Progeria

Progeria is an extremely rare genetic disease that causes rapid aging in children. Newborns with the disorder appear to be healthy at birth but usually start to show signs of premature aging during their first one to two years of life. Their growth rate slows and they don’t gain weight as expected. Children with the condition have typical intelligence. However, their rapid aging causes distinct physical characteristics, including:

• Hair loss (baldness).
• Prominent eyes.
• Aged, wrinkled skin.
• A thin, beaked nose.
• Disproportionately small face compared to head size.
• Loss of fat under the skin.

Progeria gets its name from the Greek word “geras,” which means, “old age.” The classic type of progeria is called Hutchinson-Gilford progeria syndrome, or HGPS. Dr. Jonathan Hutchinson and Dr. Hastings Gilford originally described the disease in the late 1800s.

Progeria is always fatal. The average age of death is 14.5 years, although some adults with progeria will live into their early 20s. A drug called lonafarnib has been shown to slow down the progression of the disease.

Death most often occurs as a result of complications of severe atherosclerosis. This is the same heart disease that affects millions of typically aging adults but at a much younger age. Atherosclerosis occurs when plaque builds up within the walls of your arteries. This makes them less elastic and therefore, stiffer. Complications can lead to heart attack or stroke.

Who does progeria affect?

Progeria is a rare genetic condition that can affect anyone. It most often occurs as a result of a new (de novo) genetic mutation. This means there’s no biological family history of the disorder.

How common is progeria?

Progeria is extremely rare. It occurs in 1 in every 4 million live births worldwide. About 400 children and young adults around the world currently live with progeria.