Prevalence of Ehlers Danlos Syndromes and Autonomic Dysfunction in Patients with Mannose Binding Lectin Deficiency
In this study researchers aim to assess the prevalence of HEDS/HSD, autonomic dysfunction, including POTS, in patients found to have deficiencies in the innate immune compartment, mannose binding lectin (MBL) deficiency.
PRINCIPAL INVESTIGATORS: Anne Maitland, MD, PhD ; Ilene Ruhoy, MD, PhD (Chiari EDS Center, Mount Sinai South); and Isabella Brock, MD
PROJECT GOAL: In this study researchers aim to assess the prevalence of HEDS/HSD, autonomic dysfunction, including POTS, in patients found to have deficiencies in the innate immune compartment, mannose binding lectin (MBL) deficiency.
STUDY TYPE: Retrospective Study
STATUS: In progress
SUMMARY: These observations may lend support to the role of recurrent tissue injury and aberrant tissue repair, contributing to the development and severity of immune dysfunction, disorders of the autonomic system and “heritable” disorders of the connective tissue. An association between Ehlers Danlos Syndromes, Mast Cell Activation Disease (MCAD) and syndromes of autonomic dysfunction, such as postural orthostatic tachycardia syndrome (POTS), has been described in studies with limited cohort populations. In a retrospective study, researchers have already reported the con-concurrence of primary immune disease, hypogammaglobulinemia, MCAD and EDS/HSD. In this study researchers aim to assess the prevalence of HEDS/HSD, autonomic dysfunction, including POTS, in patients found to have deficiencies in the innate immune compartment, mannose binding lectin (MBL) deficiency. We have previously reported in nearly 8% of patients in this cohort have MBL deficiency, indicating secondary MCAD.
Analysis of Micronutrient Tests for Nutritional Deficiencies in Patients with Ehlers-Danlos Syndrome
Identify nutritional deficiencies in people with Ehlers-Danlos Syndromes (EDS) as a starting point for potential therapeutic targeting.
PRINCIPAL INVESTIGATORS: Jessica Pizano DCN, Isabelle Brock MD, and Anne Maitland MD PhD, (NovaCombian Research Institute/Clinical Paradigms LLC, Chesterfield VA); Alissa Zingman MD, (P.R.I.S.M Spine and Joint), Clair A. Francomano MD (Indiana University School of Medicine); Jane R. Schubart PhD (Penn State College of Medicine)
PROJECT GOAL: Identify nutritional deficiencies in people with Ehlers-Danlos Syndromes (EDS) as a starting point for potential therapeutic targeting.
STUDY TYPE: Pilot study, retrospective chart analysis
STATUS: Abstract presented at the American College of Medical Genetics, March 18, 2023
SUMMARY: Hypersensitivity disorders, including mast cell activation disease (MCAD), are emerging as a recognized comorbidity with the hypermobile type of EDS. Nutritional testing is a promising approach to prescribe nutritional therapies to meet the precise needs of patients with EDS. Dietary interventions with higher doses of specific nutrients may be effective in managing symptoms in this population.
The results of this EDSRF study were presented at the annual meeting of the American College of Medical Genetics on March 18, 2023 in Chicago.
Read the Abstract.
Changes in Pain and Other Symptoms of Ehlers-Danlos Syndromes Over Time
Describe the trajectory in EDS symptoms experienced in a cohort of individuals over a decade, and the factors that contributed to their ability to adapt to changing health.
PRINCIPAL INVESTIGATOR: Jane R. Schubart PhD, Susan Mills MPH RN, Heather Stuckey-Peyrot DrPH (Penn State College of Medicine)
PROJECT GOAL: Describe the trajectory in EDS symptoms experienced in a cohort of individuals over a decade, and the factors that contributed to their ability to adapt to changing health.
STUDY TYPE: Qualitative study (semi-structured interviews) of 28 EDS patients
STATUS: Completed.
SUMMARY: This qualitative study is the third study in an ongoing series of research of an EDS patient cohort and builds on a prior study of longitudinal symptom data in the EDS population. Members of this cohort have been tracked for over a decade and the patients are providing rich data for our investigators. This previous study was the first to report a decade of longitudinal data in EDS. The goal of the present study is to expand on this research by increasing our understanding of the trajectory in symptoms of EDS. A manuscript has been accepted for publication.
