Physicians need education, clear EDS diagnosis criteria: Survey

107 providers completed survey; 73 answered at least one open-ended question

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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Clear clinical guidelines and workshops about how to treat and manage children with Ehlers-Danlos syndrome (EDS) to speed diagnosis and improve care are needed, say physicians who took part in an online survey in the U.S.

The study, “Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis,” was published in Global Pediatric Health.

EDS is made up of a group of hereditary disorders of the connective tissue, which supports, protects, and structures skin, joints, blood vessels, and other tissues and organs. Generalized joint hypermobility, meaning the joints readily stretch farther than normal, and velvety skin that’s extremely stretchy characterize the disorders.

The severity and number of symptoms associated with EDS usually mean patients face a lengthy diagnosis. A general lack of knowledge about the disease and specialists available for referrals contribute to this delay.

To better understand barriers in EDS treatment and assess providers’ needs and preferences, researchers at the University of Kansas School of Medicine and Children’s Mercy Hospitals and Clinics, Kansas City surveyed pediatric and family medicine practitioners and trainees at two Midwest academic medical centers.

Part of a larger study, the survey was conducted in December 2021 and February 2022, and focused on what physicians thought would help a diagnosis of EDS, patient care, and educating families with EDS.

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Improving diagnosis, care, management of EDS

The survey was completed by 107 providers and 73 answered at least one of the survey’s five open-ended questions. Nearly half the respondents were pediatric residents (47%), followed by pediatricians (21%), and specialty physicians (11%). About half (53%) had less than five years experience, and 25% had 10 or more years.

Regarding diagnosis and practice, several providers said they’d requested access to clinical practice guidelines (CPGs), diagnostic criteria, and about incorporating and hosting CPGs in EDS to their hospital’s intranet. Diagnosis criteria should be easy to access and brief, they said. Additional suggestions included organizing diagnosis and care information as a flow chart.

“I feel like almost having a ‘clinical practice guideline’ such as what to look out for and ask about every visit would be great,” one participant said.

Participants said they also should have access to educational material, such as web-based resources, along with seminars and lectures to improve their knowledge of EDS. Educational material should also be provided to families, they said.

Participants also spoke of the need for help about who to refer patients to and for accessing physical therapists, professionals with experience with EDS, and specialists in rheumatology and genetics, during both the initial diagnosis and the ongoing management of patients. Having a clear, patient-specific care plan was deemed helpful.

“We see kids with mild EDS for regular check-ups etc. Managing the EDS specifically could be a challenge without the help of a specialist,” a provider said.

To help to diagnose EDS, the respondents said “more exposure” and working with patients was important. Respondents also cited a need to become more familiarized with the diagnostic criteria and subtypes of EDS.

Regarding possible topics for EDS workshops, respondents suggested diagnosis, care, and management. A number of providers requested a workshop on diagnosing EDS and its criteria, as well as clinical “tipoffs,” such as what to look for, signs and symptoms, and common comorbidities. How to assess EDS, lab tests, imaging exams, and screening procedures were also brought up.

The researchers said the responses “provide more granular information about provider needs in the diagnosis, care, management, and education of pediatric patients with EDS.”