Table 5.

Supportive Treatment of Manifestations in Individuals with ELN-Related Cutis Laxa

Manifestation/ConcernTreatmentConsiderations/Other
Inguinal hernia Repair w/mesh.↑ risk for recurrence
Aortic root dilatation Aortic root repair (Bentall or David procedure depending on aortic valve function)
  • Best thresholds for aortic repair are not established. In general, criteria for Marfan syndrome can be used.
  • Effectiveness of beta-blocking agents or angiotensin receptor antagonists in slowing aortic root dilatation has not been evaluated, but (as w/other connective tissue disorders) these are likely beneficial.
  • For beta-blocking agents, caution is appropriate in persons w/ (reversible) obstructive airway disease, & cardio-selective beta-blocking agents may be preferred.
Emphysema Beta mimetics, anticholinergic agentsAvoid use of anticholinergic agents in persons w/bladder diverticula.
Bladder diverticula
  • Education on complete bladder emptying when voiding
  • Antibiotic prophylaxis in case of incomplete voiding & recurrent urinary tract infections
  • PT to strengthen pelvic floor to help prevent prolapse of pelvic organs
  • Catheterization if significant urinary residual after voiding
Joint hypermobility PTEncourage non-weight-bearing exercise such as cycling & swimming.
Joint pain
  • PT
  • Pain medications in case of acute aggravation of pain
  • Lifestyle recommendations
  • Non-weight-bearing exercise such as cycling & swimming
Ptosis Eyelid surgerySurgery is recommended when eyelid obscures pupil &/or sagging results in recurrent conjunctival infection/irritation.
Skin Cosmetic surgery, lipofilling
  • Skin laxity often recurs.
  • Cosmetic interventions are currently not encouraged.
Self-esteem Psychological supportSuch as giving children age-appropriate language to describe their condition to help w/curious peers

PT = physical therapy

From: ELN-Related Cutis Laxa

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