There is an urgent need for rheumatologists to accept the challenges posed by hypermobility-related disorders, which have, in the past, fallen by default to clinical geneticists untrained in rheumatology. You may find it useful to contact a support group also. Both the Hypermobility Syndromes Association and Ehlers-Danlos Support UK have a network of local support groups where you can meet other people with JHS and Ehlers-Danlos syndrome (EDS).
EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility . Hypermobile EDS (hEDS) is thought to be the most common type . Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs) [5-10]. Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, musculoskeletal primarily, can and do occur.
TLOSR, transient lower oesophageal sphincter relaxation; LOS, lower oesophageal sphincter. The emphasis on disease processes than symptoms has not spared the study of GORD rather.
Finally, the surgical outcomes of GERD among Asians shall be discussed. Information on these topics is limited.
We conclude that IBS and GERD are common complications of classical and hypermobile EDS, and should be sought and treated in these patients. Rupture of the GI tract is a known manifestation of vascular EDS (type IV), and diverticuli and hiatal hernia have been reported without specification of EDS subtype. However, the spectrum and frequency of GI complications in classical (types I and II) and hypermobile (type III) EDS have not been established. Bladder problemsBladder dysfunction is very common in the general population, but there may be an increased risk of various bladder disorders in EDS.
Ambulatory esophageal impedance monitoring is commonly employed to assess for nonacid reflux in patients with extraesophageal reflux. We aimed to determine if on therapy impedance data can be predicted from off therapy upper endoscopy, manometry, or pH parameters.
Dermatosparaxis EDS (dEDS) is an extremely rare type of EDS which has been described only around 10 times. Affected people have fragile extremely, sagging skin. It is usually diagnosed before the age of 2 years. Fragility, sagging and bruising of the skin are severe but, surprisingly, the skin heals well. Like the other rare types, in order to inherit it you need to inherit one faulty gene from EACH of your parents.
Most forms of EDS affect the skin (which can be unusually stretchy and, sometimes, fragile) and the joints which can be ‘double-jointed’ (hypermobile). Many types cause general symptoms such as tiredness also, generalised pain, and poor sleep. Some affect other parts of the body, including blood vessels, the digestive system, the optical eyes, the teeth and the heart valves. A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been diagnosed according to the Villefranche criteria formally. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index), KESS scoring system and the Rome III criteria.
We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated and tabulated systematically.
. Only 10 cases of the dermatosparaxis type have been diagnosed ever. Until very recently, the name ‘Ehlers-Danlos syndrome’ was used to describe all forms of the condition. However, there are many different types of EDS and so it was felt that this was not one syndrome, but many.
Very few therapeutic trials have been conducted in patients with NERD, and even less on symptom generation in this subset of patients. Various underlying mechanisms have been recognised as causing acid reflux events. However, patients with gastro-oesophageal reflux disease (GORD) do not perceive most acid reflux events. The â€œmissing linkâ€ represents mechanisms which are currently unknown that are essential for typical GORD symptoms to evolve in response to acid reflux.
Mean CGERDQ scores for patients with symptoms of GERD (GERD group) were 3.4-fold higher than those for patients without symptoms of the disorder (non-GERD group). Patients in the GERD group were found to have significantly higher mean Chinese ESS scores than those in the non-GERD group. Additionally, more patients in the GERD group had Chinese ESS scores that exceeded 10. The differences in CGERDQ and Chinese ESS scores between the GERD and non-GERD groups retained their significance after controlling for the potential confounders of age and gender. While a cause and effect relationship remains to be established, these findings support an association between GERD and EDS in Taiwanese subjects without liver disease.