The Ehlers-Danlos Syndromes (EDS) are complex and multifaceted conditions that have, for decades, challenged both patients and medical professionals alike. Over recent years, several books have been published on EDS. For instance, Dianna Jovin’s Disjointed and Christie Cox’s Holding It All Together, among many others. Recently, Symptomatic joined the list. Edited by EDS experts Dr. Clair Francomano, Dr. Alan Hakim, Dr. Fraser Henderson, and Dr. Lansdale Henderson and authored by a distinguished group of other renowned experts in the field of EDS, Symptomatic offers an extensive compilation of case studies and expert analyses on the various symptoms and complications associated with EDS.
A Comprehensive Yet Specific Approach
The book’s chapters are structured similarly to a scientific publication, presenting case studies of single patients who each represent one particular symptom or aspect of EDS. This format, while methodical, may not be as accessible to a general audience as it assumes a certain level of pre-existing knowledge about the condition and an understanding of scientific processes. Additionally, it comes at a price of 175 USD, which likely won’t be affordable for the patient population at large. On the other hand, particularly the scientific presentation and writing style of the book might appeal to healthcare professionals, for instance, physicians who encounter EDS in their practice. The case-based approach might be beneficial for clinicians looking to understand the variability and complexity of EDS presentations and that no two zebras are alike.
Content and Structure
The book has more than 70 chapters, often using several chapters to further distinguish the cause of similar symptoms. For instance, the book opens with an overview of the different types of EDS, including the much-debated hypermobile EDS (hEDS) and Hypermobility Spectrum Disorders (HSD). Symptomatic was published before the recent research on a possible causative gene, Kallikrein, was released, so it does not contain the most up-to-date information regarding hEDS. However, the authors suggest that the true prevalence of hEDS and HSD is likely much higher than current estimates. They emphasize that these conditions are often underrecognized, with many patients going undiagnosed or misdiagnosed by healthcare providers. This chapter also offers a summary of which symptoms are associated with each type of EDS, serving as a valuable reference for clinicians.
All subsequent chapters are case studies focusing on specific symptoms, starting with joint instability and pain, one of the most common and debilitating issues for many people with EDS. Written by renowned expert Dr. Marco Castori, this chapter, like many others in the book, underscores the importance of a multidisciplinary approach, although it stops short of providing more detailed treatment protocols, which is true for most of the following chapters as well. Chapters 3 through 5 continue the discussion of pain, covering widespread pain, pain in childhood, and myofascial pain, respectively. The authors, including Cohen et al. in Chapter 3, advocate for a holistic approach to pain management, integrating physical therapy, pain management strategies, and psychological support. However, as with earlier chapters, the discussion remains case-specific, offering insights into individual patient experiences rather than comprehensive treatment guidelines.
Symptom-Specific Discussions
On the other hand, the chapters’ focus on detailed examination of individual cases rather than summaries of clusters of symptoms is also one of its biggest strengths since they highlight the variability in symptom presentation and the need for individualized care. For instance, Chapter 9 highlights the common symptom of brain fog and offers a nuanced discussion of the overlap between cognitive dysfunction and fatigue in EDS patients. Similarly, the chapters on skin issues, including scarring (Chapter 10), bleeding (Chapter 11), and poor wound healing (Chapter 12), provide valuable insights into the dermatological challenges faced by EDS patients. Chapter 13 talks about joint dislocations and, importantly, mentions that the symptoms of EDS can be mistaken for child abuse in many cases – a topic the community has not addressed in decades but slowly gets the attention it deserves.
The book also dedicates several chapters to the psychological aspects of living with EDS – chapters 14 to 18 deal with different mental health issues a person with EDS might have: anxiety, depression, PTSD, ADHD, loneliness, and isolation. Some chapters do a decent job at explaining the cause for many of the mental health issues: gaslighting and medical trauma and the long-term impact this can have on the patient’s mental health. Other mental health chapters are lacking this context and perpetuate stereotypes by suggesting that anxiety is an almost inevitable part of the EDS experience or relating anxiety to autonomic dysfunction. A more nuanced approach that recognizes the diversity of patient experiences would have been more appropriate.
A significant portion of the book is dedicated to the discussion of headaches and other neurological symptoms, reflecting the importance of these issues in the EDS community. Chapters 19 through 27 explore various types of headaches, including those caused by cerebrospinal fluid (CSF) leaks, a still much-neglected complication for the EDS community, Chiari malformation, atlantoaxial (AAI), and craniocervical instability (CCI), aortic dissection (without having vEDS) and intracranial hypertension. More chapters focus on other symptoms related to CCI and AAI, as well as migraine. Chapters 30 – 75 continue the symptom journey downwards the spine, including inner organs, such as the heart and the bladder, to tethered cord and many other issues, concluding with a chapter on pain in the heels of the foot.
Comparison with Other EDS Literature
In comparing this book to other EDS resources, such as the well-known Disjointed, it becomes clear that this new publication serves a different purpose. While Disjointed is more accessible to a broader audience and provides comprehensive baseline information on EDS diagnosis and treatment, Symptomatic is more specialized, focusing on case studies and symptom-specific discussions. It does not offer the same level of detailed guidance on how to diagnose or treat EDS overall but rather shares targeted treatment with individualized approaches. Therefore, Symptomatic is perfectly complementing the other existing resources by providing a deeper dive into the complexities of individual symptoms and patient experiences. It does not provide much new scientific knowledge or studies, but it has several more chapters on conditions that the community is in desperate need of more resources and evidence, such as CCI and AAI. Therefore, this book is very useful as a resource patients can refer to with new doctors or in fights with insurances over medication and surgeries. One of the more practical aspects of the book (particularly for patients) is its inclusion of a list which mentions organizations such as the Chronic Pain Partners and many others.
Conclusion
In conclusion, Symptomatic is a significant contribution to the medical literature on EDS. Its symptom-specific discussions makes it a valuable resource for clinicians, particularly those looking to deepen their understanding of the complexities of EDS. However, it is not a replacement for more comprehensive guides that cover the basics of diagnosis and treatment but rather serves as a complementary text that provides additional insights and depth, particularly in areas that are less commonly covered in other EDS literature.
For physicians and healthcare professionals who regularly encounter EDS in their practice, this book offers a wealth of information that can enhance their clinical approach. However, for patients and caregivers, it may be more useful as a supplementary resource alongside more general EDS guides.
Karina Sturm
September 2024
