Hutchinson – Gilford Progeria Syndrome (HGPS): A Review Article

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition that causes accelerated aging in children, often manifesting with growth delays and skin abnormalities in early childhood. The term "progeria" originates from the Greek word "progeros," meaning "prematurely old," making it a fitting description for this rare genetic disorder. Affected children suffer from severe atherosclerosis, which often leads to cardiovascular complications and strokes, resulting in an average lifespan of about 14.6 years. Cerebrovascular features such as unique craniofacial, increased risk of strokes due to carotid artery occlusion, stenosis, and prominent collateral vessel formation, both large and small vessels disease present. Despite the systemic nature of the disease, cognitive function appears to be preserved, with no evidence of dementia or Alzheimer – type changes observed in limited autopsy studies. This disease condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking. HGPS research may uncover new insights into the aging process and lead to therapeutic breakthroughs. HGPS is triggered by mutations in the LMNA gene, resulting in the production of progerin, a protein that damages cellular function. Current management focuses on alleviating symptoms and improving quality of life, with ongoing research exploring potential treatments to extend lifespan and reduce disease severity