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…
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…
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…
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…
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…
Diagnostic value of piezogenic papules in childhood: A scoping review and analysis of existing data.
Piezogenic papules (PP) are soft, skin-colored or yellowish herniations of subcutaneous fat appearing under pressure, commonly on the heels. While usually benign, they may cause pain and have been associated with Ehlers-Danlos syndrome. PP are included in the 2017 diagnostic criteria for hypermobile…
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…