Increased augmentation index in patients with Ehlers-Danlos syndrome

Maurice Roeder,Frederic Baumann,Marianne Rohrbach,Noriane A Sievi,Thomas Gaisl,Sira Thiel,Malcolm Kohler

doi:10.1186/s12872-020-01684-x

Abstract

BackgroundEhlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression (e.g. arterial aneurysms, dissections, and ruptures) in EDS patients are still missing. Recently, applanation tonometry derived augmentation index (AIx), an indirect marker of arterial stiffness, has shown to be positively associated with progression of aortic disease in Marfan syndrome. In this study, we assessed aortic AIx in patients with EDS and matched healthy controls.MethodsWe performed noninvasive applanation tonometry in 61 adults with EDS (43 women and 18 men aged 39.3 ± 14.6 years) and 61 age-, gender-, height-, and weight-matched healthy controls. Radial artery pulse waveforms were recorded and analyzed using the SphygmoCor System (AtCor Medical, Sydney, NSW, Australia). Calculated AIx was adjusted to a heart rate of 75/min. Groups were compared and association between AIx and EDS was determined by univariate and multivariate regression analysis.ResultsEDS patients were categorized in classical type EDS (34%), hypermobile type EDS (43%), vascular type EDS (5%), or remained unassignable (18%) due to overlapping features. EDS patients showed a significantly increased aortic AIx compared to healthy controls (22.8% ± 10.1 vs 14.8% ± 14.0, p < 0.001). EDS showed a positive association with AIx; independent of age, sex, height, blood pressure, medication, and pack years of smoking.ConclusionsPatients with EDS showed elevated AIx, indicating increased arterial stiffness when compared to healthy controls. Further investigations are needed in order to assess the prognostic value of increased AIx for cardiovascular outcomes in patients with EDS.

Highlights

Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility
Major vascular events have been described in EDS subtypes with other molecular defects, including defects of collagen I and V or molecules involved in collagen folding (FKBP22), processing (ADAMTS-2) or modification (LH1) [3]
Between April and December 2015, EDS patients have been recruited from three different sources: University Children’s Hospital Zurich EDS database, University Hospital Zurich EDS database, and an international network based on EDS associations

Summary

Introduction

Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Ehlers-Danlos Syndrome (EDS) represents a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, connective tissue friability, as well as skin and vascular fragility. Spontaneous aneurysms, dissections and ruptures of medium to large sized arteries, Roeder et al BMC Cardiovascular Disorders (2020) 20:417 caused by defects in type III collagen, are a clinical hallmark of the vascular type of EDS (vEDS). These lifethreatening complications result in a reduced life span with a median age of approximately 51 years [4]. Major vascular events have been described in EDS subtypes with other molecular defects, including defects of collagen I and V or molecules involved in collagen folding (FKBP22), processing (ADAMTS-2) or modification (LH1) [3]

Methods

Results

Conclusion