Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile <scp>Ehlers‐Danlos</scp> syndrome

Ahimaz, Priyanka; Kramer, Tamar; Swaroop, Pooja; Mitchell, M.; Hernan, Rebecca; Anyane‐Yeboa, Kwame; Pereira, Elaine M.

doi:10.1002/ajmg.a.62945

Cited by 3 publications

(2 citation statements)

References 31 publications

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“…The challenges in diagnosis and management of EDS have long been recognized. Patients suspected or diagnosed with EDS have reported a significant, unmet medical need during both the diagnosis and management processes [ 8 – 10 ]. The average diagnostic delay from first symptom is around 14 years, which is likely to be consequential [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

“…It not only delays appropriate treatment, but also places considerable psychological stress on the patients and families [ 12 ]. After receiving the diagnosis, patients see multiple doctors across specialties at different clinics, and report desires for multi-disciplinary care and support from patient community [ 8 , 10 , 13 ]. The uncoordinated care leads to worsened health outcomes and a significant decline in the quality of life, posing challenges to patients and families, as well as healthcare professionals.…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Xu,

Li,

et al. 2024

Orphanet J Rare Dis

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Background The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark features including joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical manifestations and their severity differ among the subtypes, encompassing recurrent joint dislocations, scoliosis, arterial aneurysm and dissection, and organ rupture. Challenges in diagnosis and management arise from the complexity of the disease, which is further complicated by its rarity. The development of clinical guidelines and implementation of coordinated multi-disciplinary team (MDT) approaches have emerged as global priorities. Main body Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes was therefore established. Healthcare professionals were recruited from 25 top hospitals across China. The experts are specialized in 24 fields, including genetics, vascular surgery, dermatology, and orthopedics, as well as nursing care, rehabilitation, psychology, and nutrition. Based on GRADE methodology, the Guidelines were written by the Group supervised by methodologists, following a systemic review of all 4453 articles in PubMed published before August 9, 2023, using the search term “Ehlers Danlos”. A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. In addition to the treatment plan, the Guidelines also emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. This integration not only facilitates recovery in hospital settings, but most importantly, the transition from an illness-defined life to a more “normalized” life. Conclusion The first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients. This article is a synopsis of the full guidelines.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Xu,

Li,

et al. 2024

Orphanet J Rare Dis

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Effects of hypermobile Ehlers‐Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors

Eckstein,

Helm,

Baud

et al. 2023

Journal of Genetic Counseling

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The Ehlers‐Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors' perspectives. To capture these novel views and values, we conducted semi‐structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population.

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Cardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review

Hertel,

Black,

Malloy Walton

et al. 2024

CCR

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Background:: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations, such as cardiovascular symptoms, musculoskeletal pain, and joint instability. Cardiovascular symptoms, such as lightheadedness and palpitations, and types of dysautonomia, including postural orthostatic tachycardia syndrome (POTS), are frequently reported in adults with hEDS and have been shown to negatively impact quality of life (QoL). Objective:: This brief review will be an overview of co-occurring symptoms in POTS and hEDS to inform potential cardiovascular screening procedures. Results:: While many patients with hEDS report cardiovascular symptoms, few have structural abnormalities, suggesting that dysautonomia is likely responsible for these symptoms. One validated screening measure for dysautonomia symptom burden is the Composite Autonomic Symptom Scale (COMPASS-31). Studies have found that adults with POTS, hEDS, and both POTS and hEDS have higher COMPASS-31 scores than the general population, suggesting a high symptom burden due to dysautonomia, which leads to impaired QoL. Conclusion:: While studies have examined cardiovascular symptoms and the impact of dysautonomia in adults with and without hEDS, there is scant literature on dysautonomia in pediatric patients with hEDS. Therefore, more studies on cardiovascular symptoms and dysautonomia, as they relate to the quality of life in pediatric patients with hEDS, are needed. This brief review summarizes the current literature on dysautonomia and cardiovascular symptoms in pediatric and adult populations with hEDS.

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Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome

Cited by 3 publications

References 31 publications

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Effects of hypermobile Ehlers‐Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors

Cardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review

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