Citations

ObjectiveThe aim was to study laryngological complaints in patients with hypermobile Ehlers‐Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD).MethodsA total of 363 patients met inclusion for the study by completing questions related to voice, upper airway, and swallowing between July 7, 2020 and July 13, 2022. Demographic data, voice‐related questions, and hypermobility diagnosis were analyzed retrospectively. From those, 289 patients were diagnosed with hEDS or HSD with 74 that did not meet the diagnostic criteria for either diagnosis serving as controls.ResultsThere were no statistically significant differences between patients with hEDS and HSD regarding Voice Handicap Index (VHI‐10) scores, voice, upper airway, or swallow complaints. However, more hEDS/HSD patients answered positively to the laryngeal dysfunction question versus controls (p = 0.031). 22.5% of hEDS/HSD patients (n = 65) reported hoarseness, of which 52.3% reported hoarseness >2 days/month. 33.9% (n = 98) with hEDS/HSD reported symptoms of dysphagia, and 27.0% (n = 78) reported laryngeal dysfunction symptoms. Controls demonstrated 20.3% prevalence of hoarseness, of which 46.7% reported hoarseness >2 days/month. 24.3% of controls had dysphagia and 14.9% laryngeal dysfunction symptoms. Of the 363 patients, VHI‐10 scores >11 were more likely in patients reporting >2 days of hoarseness/month (p = 0.001) versus those with <2 days of hoarseness/month. There was an increased prevalence of voice, upper airway, and dysphagia symptoms in hEDS/HSD patients compared with previously reported prevalence data in the general population.ConclusionA significant proportion of patients diagnosed with hypermobility due to hEDS or HSD were found to have voice, upper airway, and dysphagia symptoms. These rates are higher than those previously reported in the general population.Level of Evidence3 Laryngoscope, 134:773–778, 2024

Identifying risk factors for post-acute sequelae of COVID-19 (PASC) is important. We conducted a multicenter cross-sectional survey study to define and characterize risk factors for severe COVID-19 in adults (≥18 years) treated at our virtual COVID-19 clinic from March 1, 2020, through March 31, 2021. We assessed patient demographics, symptom types, and persistence, incidence of PASC, and COVID-19–caused hospitalizations. Surveyed patients were also asked to rate their perception of the severity of their acute COVID-19 symptoms. Continuous variables were summarized descriptively. Differences among groups categorized by acute COVID-19 symptom severity level (mild/very mild, moderate, and severe/very severe) were evaluated with the Kruskal–Wallis rank sum test for continuous measures and the Pearson χ 2 test for categorical measures. A total of 3094 adults completed the survey. More respondents with severe/very severe acute COVID-19 symptoms reported having PASC than did those with mild/very mild and moderate acute symptoms. A significantly greater proportion of respondents with PASC were women (68.4% vs 56.7%, p < 0.001), had been hospitalized (12.2% vs 4.4%, p < 0.001), reported having negative psychological COVID-19–related repercussions (39.9% vs 15.3%, p < 0.001), and required more than 1 month to resume normal activities (38.8% vs 12.9%, p < 0.001) than did those without PASC. These findings may improve our understanding of PASC and provide a framework for early recognition of and intervention for patients at higher risk for PASC. Further research is needed to understand the predictors of persistent symptoms after acute SARS-CoV-2 infection and the risk of PASC.

Abstract 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. In order to explore and begin to address barriers to seeking out appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. Results: Three hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, that they would make extensive and regular use of such a facility. Conclusions: We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, HSD, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and generate revenue for medical facilities.

AbstractPathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers‐Danlos syndrome (EDS) subtypes and OI‐EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). Here we describe a cohort of 34 individuals with likely pathogenic and pathogenic variants in COL1A1 and COL1A2, 15 of whom have potential OIEDS1 (n = 5) or OIEDS2 (n = 10). A predominant OI phenotype and COL1A1 frameshift variants are present in 4/5 cases with potential OIEDS1. On the other hand, 9/10 potential OIEDS2 cases have a predominant EDS phenotype, including four with an initial diagnosis of hypermobile EDS (hEDS). An additional case with a predominant EDS phenotype had a COL1A1 arginine‐to‐cysteine variant that was originally misclassified as a variant of uncertain significance despite this type of variant being associated with classical EDS with vascular fragility. Vascular/arterial fragility was observed in 4/15 individuals (including one individual with an original diagnosis of hEDS), which underscores the unique clinical surveillance and management needs in these patients. In comparison to previously described OIEDS1/2, we observed differentiating features that should be considered to refine currently proposed criteria for genetic testing in OIEDS, which will be beneficial for diagnosis and management. Additionally, these results highlight the importance of gene‐specific knowledge for informed variant classification and point to a potential genetic resolution (COL1A2) for some cases of clinically diagnosed hEDS.

