Progeria secondary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include nutritional assessment, assessment of cardiac and neurologic status of the patient, musculoskeletal issues assessment, dental evaluation, ophthalmology evaluation and audiology evaluation.

Secondary Prevention

Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome (HGPS) include:[1]

Cardiac assessment

  • In patients with Hutchinson-Gilford progeria syndrome (HGPS) accelerated progressive atherosclerosis is primary concern, so yearly cardiac evaluation should be considered with the following:[2]
    • Electrocardiogram (ECG)
    • Blood pressure measurement
    • Lipid profile testing
    • Echocardiography

Growth management

  • A complete nutritional assessment which includes weight/height on growth charts of the patient
  • Encourage the patient for frequent small meals to maximize calorie intake
  • Advise on adequate oral hydration should be considered

Neurologic assessment

  • In patients with Hutchinson-Gilford progeria syndrome (HGPS) investigate for any symptoms of the following:[3]
    • Transient ischemic attack (TIA)
    • Stroke
    • Brain and neck magnetic resonance imaging (MRI)
    • Carotid duplex scans- vascular status status

Musculoskeletal assessment

  • Annual Skeletal radiographs are recommended.[4]

Dental assessment

  • In patients with Hutchinson-Gilford progeria syndrome (HGPS) for every six months routine dental evaluation is recommended.

Ophthalmologic assessment

  • In patients with Hutchinson-Gilford progeria syndrome (HGPS) annual ophthalmology assessment is considered for the following:
    • Exposure keratopathy

Hearing assessment

  • In patients with Hutchinson-Gilford progeria syndrome (HGPS) annual hearing assessment should be considered for the following:
    • Conductive hearing loss



References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
  2. Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
  3. Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
  4. Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD; et al. (2012). "A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome". Pediatr Radiol. 42 (9): 1089–98. doi:10.1007/s00247-012-2423-1. PMC 4220680. PMID 22752073.

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