Editing Ehlers–Danlos syndrome (section)

== Diagnosis ==
A diagnosis can be made by an evaluation of medical history and clinical observation. The [[Hypermobility (joints)#Beighton criteria|Beighton criteria]] are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected people. Diagnostic tests include collagen gene-variant testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity, but these tests are not able to confirm all cases, especially in instances of an unmapped variation, so clinical evaluation remains important. If multiple members of a family are affected, prenatal diagnosis may be possible using a DNA information technique known as a linkage study.<ref>{{cite journal | vauthors = Sobey G | title = Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests | journal = Archives of Disease in Childhood | volume = 100 | issue = 1 | pages = 57–61 | date = January 2015 | pmid = 24994860 | doi = 10.1136/archdischild-2013-304822 | s2cid = 11660992 | url = http://adc.bmj.com/content/100/1/57 | doi-access = free}} {{free access}}</ref> Knowledge about EDS among all kinds of practitioners is poor.<ref>{{cite journal | vauthors = Ross J, Grahame R | title = Joint hypermobility syndrome | journal = BMJ | volume = 342 | pages = c7167 | date = January 2011 | pmid = 21252103 | doi = 10.1136/bmj.c7167 | s2cid = 1284069}}</ref><ref>{{cite journal | vauthors = Castori M | title = Ehlers–danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations | journal = ISRN Dermatology | volume = 2012 | page = 751768 | year = 2012 | pmid = 23227356 | pmc = 3512326 | doi = 10.5402/2012/751768 | doi-access = free}}</ref> Research is ongoing to identify genetic markers for all types.<ref>{{Cite news|url=https://www.ehlers-danlos.com/eds-types/|title=The Types of EDS|work=The Ehlers Danlos Society|access-date=2018-10-17}}</ref>

=== Diagnosing hEDS ===
Because no single gene has been identified as the sole cause of the most common type of EDS, hypermobile type, obtaining a diagnosis is often difficult.<ref>{{cite journal | vauthors = Forghani I | title = Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome | journal = Balkan Medical Journal | volume = 36 | issue = 1 | pages = 12–16 | date = January 2019 | pmid = 30063214 | pmc = 6335943 | doi = 10.4274/balkanmedj.2018.1113 }}</ref> The 2017 diagnostic criteria are as follows:

* Criterion 1: Generalized joint hypermobility, as measured by the Beighton score
* Criterion 2: Minimum two of the following must be met:
** Symptoms that suggest a difference in connective tissue structure
*** Unusually soft or velvety skin 
*** Mild skin hyperextensibility 
*** Unexplained striae distensae or rubae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men, or pre-pubertal women without a history of significant gain or loss of body fat or weight 
*** Bilateral piezogenic papules of the heel 
*** Recurrent or multiple abdominal hernia(s) 
*** Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS 
*** Pelvic floor, rectal, and/or uterine prolapse in children, men, or nulliparous women without a history of morbid obesity or other known predisposing medical condition 
*** Dental crowding and high or narrow palate 
*** Arachnodactyly
*** Arm span-to-height ratio ≥1.05  
*** Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria 
*** Aortic root dilatation with Z-score >+2
** Positive family history
** Proof that these symptoms interfere with daily life
*** Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months 
*** Chronic, widespread pain for ≥3 months 
*** Recurrent joint dislocations or frank joint instability, in the absence of trauma
* Criterion 3: Exclusion of all other possible connective tissue disorders that may be the root cause of symptoms.

In such cases where all criteria are met, a patient can be diagnosed with hEDS according to The International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders<ref>{{Cite web |title=The International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders - The Ehlers Danlos Society |url=https://www.ehlers-danlos.com/international-consortium/ |access-date=2024-10-21 |website=www.ehlers-danlos.com}}</ref>

=== Differential diagnosis ===
Several disorders share some characteristics with EDS. For example, in [[cutis laxa]], the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body, but is elastic and returns to normal when let go. In [[Marfan syndrome]], the joints are very mobile, and similar cardiovascular complications occur. People with a "[[marfanoid]]" appearance are often tall and thin with long arms and legs and "spidery" fingers while EDS phenotypes vary considerably. Certain subtypes of EDS may involve short stature, large eyes, and the appearance of a small mouth and chin, due to a small palate. The palate can have a high arch, causing dental crowding. Blood vessels can sometimes be easily seen through translucent skin, especially on the chest. The genetic connective tissue disorder [[Loeys–Dietz syndrome]] also has symptoms that overlap with EDS.<ref>{{cite web|url=http://www.loeysdietz.org/en/medical-information/differential-diagnosis|title=Differential Diagnosis |website=www.loeysdietz.org|url-status=live|archive-url=https://web.archive.org/web/20170623074459/http://www.loeysdietz.org/en/medical-information/differential-diagnosis|archive-date=2017-06-23}}</ref>

In the past, [[Menkes disease]], a copper metabolism disorder, was thought to be a form of EDS. People are commonly misdiagnosed with [[fibromyalgia]], [[Coagulopathy|bleeding disorders]], or other disorders that can mimic EDS symptoms. Because of these similar disorders and complications that can arise from an unmonitored case of EDS, a correct diagnosis is important.<ref>{{cite web |url=http://rarediseases.about.com/cs/ehlersdanlossynd/a/102603.htm |title=Ehlers–Danlos Syndrome |publisher=Rarediseases.about.com |date=2006-05-25 |access-date=2014-02-27 |url-status=live |archive-url=https://web.archive.org/web/20140412011912/http://rarediseases.about.com/cs/ehlersdanlossynd/a/102603.htm |archive-date=2014-04-12}}</ref> [[Pseudoxanthoma elasticum]] is worth consideration in diagnosis.<ref>{{cite web|url=https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum|title=Pseudoxanthoma elasticum |website=Genetics Home Reference|access-date=2018-04-17}}</ref>