Prevalence of Ehlers Danlos Syndromes and Autonomic Dysfunction in Patients with Mannose Binding Lectin 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.