Tests
1st tests to order
clinical diagnosis
Test
EDS is present from birth and is often diagnosed in childhood, but in some cases may be detected only in adulthood.
Musculoskeletal and skin manifestations are the primary features; cardiovascular and gastrointestinal autonomic dysfunctions, as well as other manifestations, are considered supportive findings. Apart from joint hypermobility, no feature is universally present in any form of EDS.
Presence of joint hypermobility can be established directly by the Beighton 9-point score or indirectly using the 5-question questionnaire.[16][17]
Result
diagnosis initially made on clinical grounds; use the 2017 hypermobile EDS criteria to determine if a patient meets the diagnostic criteria
genetic testing
Test
There is no genetic test that can confirm or refute the diagnosis of hypermobile EDS.
Molecular genetic testing for other EDS subtypes is available.[5][33] If there are existing genetic test results, do not perform repeat testing unless there is uncertainty about the existing result, e.g., the result is inconsistent with the patient’s clinical presentation or the test methodology has changed.[31]
Result
may reveal pathogenic variants in COL5A1/2 (classical EDS), COL3A1 (vascular EDS), and in other genes associated with rare subtypes of EDS
Tests to consider
complete blood count
Test
Performed if there is a history of easy bruising to exclude alternative causes.
Result
normal
clotting screen
Test
Performed if there is a history of easy bruising to exclude alternative causes.
Result
normal
tilt-table testing
Test
Cardiovascular autonomic abnormalities may be present; most experience is with hypermobile EDS. Tachycardia in the absence of orthostatic hypotension suggests postural orthostatic tachycardia syndrome.
Result
>30-bpm increase in pulse on standing or >120 bpm within 10 minutes of head-up suggests postural orthostatic tachycardia syndrome (POTS); >20 mmHg drop in blood pressure is indicative of orthostatic hypotension (OH); >25 mmHg drop in blood pressure is indicative of neurally mediated hypotension (NMH)
x-ray spine
Test
Usually necessary in patients with spinal pain or with scoliosis noted on physical exam.
Result
may show scoliosis, spondylolisthesis
echocardiogram
Test
Cardiac valve anomalies are seen more frequently with hypermobile EDS. Echocardiogram is necessary to exclude mitral valve prolapse and to assess aortic root diameter. Ideal frequency of echocardiogram (to monitor aortic root) is unknown; probably more important to repeat in childhood and adolescence than in adulthood. May help to make a diagnosis of cardiac-valvular EDS.
Result
may show mitral valve prolapse and/or aortic root dilation
gastrointestinal imaging and endoscopy
Test
Barium enema and colonoscopy may be necessary to exclude associated large bowel pathology, such as carcinoma, inflammatory bowel disease, polyps. CT colonography may be considered as a less invasive alternative to conventional colonoscopy. Evacuating proctography may identify rectocoele, intussusception, and/or megarectum.
Result
exclusion of other diagnoses confirms EDS-related gastrointestinal dysmotility
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