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Criteria 2
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The presence of 2 or more features (A-C):
Feature A:
Systemic manifestations of a more generalized connective tissue disorder (5 must be present):
Unusually soft or velvety skin Mild skin hyperextensibility Unexplained striae distensae or rubrae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men, or prepubertal females 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 ≥2 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, as defined in ≥1 of the following: (i) positive wrist sign (Walker sign) on both sides, (ii) positive thumb sign (Steinberg sign) on both sides Arm span-to-height ratio ≥1.05 Mild or greater MVP based on strict echocardiographic criteria Aortic root dilatation with Z-score >2
Feature B: Positive family history: ≥1 first-degree relative independently meeting the current criteria for hEDS
Feature C: Musculoskeletal complications (must have ≥1):
Musculoskeletal pain in ≥2 limbs, recurring daily for ≥3 months Chronic, widespread pain for ≥3 months Recurrent joint dislocations or frank joint instability in the absence of trauma
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Criteria 3
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All of the following should be met:
Absence of unusual skin fragility, which should prompt consideration of other types of EDS Exclusion of other heritable and acquired CTDs, including autoimmune rheumatologic conditions. In patients with an acquired CTD (eg, lupus, RA), additional diagnosis of hEDS requires meeting both Features A and B of Criteria 2. Feature C of Criteria 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation. Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/ or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (eg, Bethlem myopathy), other hereditary disorders of the connective tissue (eg, other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (eg, osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.
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