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Life sciences · Journal article
International Journal of Medical & Pharmaceutical Sciences · August 4, 2026
A consensus or society position rather than new primary data.
This is a narrative literature review of Hutchinson–Gilford Progeria Syndrome covering disease epidemiology, genetics, pathophysiology, clinical presentation, and current and emerging management approaches. It provides a broad clinical overview and highlights emerging therapeutic options (lonafarnib, mTOR inhibitors, antisense therapy, CRISPR-Cas9) but does not present new evidence or systematic evidence synthesis.
Narrative literature review. Children with Hutchinson–Gilford Progeria Syndrome.
HGPS is caused by mutations in the LMNA gene leading to accumulation of abnormal protein progerin Clinical manifestations including growth retardation, alopecia, lipodystrophy, skeletal abnormalities, and premature cardiovascular disease typically develop within the first two years of life Cardiovascular complications are the leading cause of mortality with average life expectancy of approximately 14–15 years
Cardiovascular complications are the leading cause of mortality with average life expectancy of approximately 14–15 years
This review provides clinicians with a comprehensive overview of HGPS presentation, diagnostic approaches, and current management. It signals emerging therapeutic options that may improve outcomes, though the strength of evidence for these interventions is not detailed in this summary.
A literature review synthesizing epidemiology, pathophysiology, clinical features, diagnosis and management of a rare genetic disorder, with discussion of emerging therapies but no new primary data or evidence synthesis.
As stated by the source record.
Quoted from the source exactly as published.
This review provides clinicians with a comprehensive overview of HGPS presentation, diagnostic approaches, and current management. It signals emerging therapeutic options that may improve outcomes, though the strength of evidence for these interventions is not detailed in this summary.
Graded across the dimensions that decide whether you should act, each from what the source actually supports. There is no single score, and where a dimension was not assessed it says so.
Hutchinson–Gilford Progeria Syndrome (HGPS) is a rare, progressive genetic disorder characterized by accelerated aging in children due to mutations in the LMNA gene, resulting in the accumulation of the abnormal protein progerin. Although affected children appear healthy at birth, clinical manifestations such as growth retardation, alopecia, lipodystrophy, skeletal abnormalities, and premature cardiovascular disease typically develop within the first two years of life. Cardiovascular complications remain the leading cause of mortality, with an average life expectancy of approximately 14–15 years. This literature review summarizes the epidemiology, genetic basis, molecular pathophysiology, clinical manifestations, diagnostic approaches, and current management strategies for HGPS. It also highlights recent therapeutic advances, including lonafarnib, mTOR inhibitors, antisense oligonucleotide therapy, and gene-editing technologies such as CRISPR-Cas9 protein, which offer promising future treatment options. Early diagnosis through molecular genetic testing and multidisciplinary management are essential for improving survival and quality of life. Continued research into disease mechanisms and targeted therapies is crucial for developing effective long-term treatments for this devastating disorder.
Taken from the source record, never inferred. Follow any of these and new work involving them reaches your briefing.