Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with FBLN5-Related Cutis Laxa

System/ConcernEvaluationComment
Pulmonary
  • Chest roentgenogram
  • Chest CT exam
To evaluate for pulmonary emphysema
  • Pulmonary function testing
  • Eval by pulmonologist
If clinical signs/symptoms of pulmonary disease
Cardiovascular EchocardiogramConsider pulmonary vessel angiogram if clinically indicated.
Renal Kidney ultrasound examConsider voiding cystoureterogram, given potential presence of urethral diverticula; catheterization should be done carefully. IV pyelogram may be an alternative.
Gastrointestinal Exam for inguinal herniaBarium enema if clinically indicated
Other Consultation w/clinical geneticist &/or genetic counselor

IV = intravenous

From: FBLN5-Related Cutis Laxa

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