Progeria laboratory findings
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have elevated platelet counts, serum phosphorus levels and decreased leptin levels and bone density.
Laboratory Findings
Laboratory findings consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) include:[1][2]
- Decreased serum leptin levels
- Insulin resistance
- Decreased bone density
- Elevated platelet counts
- Elevated serum phosphorus levels
- Some patients with Hutchinson-Gilford progeria syndrome (HGPS) may have prolonged prothrombin time
References
- ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB; et al. (2008). “Phenotype and course of Hutchinson-Gilford progeria syndrome”. N Engl J Med. 358 (6): 592–604. doi:10.1056/NEJMoa0706898. PMC 2940940. PMID 18256394.
- ↑ Gordon LB, Campbell SE, Massaro JM, D’Agostino RB, Kleinman ME, Kieran MW; et al. (2018). “Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib”. Pediatr Res. 83 (5): 982–992. doi:10.1038/pr.2018.9. PMID 29342131.
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