Progeria: The Science Behind Rapid Aging in Children

Overview

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder that causes children to age rapidly. Most children with Progeria appear normal at birth but begin to show signs of aging within the first two years of life.

Causes

Progeria is caused by a mutation in the LMNA gene, which produces lamin A, a protein that helps maintain cell structure. The mutation creates a defective protein called progerin, which leads to premature aging and cellular damage.

Symptoms

Growth delays and short stature

Loss of body fat and muscle

Prominent veins and tight, aged-looking skin

Stiff joints and hip dislocations

Cardiovascular disease, leading to strokes and heart attacks in early teens


Diagnosis

Doctors diagnose Progeria based on symptoms and confirm it with genetic testing for the LMNA mutation.

Treatment

There is no cure, but treatments aim to slow disease progression:

Lonafarnib (Zokinvy): A drug that reduces progerin buildup and extends lifespan by a few years

Heart medications to manage blood pressure and prevent heart disease

Physical therapy to maintain mobility and reduce joint stiffness

Surgery (bypass or stents) for severe cardiovascular complications


Life Expectancy and Outlook

Children with Progeria typically live 12 to 15 years, with heart disease being the leading cause of death. Advances in genetic research offer hope for future treatments.