Progeria

What Is Progeria?

Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS) or the “Benjamin Button” disease (named after the short story and movie ‘The Curious Case of Benjamin Button’). It’s a rare genetic condition that results in a child's body aging rapidly. A mutation in the LMNA gene causes progeria. Most kids with progeria don’t live past age 13. The disease affects people of all sexes and races equally. About 1 in every 4 million babies are born with it worldwide.

A single mistake in a certain gene causes it to make an abnormal protein. When cells use this protein, called progerin, they break down more easily. This leads kids with progeria to age quickly.

Progeria Symptoms

There are usually no symptoms when a baby is born, but they start to show signs of the disease during their first year. They develop physical traits including:

• Slow height and weight growth
• A bigger head
• Large eyes, which they can’t close all the way
• A small lower jaw
• A thin nose with a "beaked" tip
• Ears that stick out
• Veins you can see
• Slow and abnormal tooth growth
• A high-pitched voice
• Loss of body fat and muscle
• Hair loss, including eyelashes and eyebrows
• Thin, wrinkled skin that shows spots

As children with progeria get older, they get diseases you'd expect to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. Children with progeria usually die of heart attacks or strokes.

Progeria doesn't affect a child's intelligence or brain development. A child with the condition isn't any more likely to get infections than other kids, either.

Progeria Causes and Risk Factors

A mutation in the lamin A (LMNA) gene causes progeria. The gene makes a protein that holds together the center of a cell. With progeria, the body makes an abnormal form of lamin A called progerin, which leads to rapid aging.

Researchers haven’t found any risk factors for progeria. It isn’t inherited or passed down in families.

Progeria Diagnosis

The symptoms are noticeable. It's likely that a pediatrician will spot them during a routine checkup.

If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child's height and weight to other kids the same age.

If your pediatrician is concerned, you may need to see a specialist in medical genetics who can confirm the diagnosis with a blood test. