
Symptomatic
The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders
- 1st Edition - December 5, 2023
- Imprint: Elsevier
- Editors: Clair A. Francomano, Alan J. Hakim, Lansdale G.S. Henderson, Fraser C. Henderson Sr.
- Language: English
- Paperback ISBN:9 7 8 - 0 - 3 2 3 - 9 5 0 8 2 - 4
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 5 0 8 3 - 1
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 sy… Read more

Purchase options

Institutional subscription on ScienceDirect
Request a sales quoteSymptomatic: 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.
- A comprehensive compendium of the symptoms of EDS and HSD to aid clinicians and patients
- Symptom-based chapters for ease of making a diagnosis
- A case report, differential diagnosis, discussion, and diagnostic and treatment algorithm for each symptom
- Cover image
- Title page
- Table of Contents
- Copyright
- Dedication
- Contributors
- About the editors
- Foreword
- Preface
- Acknowledgments
- Chapter 1 Introduction: An overview of the Ehlers-Danlos syndromes and hypermobility spectrum disorders
- References
- Part I: Systemic Symptoms
- Section I.I: General
- Chapter 2 Generalized joint hypermobility and pain: When generalized joint hypermobility changes from an asset to a health concern
- Editors' general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Chapter 3 Chronic widespread pain: The holistic assessment and treatment approach in chronic widespread pain
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 4 Widespread pain in childhood: Hypermobile children may have multiple sources of pain
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 5 Myofascial pain: Myofascial knee pain in a young woman with hypermobile Ehlers-Danlos syndrome
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Further reading
- Chapter 6 Multiple unexplained symptoms: Living with multisystemic connective tissue complications in the absence of a known pathogenic gene variant
- Editors’ general comments
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 7 Itchy rash and general malaise: Multiple seemingly disparate symptoms, referable to mast cell activation syndrome (MCAS), a subtype of mast cell activation disease (MCAD)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Section I.II: Fatigue
- Chapter 8 Fatigue: With so many concerns, pain, and increased sympathetic activity, no wonder there is fatigue
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 9 Brain fog: “I feel like I’ve suddenly developed attention deficit”
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Section I.III: Skin
- Chapter 10 Stretched, unsightly scars: “I wish I’d known I had EDS before having surgery”
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 11 Bruising and bleeding: Excessive bleeding and bruising in a patient with hypermobile EDS
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 12 Poor wound healing: Prolonged wound healing in a hypermobile person
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 13 Repeated joint dislocation and bruising: Ehlers-Danlos syndrome and hypermobility spectrum disorder can mimic nonaccidental trauma (NAT)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Part II: Head and Neck
- Section II.I: Psychological health
- Chapter 14 Anxiety: Worry and beyond
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 15 Depression: Fear and depression
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 16 Posttraumatic stress disorder: “I wasn’t believed!”
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 17 Attention difficulties: The relationship between Ehlers-Danlos syndromes/hypermobility spectrum disorders and attention difficulties, “brain fog,” and attention-deficit hyperactivity disorder (ADHD)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 18 Loneliness and social isolation: Physical symptoms leading to the erosion of a support network
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section II.II: Head and neck
- Chapter 19 Postural headache: Headache and nausea with upright posture due to spinal CSF leak
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 20 Persistent pressure headache: Persistent headache and brain fog from intracranial venous congestion due to jugular venous obstruction
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 21 Cough-induced headache: Cough-induced (ptussive) headache and dizziness due to Chiari malformation
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 22 Excruciating headache on the side of the head: “The worst headache of my life,” due to carotid dissection
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 23 Headache with shaking episodes and “brain fog”: Craniocervical instability with multiple symptoms of cervical medullary syndrome
- Editors’ general overview
- Summary of case report
- Chief complaint
- Relevant history
- Physical findings
- Imaging, tests, and lab studies
- Differential diagnosis
- Working diagnosis
- Treatment
- Follow-up
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 24 Skull-base headache with fainting and intermittent burning limb pain: Headache, syncope, “brain fog,” tinnitus, and neck and limb pain due to atlantoaxial instability (AAI)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 25 Fainting, headache, and “bobble head”: Headache, syncope (fainting), and associated symptoms of atlantoaxial instability (AAI) and Chiari malformation
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 26 Pressure headache and blurry vision: Evaluation and treatment of idiopathic intracranial hypertension (IIH)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 27 Head, neck, and shoulder pain: Cervicogenic headache and neck pain due to subluxation of the upper cervical spine
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Chapter 28 Headache with pain and stiffness in the neck: This headache is a “pain in the neck”—when muscles “try their best,” but don’t succeed
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Chapter 29 Migraine: Headache with nausea and light sensitivity
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section II.III: Eyes
- Chapter 30 Difficulty reading: Convergence fatigue and reduced near vision endurance
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 31 Blurry and double vision: Objects appear blurry, have “ghosting” around them, or are double
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section II.IV: Mouth and voice
- Chapter 32 Temporomandibular joint (TMJ) pain and headache: TMJ pain, clicking jaw joint, headache, and neck muscle pain
- Editors’ general overview
- Case study
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Chapter 33 Gum bleeding and early tooth loss: Periodontal disease and dental implants in Ehlers-Danlos syndrome
- Editors’ general overview
- Case reports
- Discussion
- Conclusion
- Algorithm
- References
- Chapter 34 Difficulty swallowing: “I find it hard to eat,” “things go down the wrong way,” “I choke on food/liquid”
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 35 Voice change and vocal fatigue: “I keep losing my voice.”
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Part III: Torso
- Section III.I: Upper and lower back
- Chapter 36 Upper back pain: Adult spinal deformity (kyphoscoliosis)
- Editors’ general overview
- In memoriam
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 37 Low back pain: “My back is always going out”; sacroiliac joint dysfunction
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 38 Progressive leg weakness and urinary incontinence: I have leg weakness and numbness, low back pain, and urinary incontinence
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 39 Sacral and buttock pain: Unable to sit due to Tarlov cyst syndrome
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section III.II: Rib cage
- Chapter 40 Posterior rib cage and shoulder blade pain: Posterior thoracic musculoskeletal pain
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 41 Chest wall pain: Anterior rib subluxation
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Algorithm
- References
- Section III.III: Lungs
- Chapter 42 Shortness of breath: Multiple causes of dyspnea in a woman with Ehlers-Danlos syndrome
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 43 Still tired after sleeping: Obstructive sleep apnea (OSA) secondary to hypermobile Ehlers-Danlos syndrome (hEDS)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithms
- References
- Section III.IV: Heart and cardiovascular system
- Chapter 44 Palpitations: Heart racing and feeling faint on standing
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 45 Feeling shaky with palpitations: Hypertension, tachycardia, dizziness, and near syncope
- Editor's general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 46 Severe abdominal pain and a cold leg: An arterial dissection or tear can mimic many other conditions in the region of the body affected
- Editors’ general comments
- Case report
- Discussion
- Conclusion
- References
- Further reading
- Section III.V: Abdomen
- Chapter 47 Abdominal pain and feeding intolerance in a child: Food allergies and eosinophilic esophagitis—Culprits in a pediatric patient with suspected hEDS
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 48 Chronic constipation and nausea in a child: Constipation and nausea in a child with hEDS leading to severe weight loss
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 49 Failure to thrive in a young child: The evolution of gastrointestinal symptoms is like a “whack-a-mole” game
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 50 Heartburn and feeling full, even after a small meal: Gastric reflux and medical management in a person with hypermobile Ehlers-Danlos syndrome and gastroesophageal reflux disease (GERD)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 51 Stomach pain and reflux failing medical management: Persistent gastroesophageal reflux requiring surgical intervention
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 52 Sluggish stomach: Upper gastrointestinal symptoms of fullness after eating, epigastric pain, nausea, and vomiting due to delayed gastric emptying
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 53 Persistent nausea: Constant, daily, and unrelenting nausea with weight loss in an adolescent
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 54 Constipation: Hard stools associated with incomplete evacuation
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 55 Severe abdominal pain after eating, and weight loss: Severe abdominal and pelvic pain from vascular compression
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 56 Unrelenting stomach and midback pain, particularly when eating: Epigastric pain and nausea with eating in a person with median arcuate ligament syndrome (MALS)
- Editors’ general overview
- Summary of case report
- Chief complaint
- Relevant history
- Physical findings
- Imaging, tests, and lab studies
- Differential diagnosis
- Working diagnosis
- Treatment
- Follow-up
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section III.VI: Pelvis
- Chapter 57 Bladder pain with urinary frequency and urgency: Multiple urinary symptoms and bladder pain due to interstitial cystitis
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Algorithm
- References
- Chapter 58 Bulging of the bladder and vagina, with difficulty urinating: Prolapse of pelvic organs due to a weak pelvic floor, with associated urinary and rectal dysfunction
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 59 Rectal bulging, hemorrhoids, and difficulty emptying the bowel: Multiple lower gastrointestinal concerns related to pelvic floor collapse
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Part IV: Limbs
- Section IV.I: Movement disorders
- Chapter 60 Twitching: Dystonia presenting as involuntary muscle movements
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 61 Uncontrolled spasms triggered by exercise: An unrecognized traumatic stress disorder manifesting as abnormal and painful movement (dystonia)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Section IV.II: Shoulder/upper limb
- Chapter 62 Neck pain and tingling in the arm and hand: Surgical management of thoracic outlet syndrome (TOS) due to compression of the brachial (nerve) plexus, worsened by reaching overhead
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 63 Shoulder pain and/or instability: Shoulder problems in EDS patients
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 64 Painful shoulder blade: Poor scapular biomechanics causing regional pain in a man with a hypermobility spectrum disorder
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 65 Intermittent pain and weakness in the arm and hand: Long-standing forearm and hand pain with weakness from thoracic outlet compression of the arteries, veins, and nerves: Nonsurgical management
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- Reference
- Chapter 66 Pain in the hands and reduced grip strength: Simultaneous joint laxity and myofascial shortening (tissues “too tight and too loose” at the same time)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Further reading
- Chapter 67 Pain and weakness in the hand, wrist, and forearm: Progressive hand and forearm pain and weakness due to nerve compression near the elbow
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Further reading
- Section IV.III: Lower limb
- Chapter 68 Hip pain: Surgical treatment of an unstable hip: Labral and ligamentum teres reconstruction and periacetabular osteotomy (PAO)
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 69 Wobbly kneecap and a painful knee: Progressive knee pain and knee collapsing from an unstable kneecap and arthritis
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- Reference
- Chapter 70 Swelling and redness in both feet: Swollen and red (plethoric) lower legs and feet when standing or hot, associated with feeling faint
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 71 Leg swelling and pain: Leg swelling and pain while sitting or standing, associated with abdomino-pelvic venous compression diseases
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 72 Weakness and painful numbness in the arms and legs: Thiamine/Vitamin B1 deficiency exacerbating neurological symptoms in hypermobile Ehlers-Danlos syndrome
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 73 Burning pain of the feet: Pedal dysesthesia (burning sensation) in the context of small fiber neuropathy
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Chapter 74 Foot pain and repeated ankle sprains: Ankle instability, foot pain and joint deformities, treated by surgery
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- Diagnostic and treatment algorithm
- References
- Chapter 75 Painful heels, and tired and clumsy feet: Poor biomechanics in the feet causing localized pain, poor gait, and fatigue when walking
- Editors’ general overview
- Case report
- Discussion
- Conclusion
- References
- Appendix Patient resources
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- M
- N
- O
- P
- R
- S
- T
- W
- Z
- Index
- Edition: 1
- Published: December 5, 2023
- Imprint: Elsevier
- No. of pages: 652
- Language: English
- Paperback ISBN: 9780323950824
- eBook ISBN: 9780323950831
CF
Clair A. Francomano
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.
AH
Alan J. Hakim
LH
Lansdale G.S. Henderson
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.
FH
Fraser C. Henderson Sr.
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.