top of page

Patient Resources

Document

A Heterozygous Variant of TGFB3 in a Patient With an Atypical
Presentation of Loeys–Dietz Syndrome: A Case Report

This paper dives into Loeys-Dietz syndrome and transforming growth factor beta3 (TGFβ3). In this case, a 43 year old woman who underwent evaluation for hypermobile Ehlers-Danlos syndrome was found to have a mutation identified as likely pathogenic. Please download a PDF form of this paper in the top right corner!
Document

An update on the new classification of Ehlers‐Danlos syndrome
and review of the causes of bleeding in this population

This study examines the causes of excessive bleeding in patients with Ehlers-Danlos syndrome. It dives into the different factors that are implicated in bleeding issues in patients with Ehlers-Danlos syndrome including platelet dysfunction, platelet-collagen interactions, and Von Willebrand disease. Please download the paper in PDF form in the top right corner!
Document

Hypermobility Patient Management Booklet

This is a hypermobility specific booklet to help patients manage their symptoms effectively. Please feel free to download this booklet and print off sections that are relevant to you! Please download it in the top right corner.
Document

Physician practices in evaluation and treatment of patients
with generalized joint hypermobility and bleeding

This study examined the practices in evaluating and treating patients with joint hypermobility and bleeding.
bottom of page