Running head: PROJECT REPORT EHLERS-DANLOS SYNDROME 1

Health Information Technology Project Report Ehlers-Danlos Syndrome

Sherri White
King University
PROJECT REPORT EHLERS-DANLOS SYNDROME 2

Abstract
Ehlers-Danlos Syndrome (EDS) is a rare hereditary group of disorders that causes a lack of

collagen production in the body resulting in mobility issues due to joint and connective tissue

diseases. Patient’s diagnosed with EDS can have complex complications throughout life because

they look healthy on the outside, but their collagen problem (depending on the severity) can make

their issues challenging. Although EDS is an unusual genetic disorder, reliable resources were

researched to formulate a combination of dependable information gleaned through governmental

resources, electronic resources and peer-reviewed journal articles to articulate information topics

that discuss pathophysiology, types of EDS, symptoms, diagnosis, treatment, and resources in a

website forum. This project report will discuss the positive group dynamic that lead to the

development of a website dedicated to connecting patients experiencing symptoms of EDS with

information and resources that can be used to discuss particular indicators with their primary care

physician in hopes of getting an accurate diagnosis for their issues. The result of working together

cohesively has resulted in the enhancement of each team member to research sources, demonstrate

the knowledge, skills and abilities of designing a health information website with the potential to

reach countless numbers of patients seeking information and resources about specific symptoms

they are experiencing and to do it ethically as well as creatively and reliably

PROJECT REPORT EHLERS-DANLOS SYNDROME 3

Health Information Technology Project Report Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a collagen conundrum. Conundrum refers to a mystery

or a problem. Collagen is a necessary protein produced in the body that functions like glue to keep

joints strong and connective tissue limber. A collagen problem or a collagen mystery are simple

ways of describing Ehlers-Danlos Syndrome. However, EDS is not simple.

EDS is a rare hereditary group of disorders that causes a lack of collagen production in the

body resulting in mobility issues due to joint and connective tissue diseases. Patient’s diagnosed

with EDS can have complex complications throughout life because they look healthy on the

outside, but their collagen problem (depending on the severity) can make their issues challenging.

EDS became the health-related topic of choice for this project website because it is an

extraordinary genetic disorder that often goes undiagnosed until later in life. Each group member

suggested ideas, and one group member is personally affected by EDS as is her mother. The group

was fascinated by this topic and having a group member with this personal diagnosis made it

particularly desirable to research. The decision was unanimous to design a website to inform and

increase awareness about this collagen conundrum as well as to provide reliable resources to

“connect” individuals with more information.

Although EDS is an unusual genetic disorder, reliable resources were available. A

combination of governmental resources, electronic resources and peer-reviewed journal articles

were utilized by each team member to articulate information topics to discuss pathophysiology,

types of EDS, symptoms, diagnosis, treatment, and resources.

Pathophysiology

Coined in 1936 by Doctors Edvard Ehlers and Henri Alexandre Danlos, Ehlers-Danlos

Syndrome (EDS) is a name given to encompass a group of over ten varieties of connective tissue

disorders impacting the skin, joints, and blood vessels by a variety of causative abnormalities
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(Schwartz, 2019). Often diagnosed in early adulthood, it is estimated that one in 400,000 people

live with this disorder, though it is hypothesized that the prevalence is much higher due to

underdiagnosis of EDS (Schwartz, 2019). Symptoms can begin to appear in childhood but are

often nonspecific, resulting in delayed diagnosis (Schwartz, 2019). This heterogeneous syndrome

can be further categorized into classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis,

and dermatosparaxis depending on the underlying collagen irregularity (Schwartz, 2019).

Common characteristics of this disorder include joint hypermobility, cutaneous fragility, delayed

wound healing, and hyperextensibility (Schwartz, 2019). This genetic disorder equally affects all

races and genders (Defendi, 2019).

