Too high and too loose: dysautonomia and the hypertensive paradox in hypermobility disorders.
Hypertension in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) represents an increasingly recognized but poorly understood clinical phenomenon. This review addresses the unique pathophysiology, diagnostic considerations, and management challenges of hypertension…
Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease.
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by cellular accumulation of globotriaosylceramide (Gb3). We investigated dermal Gb3 load as a potential surrogate marker for systemic FD manifestations by applying an automated image analysis pipeline to skin punch biopsies f…
small fiber neuropathylichen sclerosusthoracic outlet syndrome
Distinct sensory and autonomic involvement in hypermobile Ehlers-Danlos syndrome compared with idiopathic small fiber neuropathy: a multimodal study.
Hypermobile Ehlers-Danlos syndrome (hEDS), frequently presents with pain and autonomic symptoms suggestive of small fiber neuropathy (SFN). However, systematic comparisons between hEDS and idiopathic SFN (iSFN) using combined clinical, functional, and morphological approaches are lacking. We prospec…
Two-timepoint multidomain follow-up of post-COVID condition and ME/CFS: overlapping autonomic, small-fiber, and cognitive changes.
Post-COVID condition (PCC) and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) show marked clinical overlap, suggesting a shared post-infectious pathophysiology. This study aims to characterize the longitudinal change of autonomic function, small-fiber integrity, cognitive performance, a…
Oxygen-ozone autohaemotherapy in fibromyalgia: oxidative stress, Nrf2 activation, small fibre neuropathy and a critical narrative review of the evidence.
Fibromyalgia (FM) is a chronic pain disorder marked by widespread pain and significant impairment of daily life. Despite evolving diagnostic criteria and recognition as a primary chronic pain condition, current treatments yield limited success, and underlying mechanisms remain under investigation.Th…
Irritable bowel syndrome is related to small fibre pathology in patients with fibromyalgia.
Fibromyalgia (FM) is a multisystem disorder frequently associated with functional gastrointestinal disorders, particularly irritable bowel syndrome (IBS). Diet-related factors and gut microbiota alterations, key elements in IBS pathophysiology, may disrupt the gut-brain axis, promoting immune activa…
Preload failure and small fiber neuropathy are associated with persistent dyspnea following acute pulmonary embolism: Insights from invasive cardiopulmonary exercise testing.
For the majority of patients who experience persistent dyspnea 3 months after an acute pulmonary embolism (PE), the cause of exercise limitation is unknown. We hypothesized that data collected from invasive cardiopulmonary exercise (iCPET) would inform whether pre-load failure (PLF) may be an under-…