Hutchinson-Gilford Progeria Syndrome: natural history and management
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare but well known entity characterised by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise (mean 12.6 yr). Cognitive development is normal.
Interest for HGPS has always existed but became more expressed when in 2003 both a French and an American group discovered that the disorder was caused by mutations in the gene coding for Lamin A/C. A host of papers followed, dealing with progeria and other laminopathies, and the basal functions that become disturbed in LMNA mutations.
A review of the phenotype in 132 patients from literature, and 9 own patients will be presented. The natural history of HGPS, and the various strategies to obtain eventually therapeutic interventions, will be emphasized.