Ehlers-Danlos Syndrome: An Overview and Evidence-Based Physical Therapy Interventions

Ehlers-Danlos Syndrome: An Overview and Evidence-Based Physical Therapy Interventions

By Leslie Rainey, SPT

 

Background:

Ehlers-Danlos-hypermobility type (EDS-HT) is a heritable connective tissue disorder characterized by generalized joint hypermobility, related musculoskeletal manifestations, and involvement of the skin.¹ Associated symptoms include chronic pain, chronic fatigue, dysautonomia, and anxiety.¹ There is evidence that a multidisciplinary approach, including physical therapy, is effective in managing the symptoms of EDS-HT.¹ However, this is an underrecognized and underdiagnosed condition and many physical therapists and other health care professionals are not equipped to effectively treat these patients.²

This disease has always been an interest of mine, primarily because my mother has EDS-HT. I have seen firsthand the devastating impacts of this disease through her experience and recognize the importance for lifelong maintenance of the symptoms to preserve her physical functioning and quality of life. I’ve accompanied my mom to countless surgeries and physical therapy appointments and these experiences inspired me to consider physical therapy as my future career. I am excited for the opportunity this capstone project presented in that I was able to research this lesser-known disease in more depth and produce deliverables that might help other clinicians and patients with EDS-HT in managing this disease.

 

Statement of Need:

While EDS is considered a rare and complex disease, the affected population suffers from its severely debilitating manifestations and yet a high-quality evidence-based clinical practice guideline does not exist.³ There is a significant lack of high-quality research on optimal treatment options for EDS and the evidence that does exist is incohesive and of low quality. Furthermore, there is evidence that physical therapists report a low level of confidence with regard to assessment and management of EDS-HT and consider this a difficult diagnosis to treat.⁴ This lack of evidence-based information coupled with a lack of provider support significantly impact the patient’s experience with the disease. Therefore, there is an urgent need for a comprehensive, evidence-based resource for physical therapists and patients alike in how to manage this chronic condition and maximize health-related quality of life.

 

Purpose:

EDS-HT is a chronic condition that can be successfully managed with the proper patient education and tools. The purpose of my Capstone project was to produce deliverables intended to educate DPT students, clinicians, and patients regarding the current evidence-based recommendations for physical therapy intervention. I intended to create a single resource that compiled the existing literature regarding EDS-HT with the purpose of guiding treatment interventions and educating physical therapists about this disease. The purpose of providing a patient pamphlet was to educate and empower patients to seek out the necessary resources to successfully manage their disease.

 

Products:

The products I produced for my Capstone project include a Critically Appraised Topic (CAT), a VoiceThread presentation and a patient pamphlet. The CAT and the VoiceThread are intended for DPT students and physical therapy clinicians who may encounter EDS-HT in their clinical practice. I had originally planned to produce a systematic review or evidence table, but I realized quickly the dearth of evidence relating to physical therapy interventions and EDS-HT was more appropriate for a CAT. The VoiceThread includes information regarding the epidemiology, pathophysiology, symptoms and clinical diagnosis of EDS-HT as well as a summary of the current evidence-based interventions. The patient pamphlet provides information regarding PT interventions, appropriate referrals, resources and complementary interventions.

 

CAT: Ehlers-Danlos_CAT

VoiceThread: https://voicethread.com/share/14284484/ 

Patient Pamphlet: patient handout

 

Evaluation:

I created an online survey to gather feedback regarding my VoiceThread presentation. Due to the challenges and changes the COVID pandemic presented during the creation of my project, I understand the feedback I receive will be limited. In this respect, I also did a self-evaluation on my work on this project.

This semester presented some unexpected challenges, but I believe I was able to do a good job adjusting to these challenges and was able to produce a project I am proud of. This project required ample flexibility and I had to reevaluate my timeline and products a few times. I was able to adjust my plans and decide to produce a CAT instead of an evidence table or review paper because there just is not sufficient, high-quality evidence on EDS. However, I was still able to identify relevant evidence and synthesize important clinical “take-home” messages. I also was able to produce a comprehensive yet concise VoiceThread presentation and I believe it will serve as a valuable resource for DPT students and clinicians. My timeline was shifted due to the extended stay in Guatemala, but I was able to stay on track and meet revised deadlines. Despite these challenges, I was able to produce a project that fills a significant need within the field of physical therapy intervention.

 

Survey: https://docs.google.com/forms/d/e/1FAIpQLScZe6r3Ho0jyWg7MKCCGk8Bokglukfi49mvn_j7StJmvXD0DQ/viewform?usp=sf_link

 

Health Literacy:

I reviewed the VoiceThread presentations on health literacy and applied this information when creating my patient handout. Specific ways I did this included using bullet points, emphasizing patient concerns, and keeping a good amount of white space on the handout. I reviewed and simplified the language to reflect a 4^th-6^th grade level. For example, instead of using the term “closed-chain” I said “focus on exercises with either the foot or arm in contact with a stable surface” and provided examples. Instead of the term “proprioception,” I used “body awareness.” I aimed to include information that was relevant as well as able to be understood and applied to accommodate any and all patients that might access this pamphlet.

 

Self-Reflection:

This project cemented my desire to work with patients suffering from chronic diseases that impact their physical, emotional, mental and social health as EDS does. Physical therapists have a unique role to play in the management of many chronic diseases and my clinical goals and desires align with filling this need within health care. I am able to empathize with people suffering from chronic diseases and want to provide the necessary interventions and education to equip patients to successfully manage their disease, whatever it may be.

 

Acknowledgements:

I’d like to thank Dr. Debbie Thorpe, PT, PhD for serving as my Capstone advisor. I am grateful for the advice, support, and flexibility she showed during this process. I also would like to thank Jon Hacke, PT, DPT, MA and Cathy Howes, PT, DPT for serving on my committee and providing valuable feedback. Finally, I would like to thank my mother for inspiring me to pursue this topic and for being a strong and courageous role model.

 

References:

1. Castori M, Morlino S, Celletti C, et al. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. Am J Med Genet A. 2012;158A(8):2055-2070. doi:10.1002/ajmg.a.35483
2. Arthur K, Caldwell K, Forehand S, Davis K. Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome: a descriptive study. Disabil Rehabil. 2016;38(11):1063-1074. doi:10.3109/09638288.2015.1092175
3. Sulli A, Talarico R, Scirè CA, et al. Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. RMD Open. 2018;4(Suppl 1):e000790. doi:10.1136/rmdopen-2018-000790
4. Rombaut L, Deane J, Simmonds J, et al. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists. Am J Med Genet C Semin Med Genet. 2015;169C(1):76-83. doi:10.1002/ajmg.c.31434