Economic Impact of Ehlers-Danlos Syndrome: Patient Perspective
Determine the utilization of the health care system by people with EDS and the cost of their care.
PRINCIPAL INVESTIGATOR: Jane R. Schubart PhD (Penn State College of Medicine)
PROJECT GOAL: Determine the utilization of the health care system by people with EDS and the cost of their care.
STUDY TYPE: Survey questionnaire
STATUS: In process. Manuscript under review.
SUMMARY: A complete understanding of the economic burden of EDS is important to advocate for much needed health care policy changes to benefit patients with EDS. This research is a comprehensive study of the costs associated with EDS in the United States to determine the total impact on patients and the economy, including direct medical costs, non-medical costs, and loss of income. This part of the study examines the patient perspectives using a survey questionnaire distributed through patient advocacy and support groups, social media, and practitioners who see EDS patients. The results of these surveys are being analyzed at this time.
The Impact of Underinvestment in Ehlers-Danlos Syndrome
Assess the baseline state of provider knowledge, patient access to appropriate care, and the costs of inadequacies to both patients and society.
PRINCIPAL INVESTIGATORS: Alissa Zingman MD (P.R.I.S.M. Spine and Joint, Bethesda, MD) and Clair A. Francomano MD (Indiana University School of Medicine)
PROJECT GOAL: Assess the baseline state of provider knowledge, patient access to appropriate care, and the costs of inadequacies to both patients and society. The study will use a survey questionnaire distributed to patients seen at P.R.I.S.M. Spine and Joint (Silver Spring, MD) and other sites in 2024.
STUDY TYPE: Survey questionnaire
STATUS: In progress
Prevalence of Ehlers-Danlos Syndromes in the United States
To estimate the prevalence of Ehlers-Danlos syndromes and related comorbidities in the United States.
PRINCIPAL INVESTIGATORS: Jane R. Schubart PhD (Penn State College of Medicine) and Avnish Katoch (Research Informatics, Clinical & Translational Science Institute, Penn State College of Medicine)
PROJECT GOAL: To estimate the prevalence of Ehlers-Danlos syndromes and related comorbidities in the United States.
STUDY TYPE: Retrospective analysis of a large health systems database
STATUS: In progress
SUMMARY: This project will use a global federated health research network, called TriNetX, that provides access to electronic medical records (diagnoses, procedures, medications, laboratory values, genomic information) across large healthcare organizations (HCOs).
Title: Patient-Reported Outcomes Following Sectioning of the Filum Terminale for Treatment of Tethered Cord Syndrome Associated with Ehlers-Danlos Syndrome
The purpose of this study was to determine the safety and efficacy of surgical release of the filum terminale (FT) for the treatment of tethered cord syndrome (TCS) in patients with hypermobile Ehlers-Danlos Syndrome (hEDS).
Thirty patients, all female, who were treated with surgical release by a single neurosurgeon completed surveys with items regarding pre- and postoperative symptoms, pain levels, and satisfaction. Surgical release of the FT was safe and effective in this cohort.
INVESTIGATORS: Alissa Zingman MD (P.R.I.S.M. Spine and Joint, Bethesda MD); Kelly Tuchman (Metropolitan Neurosurgery Group, Bethesda MD); Fraser Henderson Sr MD (University of Maryland Capital Region Medical Center, Largo MD & Metropolitan Neurosurgery Group, Bethesda MD); and Clair A. Francomano MD (Indiana University School of Medicine, Indianapolis)
SUMMARY:
The purpose of this study was to determine the safety and efficacy of surgical release of the filum terminale (FT) for the treatment of tethered cord syndrome (TCS) in patients with hypermobile Ehlers-Danlos Syndrome (hEDS).
Thirty patients, all female, who were treated with surgical release by a single neurosurgeon completed surveys with items regarding pre- and postoperative symptoms, pain levels, and satisfaction. Surgical release of the FT was safe and effective in this cohort.
Click here to read the full article on Cureus