Symptoms of Ehlers-Danlos syndromes (EDS) There are several types of EDS that may share some symptoms. In the case of pregnancy and urological problems, urogynecologist should be consulted. Delays in diagnosis and incorrect diagnosis often results in permanent disabilities among patients due to regular joint dislocations.The exact cause is still unconfirmed. Rectal prolapse can also occur in EDS patients. Most of the EDS patients have this phobia due to frequent joint dislocations. Fecal incontinence can occur more frequently in females than in males. Ehlers–Danlos syndromes (EDS) are a group of rare genetic connective tissue disorders. Testing for vEDS should also be considered in the presence of a combination of the other “minor” criteria.A final diagnosis requires confirmation by molecular testing. Patients with vEDS typically have a heterozygous mutation in the The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no molecular, genetic cause yet identified, so there is no test available for almost all with hEDS.There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS.A diagnosis of hEDS should be assigned only in those who meet all of the criteria, which should help research efforts to discover the underlying genetic cause(s) which, in turn, may help clinical management. Hypermobility in joints of elbows, knees, toes, discoloration around the hands, feet, facial region, tendon inflammation, and osteoporosis are prevalent.Dysmenhorria (more than usual pain during menstruation) and menorrhagia (unusually high uterine bleeding) menometrorrhagia (abnormal bleeding with irregular menstruation cycles) are found in EDS patients. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered. Size and shape abnormalities in muscles controlling eye movements are also reported among patients with Ehlers-Danlos hypermobility syndrome.Pregnancy risks factors like premature membrane rupture and/or early labor and delivery comprising not more than 4 hours are common in Ehlers-Danlos syndrome patients. Pain can prolong from 15 days up to many years. Minimal criteria for aEDS are congenital bilateral hip dislocation (major criterion 1) plus either: skin hyperextensibility (major criterion 3); or severe GJH (major criterion 2) with at least two minor criteria.A final diagnosis requires confirmation by molecular testing; aEDS is caused by heterozygous mutations in either There are nine major criteria and eleven minor criteria. Ehlers Danlos syndrome is often confused with chronic fatigue syndrome, depression, and hypochondriasis (being worried about having a life-threatening disease).Regular dislocations/partial dislocations of joints; glenohumeral joint (shoulder), patella (kneecap), temporomandibular joint (between the lower jaw and skull). Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. Ehlers-Danlos Syndrome is regarded as a genetic problem. Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Minimal clinical standards suggesting vEDS diagnostic studies should be performed are: a family history of the disorder, arterial rupture or dissection in individuals less than 40 years of age; unexplained sigmoid colon rupture: or spontaneous pneumothorax in the presence of other features consistent with vEDS. The relevance of surgical scars should be considered with caution in classical EDS, they can appear normal in patients with classical EDS if well managed.
Usually, pregnancy is conceived normally in EDS patients and problems are minimal but pain during pregnancy, pelvic pain, instability and looseness of limbs may become pronounced that require the application of belts. This is a video explaining the most important characteristics of this condition. Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur.
There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes—except for hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype.Molecular diagnostic strategies should rely on NGS technologies, which offer the potential for parallel sequencing of multiple genes. Minimal clinical standards suggesting cvEDS are the first major criterion plus a family history compatible with autosomal recessive transmission, and either one other major criterion or at least two minor criteria.A final diagnosis requires confirmation by molecular testing; cvEDS is caused by a complete lack of the proa2-chain of type I collagen due to biallelic There are twelve minor criteria. For more detailed information please visit the “Rarer Types of EDS” page. Minimal clinical standards suggesting cEDS are the first major criterion plus either the second major criterion or at least three minor criteria.A final diagnosis requires confirmation by molecular testing. In the case of temporomandibular joint problems, patients should visit an oral and maxillofacial physician. The skin is often soft and may be mildly hyperextensible. Classical EDS is inherited in the autosomal dominant pattern.Skin is hyperextensible if it can be stretched over a standardized cut off in the following areas: 1.5 cm for the distal part of the forearms and the dorsum of the hands; 3 cm for neck, elbow and knees; 1 cm on the volar surface of the hand (palm).Abnormal scarring can range in severity. Major criteria involve a Brighton score of 4 out of 9 and arthralgia comprising of more than 3 months in more than 4 joints.