Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting collagen and extracellular matrix proteins, which can cause skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Complications include joint dislocation, chronic pain, fatigue, functional ga…
A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm.
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a rare inherited connective tissue disorder caused by autosomal-dominant pathogenic variants in the COL3A1 gene. Defective type III collagen results in marked fragility of arteries and hollow organs, predisposing affec…
Erectile dysfunction and lower urinary tract symptoms in men with multiple sclerosis.
Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system commonly associated with lower urinary tract symptoms (LUTS) and erectile dysfunction (ED); however, these conditions remain underinvestigated in Brazilian populations. To evaluate the prevalence of ED and LUTS,…
Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review.
Rectal prolapse can occur in individuals who lack the established risk factors (constipation, obstetric trauma and advanced age). A recognised association with hereditary connective tissue diseases may indicate a role for variants in connective tissue-related genes in the pathogenesis of the disease…
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…
Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review.
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder that is often diagnosed after diagnostic delays due to reliance on heightened clinical suspicion. Hypermobility spectrum disorders (HSD) bridge the gap between asymptomatic joint hypermobility and hEDS. Due to overlapping feat…
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…