Types of EDS

EDS types I and II are more commonly seen forms. It is difficult to identify a definitive

causative factor, however, genetic mutations of COL5A1, COL5A2, and tenascin-X are often

identified in these patients (Schwartz, 2019). Types 1 and II are also referred to as the classical

type of EDS and it is estimated that one in 20,000 patients display with these varieties (Defendi,

2019). The most commonly diagnosed form of EDS is type III, also known as the hypermobility

type, and occurs in one in 10,000 patients (Defendi, 2019). Patients with type VII EDS are

deficient in amino-terminal procollagen peptidase (Schwartz, 2019). Types V and VI commonly

have hydroxylase and lysyl oxidase deficiencies, resulting in decreased synthesis of collagen

(Schwartz, 2019). Type VI, also known as kyphoscoliotic, is characterized by neonatal

kyphoscoliosis, generalized joint laxity, skin fragility, and muscle hypotonia at birth, and it is

thought to be caused by over twenty mutations of the LH1 gene (Schwartz, 2019). Though rare,

kyphoscoliotic EDS carries a very poor prognosis, second only to vascular EDS (Schwartz, 2019).

Of the many varieties of EDS, the vascular form of the disease, also known as type IV, is
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considered to be the most dangerous, accounting for the highest complication and mortality rates

(Schwartz, 2019). Type IV is characterized by mutations of the COL3A1 gene, resulting in

fragility of connective tissue and vessels (Schwartz, 2019). This fragility predisposes the patient

to arterial, intestinal, and uterine rupture, as well as premature death (Schwartz, 2019). The

majority of families with autosomal dominant EDS show abnormalities of the COL5A1 or

COL5A2 genes (Schwartz, 2019).

Symptoms

Hypermobile Ehlers-Danlos syndrome, hEDS, formerly EDS type III, has many symptoms

that are experienced at different levels of severity. (Tinkle, et al., 2017), “hEDS is considered to

be an autosomal dominant trait with variable expressivity” (p.51). Since no two cases are alike in

terms of which symptoms are expressed and to what degree, management can be difficult.

Anderson (2015) says, “Clinical management is complex, and varies depending on the presentation

and severity of the patient's symptoms and the type of EDS and its phenotypic expression” (p.43).

HEDS patients can experience symptoms within any body system. Wiesmann, Castori,

Malfait, & Wulf (2014) state, “As many tissues can be involved, the underlying molecular defect

can manifest itself in many organs and with varying degrees of severity. Clinical manifestations

range from extremely mild phenotypes to life-threatening complications” (p.1). According to

Scheper, deVries, Verbunt, & Engelbert (2015), the hallmark symptom for hEDS that must be

present for diagnosis is hypermobile joints that are prone to dislocation and subluxation. Common

symptoms listed by (Anderson, 2015; Ehlers-Danlos National Foundation Website, 2019; Levy,

2018; Scheper, deVries, Verbunt, & Engelbert, 2015; Tinkle, et al., 2017; Wiesmann, Castori,

Malfait, & Wulf, 2014) are skin abnormalities such as soft, velvety skin that can have

hypertensibility, thin in nature, unexplained striae, prone to bruising and papyraceous scarring.
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Fatigue, stiffness, musculoskeletal pain, arthralgia, sprains, soft tissue rheumatism, osteoarthritis

and osteoporosis (np). Sited in (Anderson, 2015; Ehlers-Danlos National Foundation, 2019; Levy,

2018; Scheper, Vries, Verbunt, & Engelbert, 2015; Tinkle, et al., 2017; Wiesmann, Castori,

Malfait, & Wulf, 2014) other symptoms include: Gastrointestinal disorders such as

gastroesophageal reflux disease (GERD), irritable bowel syndrome (IBS) and gastroparesis.

Paresthesia, orthostatic intolerance, postural orthostatic tachycardia syndrome, syncope, dizziness,

palpitation, temporomandibular joint (TMJ) dysfunction, mitral valve prolapse, pelvic prolapse

and hernias are also listed (np).

