Table 6.

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Neuromuscular PT assessment for weakness & motor issuesAnnually or more frequently as needed
Musculoskeletal Orthopedics assessment for kyphoscoliosis & recurrent dislocations
Assessment for osteopenia per orthopedistAs needed beginning at age 10-12 yrs
Respiratory Assessment for respiratory complications due to severe kyphoscoliosis per pulmonologistAs needed in those w/severe kyphoscoliosis
Cardiovascular
  • Assessment w/cardiologist
  • Echocardiogram
Every 5 yrs beginning at age 5 yrs, or as recommended by cardiologist
CT or MRA for medium-sized arteries & entire aortaConsider intermittently beginning in young adults & at least annually in those w/aortic or arterial dilatation
Monitor blood pressure.Per cardiologist
Ophthalmologic Ophthalmologic exam for mgmt of myopia & early detection of glaucoma or retinal detachmentAnnually
Hernia Exam for inguinal herniaAnnually or as needed

MRA = magnetic resonance angiogram; PT = physical therapy

From: PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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