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

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

Authors

Clair A. Francomano .Professor of Medical and Molecular Genetics at the Indiana University School of Medicine, Indianapolis, IN, United States .Chair of the Medical and Scientific Board of The Ehlers-Danlos Society, New York City, NY, United States.

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 J. Hakim . Rheumatologist at The Harley Street Clinic, HCA Healthcare, United Kingdom . Honorary consultant at University College London Hospitals, London, United Kingdom . Adjunct Associate Professor in Medicine at Penn State University, United States . Chief Medical Officer, Director of Research, and Director of Education at The Ehlers-Danlos Society, New York City, NY, United States. 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 G.S. Henderson Director of Research at the Metropolitan Neurosurgery Group, Silver Spring, MD, USA.

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 C. Henderson Sr. .Adjunct Clinical Professor of Neurosurgery at the University of Maryland School of Medicine, Baltimore, MD, United States .Director of The Metropolitan Neurosurgery Group, Silver Spring, MD, United States .Member of the Executive Committee of the Bobby Jones Chiari Syringomyelia Foundation, Staten Island, NY, United States .Member of the Medical and Scientific Board of The Ehlers-Danlos Society, New York City, NY, United States.

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.