Diagnosis of EDS

Each type of EDS has different diagnostic criteria. “Traditional diagnosis of EDS consists

of family history and clinical evaluation to assess the diagnostic criteria. Genetic testing is

available for most types of EDS, although not for the most common type, Hypermobility” (Ehlers-

Danlos National Foundation, 2019, Diagnosed section). The most common type, Hypermobile

Ehlers-Danlos Syndrome (hEDS) has no specific diagnostic testing available, therefore

characteristic signs and symptoms are used for diagnosis (Genetic and Rare Diseases Information

Center (GARD), 2017). The specific cause of hEDS is unknown, but genetics most likely are

involved (Levy, 2018).

Confirming a hEDS diagnosis requires meeting three major criteria. Criteria one is

generalized joint hypermobility including the large and small joints which is assessed using the

Beighton Score system and a questionnaire (GARD, 2017). Criteria two is patients must present

with two or more features. These features are broken down into feature A, feature B, and feature

C. Feature A is systemic manifestations of a more generalized connective tissue disorder meaning

a total of five out of twelve symptoms must be present in the patient (GARD, 2017). Some
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examples of the twelve symptoms include unusually soft or velvety skin, bilateral piezogenic

papules of the heel, arm span-to-height ≥1.05, and many other symptoms. Feature B is a “positive

family history, with one or more first-degree relatives independently meeting the current

diagnostic criteria for hEDS” (GARD, 2017, Diagnosis section, ¶ 2). Feature C is musculoskeletal

complications, and the patient must present with one of three which include musculoskeletal pain

in two or more limbs that reoccurs daily for at least three months, chronic widespread pain, and

recurrent joint dislocations or frank joint instability occurring in the absences of trauma at two or

more sites (Levy, 2018). Criteria three is fulfilled when “all these prerequisites must be met:

absence of unusual skin fragility, exclusion of other heritable and acquired connective tissue

disorders including autoimmune rheumatologic conditions, and exclusion of alternative diagnoses

that may also include joint hypermobility due to poor muscle tone (hypotonia) and/or connective

tissue laxity” (GARD, 2017, Diagnosis section, ¶ 3). If all three of these major criteria are met, a

person will be diagnosed with hEDS.

Treatment

Clinical management of hEDS is discouraging to patients due to challenging and

unpredictable symptom management and the lack of definitive treatment. Clinical management

of hEDS has two primary goals, control symptoms and manage pain (Anderson, 2015). Patients

need to have a full understanding of their condition, including triggers, reactions and self-care

strategies to recover from a flare-up or injury. Patients should also know strategies for joint

protection and how to avoid activities and positions that place excessive stress to joints (Russek,

2019).
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A thorough history and physical exam should be performed, focusing on musculoskeletal,

skin, cardiovascular, gastrointestinal and oral/dental systems (Levy, 2018). Validation of

symptoms can be immensely helpful because many have been accused of malingering or

misdiagnosed with psychiatric disorders by previous providers (Levy, 2018). Nurses can be most

beneficial to patients with hEDS by becoming knowledgeable about the condition and help them

find appropriate health care resources (Anderson, 2015)

Physical therapy is crucial to help patients maintain mobility yet reduce the risk of

musculoskeletal complications (Anderson, 2015). Active modes of physical therapy are the

recommended approach to provide patients with hEDS significant pain reduction. Therapies need

to be individualized, but should use education, reassurance, manual therapy, tape, hydrotherapy

and relaxation training (Engelbert, et al., 2017).

Understanding of body mechanics and ergonomics can minimize stress to the body

(Russek, 2019). Improved joint stability may be achieved by low-resistance exercise to increase

muscle tone, rather than muscle strength. Progress should be made by gradually increasing

repetitions, frequency or duration, not resistance. The goal is to improve joint stability and prevent

future subluxations, dislocations and pain (Levy, 2018)

Myofascial release provides short term pain relief that may help patients participate in

toning exercises (Levy, 2018) Aquatic therapy is often beneficial due to decreased joint

compression forces (Russek, 2019).

