Posterior rib cage pain 41. Chest wall pain Section III.III - Lungs 42. Shortness of breath 43. Still tired after sleeping Section III.IV - Heart and cardiovascular system 44. Palpitations 45. Feeling shaky with palpitations 46. Severe abdominal pain and a cold leg Section III.V - Abdomen 47. Abdominal pain and feeding intolerance in a child 48. Chronic constipation and nausea in a child 49. Failure to thrive in a young child 50. Heartburn and feeling full, even after a small meal 51. Stomach pain and reflux failing medical management 52. Sluggish stomach 53. Persistent nausea 54. Severe constipation 55. Severe abdominal pain after eating, and weight loss 56. Stomach and midback pain with eating Section III.VI - Pelvis 57. Bladder pain with urinary frequency and urgency 58. Bulging of the bladder and vagina, with difficulty urinating 59. Rectal bulging, hemorrhoids, and difficulty emptying the bowel PART IV - LIMBS Section IV.I - Movement disorders 60. Twitching 61. Uncontrolled spasms triggered by exercise Section IV.II - Shoulder / upper limb 62. Neck pain and tingling in the arm and hand 63. Shoulder pain and/or instability 64. Painful shoulder blade 65. Intermittent pain and weakness in the arm and hand 66. Pain in the hands and reduced grip strength 67. Pain and weakness in the forearm, wrist and hand Section IV.III - Lower limb 68. Hip Pain 69. Wobbly kneecap and a painful knee 70. Swelling and redness in both feet 71. Leg swelling and pain 72. Weakness and painful numbness in the arms and legs 73. Burning pain in the feet 74. Foot pain and repeated ankle sprains 75. Painful heels, and tired and clumsy feet

About the Author :
Clair Francomano received her M.D. degree from Johns Hopkins University School of Medicine and completed her training in Internal Medicine and Medical Genetics at Johns Hopkins. She served on the full-time faculty at Johns Hopkins, and then as Clinical Director for the National Human Genome Research Institute at the National Institutes of Health, where she was also Chief of the Medical Genetics Branch and directed the residency program in Medical Genetics. Subsequently, she became Director of Adult Genetics at the Harvey Institute for Human Genetics in Baltimore. In 2019, she became Professor of Medical and Molecular Genetics and Director of the Residency Training Program in Medical Genetics at Indiana University School of Medicine. Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome and other Heritable Disorders of Connective Tissue throughout her career. She served on the Professional Advisory Board for the Marfan Foundation and is a long-standing member of the Medical Advisory Board for the Little People of America. She has been a member of the Medical and Scientific Board of the Ehlers-Danlos Society since 2016 and is currently Chair of that Board. From 2021-22, Dr. Francomano was a member of the Committee on Selected Heritable Connective Tissue Disorders and Disability for the National Academies of Science, Engineering and Medicine. She serves on the Steering Committee for the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Alan Hakim received his bachelor’s and master’s degrees in medical sciences from Cambridge University and completed his training in Internal Medicine at Addenbrooke’s Hospital, Cambridge, and Rheumatology training at University College London Hospitals (UCLH), London UK. He received his consultant certification and fellowship from the Royal College of Physicians, UK in 2000 and 2005, respectively, and gained postgraduate certification in Translational Medicine from Edinburgh University in 2011. As a senior researcher, consultant, and clinical director he has practiced at Guy’s and Thomas’ Hospital, and Whipps Cross Hospital and Barts Health NHS Trust, London. He currently practices at The Harley Street Clinic, HCA Healthcare UK and is an honorary consultant in research at UCLH, London. He is also an Adjunct Associate Professor in Medicine, The School of Medicine, Hershey, Penn State, USA. Publishing widely in research and education, Dr. Hakim has co-authored and edited five other medical books and contributed many chapters and articles to major textbooks and online resources in Rheumatology and Internal Medicine. With several decades’ commitment to charitable organizations, most recently his focus has been support of the Ehlers-Danlos Society as their Chief Medical Officer, Director of Education and Director of Research, and Lead for their EDS ECHO portfolio. As a member of the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, he sits on the consortium Steering Committee and has chaired its Working Group on Hypermobile EDS/HSD since 2018. Lansdale Henderson earned his bachelor’s degree with distinction in neuroscience as an Echols Scholar at the University of Virginia. He studied adult neurogenesis in laboratories at the University of Virginia School of Medicine, the National Institutes of Health, and the Pasteur Institute, co-authoring publications in the Journal of Neuroscience and elsewhere. He engaged with health and science policy as a John Jay Fellow for two U.S. Senators and subsequently staffed the Maryland Senate President. He earned honors for his thesis in political philosophy at St. John’s College Graduate Institute, and a second master’s degree from the Johns Hopkins School of Advanced International Studies (SAIS), including coursework as the Longvue Fellow at the Paris School of International Affairs (Sciences Po). Since 2020, he has co-founded two pre-clinical biotech startups while serving as Director of Research for The Metropolitan Neurosurgery Group. Fraser Henderson, Sr. earned his degree in medicine at the University of Virginia. During his tour with the United States Navy, he was decorated for treatment of mass casualties during the 1983 Beirut terrorist bombings. He completed his residency as Chief Resident at the Medical University of South Carolina, then served as Director of Neurosurgery at the Veterans Medical Center in Charleston, South Carolina, before returning to active duty as Director of Neurosurgery of the Craniocervical Junction and Spine at the National Naval Medical Center, Bethesda. He deployed as Neurosurgeon to the 4th Marine Expeditionary Brigade during the Desert Shield/Desert Storm campaigns of the First Gulf War (1990-91). Commander Henderson was then the International Fellow for Craniospinal Surgery at The National Hospitals for Neurology and Neurosurgery, Queen Square, London. Recruited to Georgetown University as Director of Neurosurgery of the Craniocervical Junction and Spine, he later served as Co-Director of Neuro-Oncology, and was promoted to Professor of Neurosurgery and Associate Professor of Radiation Medicine in 2005. Entering private practice in 2008, he became Director of The Metropolitan Neurosurgery Group and Chief of Neurosurgery at Doctor’s Community Hospital. He is now Adjunct Clinical Professor of Neurosurgery at the University of Maryland Capital Region Medical Center. He serves on both the Executive Committee of the Bobby Jones Chiari Syringomyelia Foundation and the Medical and Scientific Board of The Ehlers-Danlos Society. He has published extensively on neurological and spinal disorders, co-edited four books regarding the craniocervical junction and Ehlers-Danlos syndromes, and he has hosted numerous conferences to promote understanding of these issues.

Review :
"...aims to educate medical providers and affected patients by presenting a wide spectrum of symptoms of these disorders and case discussion. [Also] bridges the gaps between the numerous specialties are relevant to treatment of EDS and HSD. [P]rimary audience is clinicians who encounter patients with a wide array of symptoms, [and] will also be beneficial for patients who suffer from these disorders.... What sets this book apart is its unique teaching style [which] presents the topics by symptoms and analyzes and discusses the subject matters by case presentations. Most chapters end with diagnostics and treatment algorithms which is a valuable take-home summary. [A] comprehensive review of Ehlers-Danlos syndrome and hypermobility spectrum disorder. This unique collection covers all aspects of these disorders. The symptomatic-based approach of this book makes this collection a unique resource for the target audience." --©Doody’s Review Service, 2024, Massoud Mahmoudi, DO, PhD (University of California San Francisco)