The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.
Hypermobile Ehlers-Danlos Syndrome (hEDS), a connective tissue disorder also known as Ehlers-Danlos Syndrome Type III or Ehlers-Danlos Syndrome Hypermobility Type, and Autism Spectrum Disorder (ASD), a neurodevelopmental disorder, present notable symptom overlap and higher than expected level of com…
Meta-Analysis: Chronic Gastrointestinal Symptoms and Comorbidities in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
Patients with Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorders (HSD) report higher rates of chronic gastrointestinal (GI) symptoms, disorders of gut-brain interaction (DGBI), and extraintestinal comorbidities. We conducted a systematic review and meta-analysis to assess the prevalence o…
Hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome: patient experiences, disability and implications for rehabilitation.
The diagnosis and management of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome (HSD/hEDS) are a healthcare challenge because of the wide array of symptoms, lack of diagnostic biomarkers, and evolving management guidelines. This study aimed to describe patient experiences, di…
Left ventricular non-compaction in a hypermobile adolescent harboring a novel troponin I (TNNI3) variant (p.K106N): a case report.
Left ventricular non-compaction (LVNC) is a genetically heterogeneous cardiomyopathy linked to sarcomeric and cytoskeletal genes, yet only one case has previously been associated with a troponin I (TNNI3) variant. Our case report describes the exceptionally rare coexistence of LVNC, a novel TNNI3 va…
Gastrointestinal Manifestations and Nutrition Support in Hypermobile Ehlers-Danlos, Postural Orthostatic Tachycardia, and Mast Cell Activation Syndromes.
Gastrointestinal symptoms are common and often severe in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders (hEDS/HSD), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). This review provides a structured, practical framework fo…
Computable Phenotype for Identifying Undiagnosed Hypermobile Ehlers-Danlos Syndrome: Protocol for a Development and Validation Study.
Hypermobile Ehlers-Danlos syndrome (hEDS) is a multisystemic hereditary connective tissue disorder characterized by generalized joint hypermobility, chronic pain, and a complex spectrum of comorbidities. Diagnosis relies on complex clinical criteria, leading to poor recognition by clinicians and fra…
Managing Patients With Hypermobility Disorders: They've Seen You, but Have You Seen Them?
SYNOPSIS:Patients with hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) frequently present to outpatient musculoskeletal practice. Yet many physical therapists feel uncertain about how best to manage these complex conditions. Individuals often report years of recu…
Non-suicidal self-injury and suicide attempts among individuals seeking assessment for Ehlers-Danlos Syndromes.
Individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorder (G-HSD) experience psychological distress and are at an increased risk for suicidal behaviors. The current study examined associations between factors uniquely relevant to this population and prior suicide…