Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with TNXB-Related Classical-Like Ehlers-Danlos Syndrome

System/ConcernEvaluationComment
Musculoskeletal Rheumatologist / physical medicine & rehab / PT & OT / podiatrist evalTo incl assessment of:
  • Tone & joint laxity
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve strength and tone) &/or OT (to improve fine motor skills)
  • Podiatry assessment for foot abnormalities
Avoidance of sports that place heavy strain on joints also recommended (See Agents/Circumstances to Avoid.)
Cardiovascular Baseline echocardiogramTo assess for structural cardiac abnormalities & aortic dimensions
Hematologic Consider referral to hematologist for those w/recurrent severe bruising w/swelling.Further lab studies (e.g., clotting studies) may be requested; per hematologist
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of TNXB-related clEDS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; clEDS = classical-like Ehlers-Danlos syndrome; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: TNXB-Related Classical-Like Ehlers-Danlos Syndrome

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