Allergic and Immunologic Dysregulation in Ehlers-Danlos Syndrome: A Case Series

RATIONALE: Ehlers-Danlos Syndrome (EDS) comprises heritable connective tissue disorders (CTDs) presenting with variable severity and degree of involvement of the skin, musculoskeletal, cardiovascular, and other systems. Growing evidence suggests that some EDS patients have comorbid immunodeficiencies and/or allergic disorders. We sought to better characterize EDS patients presenting to an academic Allergy and Immunology practice.

METHODS: Retrospective chart review of allergy immunology patients at an academic medical center from 2014-2017 identified three EDS patients.

RESULTS: All patients were diagnosed with the hyperextensible EDS (hEDS) phenotype and demonstrated various immunodeficiencies and atopic conditions. Case 1 is a 38 year old woman with hEDS, Chiari malformation, transient IgG1 deficiency and low CH50 and C1r but also with mildly elevated IgE and history of asthma and allergic rhinitis. Case 2 is a 49 year old woman with hEDS, persistent idiopathic T cell lymphopenia, suspected mast cell activation disorder, and food and drug allergies. Case 3 is a 25 year old woman with hEDs, IgA deficiency, asthma, and possible autoimmune syndrome.

CONCLUSIONS: Allergists and Immunologists should be familiar with and consider EDS in patients presenting to their clinics. Our small series corroborates the limited literature. Primary immunodeficiencies affecting different immunologic compartments and various atopic conditions were present. Additional research is required to further characterize these patients and their optimal management.