Braces are useful to improve joint stability, wheelchairs or scooters help to offload stress

on lower extremity joints, and a waterbed, adjustable air mattress or viscoelastic foam mattress

may provide increased support to improve sleep quality and relieve pain (Levy, 2018).
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Non-steroidal anti-inflammatory drugs (NSAIDS) are beneficial for arthralgia, myalgia

and secondary inflammatory conditions for pain relief. Skeletal muscle relaxants are useful when

combined with other medication to treat muscle spasms or neuropathic pain. Opioids are effective

for pain relief but should be used as last resort due to high risk of tolerance, dependence and/or

addiction (Levy, 2018)

Because patients with hEDS have poor, prolonged tissue healing, surgical interventions

should be avoided if possible. Recommendations for surgical care include minimizing incision

size, avoiding skin clips, supplementing sutures with skin-closure strips, and leaving sutures in

place for longer than normal (Russek, 2019). Wound dressing and securement methods should be

easily removable or avoidable if possible due to the increased risk of severe tissue damage

(Weismann, Castori, Malfait, & Hinnerk, 2014). Padding should be used to reduce shearing force

for patient positioning in surgery and patients should be aware that they may have difficulty with

airway management and intubation (Weismann, Castori, Malfait, & Hinnerk, 2014).

Team Dynamics

This team remarkably modeled the stages followed during group developmental dynamics

of forming, storming, norming, and performing. Upon formation, there were five members of the

group: Patricia Bond, Sarah Liberty Taylor, Jacqueline Thompson, Lindsay Thompson and Sherri

White. One member took a leadership role to help direct communication and suggest reliable

resources to research. This allowed each person to choose their particular portion of interest to

study. The group member who accepted the leadership role was positive and encouraging

throughout to keep the team focused and working toward the objective.

The storming portion allowed time for selecting the web application and format to use and

conducting research for each dynamic. Unlike most storming portions, there were no difficulties
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noted. The application chosen to formulate the website is Weebly® (Weebly, 2019), due to it

being a more manageable option with user-friendly formatting.

The norming stage allowed for the work to take place and the tasks to be designated. The

group leader set up the website for use and researched the symptoms portion. Three group

members did research of EDS pathophysiology, diagnosis and treatment. The fifth group member

collated the information to combine references and ensure America Psychological Association

(APA) in-text citation is accurately applied and added multimedia resources.

The performing stage allowed each group member to demonstrate their exceptional work

ethic. All were able to meet timelines of completion for their section. Each group member

personalized their page on the website template and customized it to accurately represent their

chosen focus. All members communicated and critiqued their specific portion of the website for

correctness. The Resources section was added to provide multimedia elements of validation to

offer additional information and support to those affected by EDS. Permission was obtained via

email correspondence from the Ehlers-Danlos Society to utilize video links from their web page

as well as providing their web page link for users interested in additional information.

The group provided a mix of reviews regarding navigation of the website. One member

stated the specifics of Weebly®, brought about slight frustration, however she was able to

complete her section. She further stated the font choices and text colors were limited. Other

members thought their navigation skills evolved after becoming more familiar with use.

The website is standard format and has a welcome page with website overview. It includes

a search bar at the top of the welcome page as well as navigation links at top and bottom to each

section: Home Page, About EDS, Symptoms, Diagnosis, Treatment, Resources and References.
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The goal was to keep this website uncomplicated for ease of toggling between topics and user-

friendliness. Therefore, clear concise navigation was utilized to maximize the visitor's experience.

The work was divided between group members, making the amount of work manageable.

The group was willing to work together toward the common goal of completing the project. The

group was open to suggestions from each member making the experience a positive one. Negative

experiences expressed by team members were the coordination of a project while navigating the

alignment of five people with scheduling demands in various remote locations as well as one

member navigating personal health issues requiring hospitalization. Positive experiences

expressed by team members were having five team members with excellent work ethic made the

work manageable and the experience enjoyable. Communication was through email and text

messaging.

