Most individuals diagnosed with the syndrome have an affected parent. The proportion of cases caused by a de novo pathogenic variant is unknown. Each child of an individual with hEDS has a 50% chance of inheriting the disorder.
Gastrointestinal problems in hypermobile Ehlers-Danlos hypermobility and syndrome spectrum disorders
Of note, a first-degree relative meeting diagnostic criteria for EDS prior, hypermobility type or type III EDS does not count toward this feature; the relative must meet current criteria for hEDS. EDS patients may have chronic pain, leading to NSAID-induced gastritis mimicking GERD or narcotic-induced symptoms mimicking IBS. Alternatively, EDS might cause reduced lower esophageal sphincter tone, increased distensibility, and/or decreased GI motility, resulting in GERD and/or IBS. Autonomic dysfunction could cause both IBS and GERD. 10 patients had suspected or confirmed cardiovascular autonomic dysfunction; 9 had GI complications also.
vEDS can be complicated by abnormal diaphragm shape. After surgery, gut artery blockage and other complications can occur in vEDS also. In addition, rupture of the liver and spleen as well as bleeding after surgery has been reported in these patients.
Further studies are needed to ascertain whether appropriate treatment of GERD shall effectively resolve EDS in these patients. The most important limitations of this study are the small sample size, the absence of confirmation of a diagnosis of GERD by endoscopy or other appropriate diagnostic test, and the lack of a control group. This pilot study was designed to determine the prevalence with which Taiwanese patients without liver disease but who complain of EDS exhibit symptoms of GERD. Furthermore, endoscopy is not performed in hepatology clinics in Taiwan routinely. Future randomized, controlled clinical studies that include a larger number of patients, an appropriate control group, and tests confirming the presence of GERD are warranted clearly.
Specifically, mild somnolence was observed in 29% of GERD 0 patients, 39% of GERD I patients, and 46% of GERD II patients; however 77% of GERD III patients suffered from significant somnolence. Guda et al. , who evaluated 385 consecutive subjects at an outpatient clinic for sleep disorders, reported that those with a diagnosis of GERD had significantly higher ESS scores than those diagnosed without GERD. Furthermore, Chen et al.  reported that patients with nighttime heartburn complain of significantly greater subjective sleep impairment as determined by the Pittsburgh Sleep Quality Index as compared to those without nighttime heartburn. However, it should be noted that Suurna et al.  observed no differences between patients with and without nighttime heartburn in any objective sleep parameter during an overnight polysomnographic study. In this pilot study, 73 Taiwanese subjects with complaints of EDS but for whom no evidence of liver disease was obtained were examined for the presence of GERD; remarkably, more than half (56.2%) were found to suffer from this disorder.
- This scholarly study, although lacking long term follow up, further cements the notion that the hypersensitive oesophagus subgroup will likely respond to higher doses of PPI.
- C, Skin abnormalities such as piezogenic pedal papules, herniations of fat through the dermis that are seen in patients with hereditary disorders of connective tissue commonly.
- Specificity and Sensitivity, respectively, of the symptom-based diagnosis of GORD, were 62% and 67% for the RDQ, 63% and 63% for family practitioners, and 67% and 70% for gastroenterologists.
- Various GI problems in vascular type of EDS (vEDS) have been described, organ perforation and or bleeding primarily.
Clinical variability is substantial. Most individuals who seek medical care are female. Pain and major joint complications are much less common among affected males. This bias may result from differences between women and men with respect to pain perception and inherent joint stability, as well as the effects of sex hormones [Castori et al 2010b].
Many people also have dizziness (vertigo). An uncomfortable feeling of thudding of the heart (palpitations) and noticeable extra beats are symptoms experienced by many people but they are more common in EDS. Many people experience dizziness and a fast pulse rate when they stand quickly. Many affected people find that their skin splits and bruises and that skin injuries heal slowly easily.
A 15 year old girl had a positive ANA, joint swelling and unexplained fevers, and met the diagnostic criteria for SLE later. Another young girl, age 16, in whom a COL5A1 mutation was found, presented with Raynauds phenomenon and joint swelling at the time of initial visit, and was later diagnosed with Juvenile Rheumatoid Arthritis (JRA).
This is the most common type of EDS and is estimated to affect around one in every 100 to 200 people. People with brittle cornea syndrome are very short-sighted generally, and the globe of the optical eye is at risk of rupturing. They also have the typical skin and joint features of classical and hypermobility types of EDS. The exception to this is double-jointed (hypermobility) EDS (hEDS), the most common type, for which there is so no genetic test far.
He developed gastroesophageal reflux and required nasojejunal feeding and fundoplication. He had repeated hospital admissions during infancy for respiratory tract infections and has nocturnal ventilation with bilevel positive airway pressure overnight. He had surgery for severe kyphoscoliosis at the age of 2.5 years. He had motor delay and sat unaided at the age of 2 years. At the age of 4 years he can stand and walks with support, only.