Table 5.

Treatment of Manifestations in Individuals with LTBP4-Related Cutis Laxa

Manifestation/
Concern		TreatmentConsiderations/Other
Pulmonary
emphysema
  • Symptomatic treatment w/inhaled corticosteroids, atropine & selective β2-adrenergic bronchodilation
  • Oxygen supplementation if necessary
Immunize against respiratory infections (influenza, Streptococcus pneumonia, Haemophilus influenza).Consider passive immunization for RSV w/palivizumab during RSV season.
Gastrointestinal
issues
  • Surgical treatment of congenital diaphragmatic hernia or severe hiatal hernia
  • Medical treatment of gastroesophageal reflux to ↓ discomfort & reactive bronchospasms
  • Mother's milk in infants to maximize passive immunization
  • Gastrostomy tube may be needed to ensure nutrition in infants w/severe feeding difficulty.
  • Dietary advice, sufficient fluid intake & (if needed) osmotic laxatives to avoid chronic constipation
Genitourinary
issues
  • Education on complete bladder emptying when voiding
  • Antibiotic prophylaxis in case of incomplete voiding & recurrent urinary tract infections
  • Pelvic floor strengthening by PT may help to prevent prolapse of pelvic organs.
Consider artificial bladder implantation.Performed in 1 person
Cardiovascular
concerns 		Care by (pediatric) cardiologist w/experience in connective tissue pathology
Treatment of clinically relevant pulmonary artery stenosisTreatment by catheterization preferred, as it is minimally invasive & needs shorter period of anesthesia
Medical treatment of pulmonary hypertension (e.g., by sildenafil)As directed by pediatric cardiologist
Hypotonia/
Hyperlaxity 		PT for muscle strength & stability

PT = physical therapist/therapy; RSV = respiratory syncytial virus

From: LTBP4-Related Cutis Laxa

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