Conclusion

This group project brought together five individuals from East and Middle Tennessee to

form a team with the goal of researching EDS and creating an informational website. The

combination of excellent work ethic, topic interest, and a common goal to finish well has allowed

this group to provide health information access to a patient population that often seems

misunderstood due to complications that are not visible.

The result of working together cohesively has resulted in the enhancement of each team

member to research sources, demonstrate the knowledge, skills and abilities of designing a health

information website with the potential to reach countless numbers of patients seeking information

and resources about specific symptoms they are experiencing and to do it ethically as well as

creatively and reliably.

PROJECT REPORT EHLERS-DANLOS SYNDROME 12

References

Anderson, L. K. (2015, July). Nursing Management of Patients with Ehlers-Danlos Syndrome.

AJN The American Journal of Nursing, 115(7), 38-46.

doi:10.1097/01.NAJ.0000467274.82951.57

Defendi, G. L. (2019, September 05). Genetics of Ehlers-Danlos Syndrome. Retrieved from

Medscape: https://emedicine.medscape.com/article/943567-overview

Ehlers-Danlos National Foundation Website. (2019). What is Ehlers-Danlos Syndroms (EDS).

Retrieved from Ehlers-Danlos National Foundation: https://www.ednf.org/what-is-ehlers-

danlos-syndrome-eds/

Engelbert, R. H., Juul-Kristensen, B., Pacey, V., Wandele, I. d., Smeenk, S., Woinarosky, N., . . .

Simmonds, J. V. (2017, March 17). The Evidence‐Based Rationale for Physical Therapy

Treatment of Children, Adolescents, and Adults Diagnosed with Joint Hypermobility

Syndrome/Hypermobile Ehlers-Danlos Syndrome. American Journal of Medical Genetics

Part C (Seminars in Medical Genetics 175C, 158-167. doi:10.1002/ajmg.c.31545

Genetic and Rare Diseases Information Center (GARD). (2017). GARD Genetic and Rare

Diseases Information Center. Retrieved from National Center for Advancing Translational

Sciences: https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-

syndrome

Levy, H. (2018, June 21). Hypermobile Ehlers-Danlos Syndrome. Retrieved from GeneReviews

[Internet]: https://www.ncbi.nlm.nih.gov/books/NBK1279/

Russek, L. S. (2019, September). Recognizing and Effeectively Managing Hypermobility-Related

Conditions. Physical Therapy, 99(9), 1189+. doi:10.1093/ptj/pzz078

PROJECT REPORT EHLERS-DANLOS SYNDROME 13

Scheper, M., deVries, J., Verbunt, J., & Engelbert, R. (2015). Chronic Pain in Hypermobility

Syndrome and Ehlers–Danlos Syndrome (Hypermobility Type): It is a Challenge. Journal

of Pain Research, 8, 591-601. doi:10.2147/JPR.S64251

Schwartz, R. A. (2019, April 12). Ehlers-Danlos Syndrome. Retrieved from Medscape:

https://emedicine.medscape.com/article/1114004

Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017).

Hypermobile Ehlers–Danlos Syndrome (a.k.a. Ehlers–Danlos Syndrome Type III and

Ehlers–Danlos Syndrome Hypermobility Type): Clinical Description and Natural History.

American Journal of medical Genetics Part C (Seminars in Medical Genetics 175C, 48-

69. doi:10.1002/ajmg.c.31538

Weebly. (2019). Weebly for Education. Retrieved from Weebly: https://www.weebly.com/

Weismann, T., Castori, M., Malfait, F., & Hinnerk, W. (2014). Recommendations for Anesthesia

and Perioperative Management in Patients With Ehlers-Danlos Syndrome(s). Orphanet

Journal of Rare Diseases, 01-09. doi:10.1186/s13023-014-0109-5