ABSTRACT:
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
Cite this article:
Hemin Johnson, Divia Acha Jacob. Hutchinson – Gilford Progeria Syndrome (HGPS): A Review Article. International Journal of Nursing Education and Research. 2025;13(3):204-8. doi: 10.52711/2454-2660.2025.00042
Cite(Electronic):
Hemin Johnson, Divia Acha Jacob. Hutchinson – Gilford Progeria Syndrome (HGPS): A Review Article. International Journal of Nursing Education and Research. 2025;13(3):204-8. doi: 10.52711/2454-2660.2025.00042 Available on: https://ijneronline.com/AbstractView.aspx?PID=2025-13-3-14
REFERENCES:
1. Ulrich NJ, Gordon LB. Hutchinson-Gilford progeria syndrome. Handb Clin Neurol. 2015; 132:249–264.
2. Brune T, Bonne G, Denecke J, et al. Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders. Pediatric Endocrinol Rev. 2004; 2: 39–45.
3. Progeria 101/ FAQ. August. [Sep; 2019]. 2019. https://www.progeriaresearch.org/progeria-101faq/ https://www.progeriaresearch.org/progeria-101faq/ [Ref list]
4. MXR Foo, PF Ong, O. Dreesen. Premature aging syndromes: From patients to mechanism J Dermatol Sci. 2019; 96: 58-65.
5. J K Sinha, S Ghosh, M. Raghunath. Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014; 139: 667-674
6. Foo MXR, Ong PF, Dreesen O. Premature aging syndromes: From patients to mechanism. J Dermatol Sci. 2019 Nov; 96(2): 58-65. doi: 10.1016/j.jdermsci.2019.10.003.
7. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. Seattle, WA: Gene Reviews; 1993. Hutchinson-Gilford Progeria Syndrome.
8. Kara N Shah, M. (2020, December 28. Hutchinson-Gilford Progeria Workup. [Dec; 2020]. 2020.
9. Dhillon, S. Lonafarnib: First Approval. Drugs. 2021; 81: 283–289 https://doi.org/10.1007/s40265-020-01464-z
10. Eriksson M, Brown WT, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15; 423 (6937): 293-8. doi: 10.1038/nature01629. Epub 2003 Apr 2511.
11. De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003; 300: 2055
12. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.
13. Goldman RD, Gruenbaum Y, Moir RD, Shumaker DK, Spann TP. Nuclear Lamins: building blocks of nuclear architecture. Genes Dev. 2002; 16:533–547
14. Mahek D., Pooja K., Shital F. An Overview of Hutchinson- Gilford Progeria Syndrome. Research Journal of Pharmacology and Pharmacodynamics. 2025; 17(2): 137-3. doi: 10.52711/2321-5836.2025.00022
15. Gruenbaum Y, Margalit A, Goldman RD, Shumaker DK, Wilson KL. The nuclear lamina comes of age. Nat Rev Mol Cell Biol. 2005; 6:21–31
16. Goldman RD, Shumaker DK, Erdos MR, et al Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004; 101