Background: About 4 out of 10 fibromyalgia patients suffer from depression. The European Alliance of Associations for Rheumatology (EULAR) guidelines recommend using antidepressants to treat fibromyalgia. Objective: To determine predictors of improved outcomes following a multicomponent treatment program. Design: We designed this longitudinal treatment outcome study to evaluate the prevalence of depression symptoms in patients diagnosed with fibromyalgia at a tertiary care facility, and the impact of depression on functional outcomes after completing a multicomponent fibromyalgia treatment program. Setting: Tertiary care center. Patients: This study included 411 adult patients with fibromyalgia who completed a multicomponent treatment program for fibromyalgia. Expert physicians performed comprehensive evaluations following American College of Rheumatology (ACR) criteria to confirm fibromyalgia before referral to the program. Intervention: An intensive outpatient multicomponent treatment program consisting of 16 hours of cognitive behavioral strategies served as the intervention. Measurements: Functional status was assessed using the Fibromyalgia Impact Questionnaire Revised (FIQR). Depression was evaluated with the Center for Epidemiologic Study of Depression (CES-D) measure. Measures were administered prior to participation in the program and approximately 5 months following completion of the program. Results: The cohort had a high prevalence of depressive symptoms (73.2% had depression at admission). Higher depression scores at baseline predicted poorer outcomes following multi-component treatment. Effectively treated depression resulted in improved functioning at follow-up. Limitations: Findings limited to tertiary care center cohort of fibromyalgia patients. Patients did not undergo a structured clinical diagnostic interview to diagnose depression. Conclusions: The current data links depression to poorer outcomes in patients with fibromyalgia. Depression is an important modifiable factor in the management of fibromyalgia. Guidelines should reflect the importance of assessing and effectively treating depression at the time of diagnosis of fibromyalgia, to improve functional outcomes. Registration: Specific registry and specific study registration number—Institutional Review Board—(IRB# 19-000495). Funding Source: No funding.

Background: We present an innovative care model for telehealth by creating a video conference group telemedicine program for patients with chronic disease and discuss findings from a post-program survey that was instrumental in understanding the response to telemedicine in a group setting. Methods: All patients who attended the group telemedicine program had a diagnosis of Hypermobile Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder and were requested to complete survey responses at the close of the program. Surveys were completed anonymously and electronically by REDCap. Elements of the Press Ganey, Consumer Assessment of Healthcare Providers and Systems, and Utah Telehealth Network patient satisfaction surveys were modified to construct the survey. Results: A total of 102 patients completed the post-telehealth program survey between August 20, 2021, and February 11, 2022. Around 93.1% stated that they gained a better understanding of the chronic condition, 88.3% stated that the program gave them the tools to improve, and 76.5% indicated the program addressed their specific needs. Approximately 92.1% found it easy to interact with the program facilitator and 79.4% found it easy to interact with program members. Around 93.1% said they would recommend the program to others. Discussion: We created a group telemedicine program for a complex chronic medical condition. The foundation of knowledge provided by the telemedicine program allowed more time during face-to-face encounters for individual assessment of the patient, and increased access to care. Overall, the program has improved the treatment process by reducing treatment burden and empowering patients with self-management skills to help reach our fundamental treatment goal of improving quality of life.

Since the beginning of the COVID-19 pandemic, healthcare providers worldwide have faced many obstacles in the diagnostic evaluation of patients for severe acute respiratory syndrome coronavirus 2, the causative virus. Even with the application of statistical inference by Bayes’ theorem to estimate the probability of a diagnosis, with and without testing capabilities, some cases may still carry a degree of uncertainty. This has important implications for limiting the spread of disease. The basis for isolation and quarantine is a known diagnosis. This case is an example of a diagnostic conundrum that required more thorough use of testing methods, particularly serological testing, to guide the isolation recommendations for a patient with COVID-19. This will be helpful to other diagnosticians by providing an example of how serological findings may be effectively applied in the course of individual COVID-19 management.

The coronavirus disease 2019 (COVID-19) pandemic is taking a massive toll on health care systems globally. We developed the COVID-19 virtual clinic (CVC) in conjunction with drive through testing to cope with this situation. There are two arms of the CVC: (1) a screening arm and (2) positive patient arm. Screening is performed over the phone based on the Centers for Disease Control and Prevention screening guideline. Positive patients are followed at regular intervals by video appointments where concerns can be addressed by a provider while also tracking symptom progression. We enrolled 63 positive patients out of 1,153 screened for COVID-19 as of this writing. The CVC continues to address patients' concerns and symptoms in an effort to minimize emergency department and hospital patient volumes, as incidence increases. Drive through testing in conjunction with a virtual clinic allows us to provide high-quality care in an anxious time without consuming excessive personal protective equipment or unnecessarily exposing health care workers. This article could serve as a model to guide other practices to cope with this and future pandemics.