Presentation Details
| Deep phenotyping reveals a high prevalence of distressing bleeding symptoms in patients with hypermobile Ehlers Danlos Syndrome (hEDS) spectrum disease . Rohith Jesudas1, Sarah Mathena 2, Kenneth L.Zhang3, Christina Laukaitis3, 4, Jennifer Andrews2. 1St.Jude Children’s Research Hospital, Memphis, TN, USA.2University of Arizona, Tucson, AZ, USA.3Carle Illinois College of Medicine, Urbana, IL, USA.4Carle Foundation Hospital, Urbana, IL, USA |
Abstract
Background: The ISTH BAT has been used as a bleeding severity score (BSS) to quantify bleeding symptoms in patients with hEDS spectrum disease. The relationship between a higher BSS with patient concern and health related quality of life is unknown. Capturing patient experience using qualitative long form interviews to develop a measure of patient reported symptom burden has been used to better understand the impact of a disease. Since this method has not been used to describe the impact of bleeding symptoms in patients with hEDS spectrum disease, we used this in a previously identified cohort of hEDS patients to better understand the impact of the bleeding symptoms associated with hEDS Objectives: 1. To describe the bleeding severity in hEDS patients with the ISTH BAT score 2. To describe the bleeding severity in patients with hEDS using long form interviews to capture the impact on their functioning 3.To develop and explore a score in patients with hEDS for the impact of their bleeding symptoms on activity. Methods: Participants were recruited via the University of Arizona hEDS Gene study and completed surveys on symptoms and well-being including Composite Autonomic Symptom Scale (COMPASS) and the 36 item Short Form Health Survey (SF-36). Participants then completed an in-depth interview that included ISTH BAT and phenotypic symptoms. Interviews were scored via the ISTH BAT and interviews were inductively coded and quantified on the impact of 14 bleeding domains on bleeding distress and overall quality of life (Significant (1), Restrictive (2), and triggering Clinical evaluation (3)). Participants distress scores were totaled (≥6) for severity of bleeding distress in all domains and compared to their ISTH-BAT, SF36 and COMPASS scores. Results:
35 participants (94% Female, mean age 45.2) with symptomatic hypermobility (79.3% with hEDS), completed the interview and 33 completed the interview and ISTH-BAT (94%). 30% of participants had a bleeding score of ≥6.Participants reported a mean distress score of 5.67 across all domains and mean ISTH-BAT of 4.97. Participants reported significant concerns in domains that typically do not qualify for a bleeding disorder evaluations in their daily life such as bruising (42.8% significant), oral/gum bleeding (20% significant) and menstruation bleeding (22.8% restrictive). Statistical results (p<.01) show individuals with a score of ≥6 on bleeding distress on the ISTH-BAT report high bleeding distress and impact on quality of life, but do not show significance differences on the COMPASS/SF36 domains. Conclusions: Past studies have shown a higher incidence of bleeding but these are from groups of multiple etiologies. We are exploring bleeding symptoms in the hEDS population where vascular and classical EDS are excluded. Distress appeared to arise because of concern about potential negative social repercussions of excessive bruising (e.g. being perceived as a sign of physical abuse). The high frequency of visible and anxiety-provoking bruising in patients with hEDS suggests the need for healthcare providers to provide appropriate anticipatory guidance and documentation. This also highlights an unmet need to better understand the mechanisms of cutaneous bleeding in patients with hEDS.
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35 participants (94% Female, mean age 45.2) with symptomatic hypermobility (79.3% with hEDS), completed the interview and 33 completed the interview and ISTH-BAT (94%). 30% of participants had a bleeding score of ≥6.Participants reported a mean distress score of 5.67 across all domains and mean ISTH-BAT of 4.97. Participants reported significant concerns in domains that typically do not qualify for a bleeding disorder evaluations in their daily life such as bruising (42.8% significant), oral/gum bleeding (20% significant) and menstruation bleeding (22.8% restrictive). Statistical results (p<.01) show individuals with a score of ≥6 on bleeding distress on the ISTH-BAT report high bleeding distress and impact on quality of life, but do not show significance differences on the COMPASS/SF36 domains. Conclusions: Past studies have shown a higher incidence of bleeding but these are from groups of multiple etiologies. We are exploring bleeding symptoms in the hEDS population where vascular and classical EDS are excluded. Distress appeared to arise because of concern about potential negative social repercussions of excessive bruising (e.g. being perceived as a sign of physical abuse). The high frequency of visible and anxiety-provoking bruising in patients with hEDS suggests the need for healthcare providers to provide appropriate anticipatory guidance and documentation. This also highlights an unmet need to better understand the mechanisms of cutaneous bleeding in patients with hEDS.
No part of this publication may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the author.