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.
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. Online survey is closed.
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).