Progeria

The accelerated aging disease.
Jenny Ewen, BA, NREMT
Editor-In-Chief

Overview

The concept of accelerated aging sounds like it belongs in movies, but there is a rare and fatal condition that is recognized by its main symptom: accelerated aging in young children. Hutchinson-Gilford Progeria Syndrome (also called Progeria or HGPS) was first written about in England in the nineteenth century by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.

This condition is genetic, and is caused by a mutation in the gene LMNA, which produces Lamin A protein, forming the structure that holds the cell nucleus together. When these proteins are not functioning properly (specifically the protein called progerin), the nucleus of the cell becomes unstable and leads to the premature aging process.

A baby that has progeria is born with normal features, but the accelerated aging becomes apparent during the first year of life. Most children diagnosed with progeria only live to be about 13 years old, due to heart problems or strokes (typically associated with aging). Some can live up to 20 years.

While progeria is based in the genes, it is not hereditary, happens very rarely (about one in four million babies have it), and almost always just by a chance occurrence. Another two conditions also considered progeroid syndromes that cause rapid aging are Wiedemann-Rautenstrauch syndrome (with rapid aging starting in the womb) and Werner syndrome (rapid aging begins as a young adult), and both of these conditions do run in families.

Signs and Symptoms

The main signs are physical, since the condition causes rapid aging:
 
  • Below-average height and weight
  • Large head in comparison to the face
  • Face is narrow with a small jaw and thin lips
  • Eyelids don’t close completely
  • Hair loss (including facial hair loss such as eyelashes and eyebrows)
  • Wrinkled, thin, and spotty skin with veins that are easily visible
  • Higher-pitched voice

There are also internal health issues associated with progeria as a result of the accelerated ages – typically health issues that show up in much older people. Children with progeria may have cardiovascular disease, scleroderma (hardening and tightening of the skin), hearing loss, loss of subcutaneous body fat and overall muscle mass, fragile bones with stiff joints, hip dislocation, insulin resistance, and dental issues such as abnormal tooth formation.

Most often, children with progeria die as a result of complications with the blood vessels that supply the heart (causing a heart attack and congestive heart failure) or problems with the blood vessels supplying blood to the brain, causing a stroke.

Symptoms of aging such as cancer, arthritis, or cataracts typically don’t occur in a case of progeria.

Diagnosis and Treatment

Typically, a doctor will begin to suspect progeria at an appointment with the baby/child due to the physical signs and symptoms associated with the condition. There is a genetic test that identifies LMNA mutations, which will confirm the diagnosis after a physical exam looking for signs and symptoms, checking vitals, measuring height/weight, and checking hearing and vision.

Unfortunately, there is no cure for progeria. There are only treatments to ease the signs and symptoms: taking aspirin every day to lower risk of heart attacks and stroke, medications to lower blood pressure/cholesterol and prevent clots, physical therapy to help with joint stiffness and keeping up the child’s activity level, and ongoing dental care.

Lifestyle treatments include a carefully monitored diet to ensure proper calorie amount and nutrition for health, along with adequate hydration. Sunscreen is highly recommended when any time is spent in the sun to protect the fragile skin. Often shoe pads are recommended due to the lack of body fat causing discomfort.

Researchers are currently working to better understand genes and how progeria progresses in order to find better treatments, and researching if certain cancer treatments could help treat progeria.

Sources and More Information

Mayo Clinic, “Progeria” https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

Progeria Research Foundation, “About Progeria” https://www.progeriaresearch.org/about-progeria/

U.S. National Library of Medicine, Genetics Home Reference, “Hutchinson-Gilford Progeria Syndrome” https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#statistics

U.S. Department of Health & Human Services, National Center for Advancing Translational Sciences – Genetic and Rare Diseases Information Center, “Progeria” https://rarediseases.info.nih.gov/diseases/7467/progeria

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