The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.

Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients.

Patients And Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients.

Outcomes of orthopaedic surgery in Ehlers-Danlos syndromes: a scoping review.

Background: Patients with Ehlers-Danlos syndromes (EDS) often experience high rates of joint subluxations and dislocations, and associated pain that may require surgical interventions. Orthopaedic surgical management is challenging in this population, and patients will often undergo multiple unsuccessful surgeries. Outcomes data specific to patients with EDS are sparse in the orthopaedic surgery literature.

Ophthalmic findings in Alström syndrome.

Importance: Alström syndrome is a rare genetic disorder characterized by retinopathy and has life-threatening complications. Alström syndrome is frequently misdiagnosed or confused with other early childhood disorders with retinopathy.  Understanding the spectrum of ocular manifestations of Alström syndrome is essential for ophthalmologists to recognize the cause and institute-appropriate care for this disorder that requires multidisciplinary attention.

Estimates of the excess cost burden of Ehlers-Danlos syndromes: a United States MarketScan® claims database analysis.

Introduction: Patients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine the cost burden of EDS and HSD in the United States. We focused this analysis on those with commercial insurance plans.

Mast cell activation syndrome: Current understanding and research needs.

Mast cell activation syndrome (MCAS) is a term applied to several clinical entities that have gained increased attention from patients and medical providers. Although several descriptive publications about MCAS exist, there are many gaps in knowledge, resulting in confusion about this clinical syndrome. Whether MCAS is a primary syndrome or exists as a constellation of symptoms in the context of known inflammatory, allergic, or clonal disorders associated with systemic mast cell activation is not well understood.

Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region.

Background: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs.

A qualitative study of pain and related symptoms experienced by people with Ehlers-Danlos syndromes.

Introduction: Individuals with Ehlers-Danlos syndromes (EDS) often have complex and multi-faceted symptoms across the lifespan. Pain and the related symptoms of fatigue and sleep disorders are common. The objective of this qualitative study was to understand how participants manage their pain and related symptoms.

Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion.

Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients were selected for OCF.

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

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.

Patient Interest in the Development of a Center for Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder in the Chicagoland Region.

Background: The Ehlers-Danlos Syndromes (EDS) are a set of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in the Chicagoland region.

Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.

Patients with hypermobile Ehlers Danlos Syndrome often experience psychological distress resulting from the perceived hostility and disinterest of their clinicians. We conducted 26 in-depth interviews with patients to understand the origins of this trauma and how it could be addressed in practice. We found that the cumulative effects of numerous negative encounters lead patients to lose trust in their healthcare providers and the healthcare system, and to develop acute anxiety about returning to clinic to seek further care.

Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.

Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their "diagnostic odysseys."

Methods: We circulated a survey through the Ehlers-Danlos Society's Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate.

Chiari I Malformations and the Heritable Disorders of Connective Tissue.

The heritable disorders of connective tissue (HDCTs) are a heterogeneous group of inherited disorders caused by pathogenic variants in genes encoding a wide range of molecules involved in the structure and function of the extracellular matrix. Currently, more than 450 HDCTs are recognized. These include the Ehlers-Danlos syndrome (EDS), Marfan syndrome, Loeys-Dietz syndrome (LDS), Stickler syndrome, and a wide range of skeletal dysplasias.

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.

Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here, we report a family with a complex phenotype including combinations of connective tissue, neurological, and metabolic symptoms that were passed on to all surviving children. Analysis of the maternally inherited mtDNA revealed a novel genotype encompassing the haplogroup J - defining mitochondrial DNA (mtDNA) m.

Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common disorder in children and adolescents that negatively impacts health-related quality of life (HRQOL). It can include chronic pain, fatigue, autonomic dysfunction, and mood problems. The objective of this study was to examine levels of agreement between children and parents in the setting of hEDS and HRQOL.

Patient-Reported Outcomes Following Sectioning of the Filum Terminale for Treatment of Tethered Cord Syndrome Associated With Ehlers-Danlos Syndrome.

Introduction Tethered cord syndrome (TCS) was first reported as a potential complication of Ehlers-Danlos Syndrome in 2009. However, there have been few publications on the subject since that time, and optimal treatment of TCS in the setting of the hypermobile Ehlers-Danlos Syndrome (hEDS) population remains unknown. The purpose of this study was to determine the safety and efficacy of surgical release of the filum terminale (FT) for the treatment of TCS in this patient population.

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders.

Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding copy number. HαT affects 5% to 7% of Western populations and has been associated with joint hypermobility. Hypermobility disorders are likewise frequently AD, but genetic etiologies are often elusive.

Longitudinal analysis of symptoms in the Ehlers-Danlos syndromes.

Our study extends a cross-sectional dataset on the Ehlers-Danlos syndromes (EDS) assembled by the National Institute on Aging (NIA), under a protocol entitled Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue. We were successful in contacting 171 of the original 252 participants with EDS. Our study cohort included 91 participants who completed at least one of the following surveys: Brief Pain Inventory (BPI), Pittsburgh Sleep Quality Index (PSQI), Multidimensional Fatigue Inventory (MFI-20), and Short Form (SF-36) Health Survey, at both baseline and follow-up.

Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers-Danlos syndromes and hypermobility spectrum disorders.

The Ehlers-Danlos Society Extension for Community Health Care Outcomes (EDS ECHO) is a portfolio of teleconferencing programs developed around the principles and practices of Project ECHO®, aimed at increasing awareness of Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) among clinicians, enhancing their confidence in the assessment and management of these complex conditions, and generating networks of clinicians across specialties. We assessed the outcomes of the first EDS ECHO program, launched in April 2019, with two hub locations: Indiana University Health, Indianapolis, Indiana, USA, and The Royal Society of Medicine, London, UK. Clinicians were surveyed before and 6 months after their participation.

Respiratory manifestations in the Ehlers-Danlos syndromes.

Persons with the Ehlers-Danlos syndromes (EDS) report a wide range of respiratory symptoms, most commonly shortness of breath, exercise limitation, and cough. Also reported are noisy breathing attributed to asthma, difficulty with deep inhalation, and inspiratory thoracic pain. The literature consists of case reports and small cross-sectional and cohort studies.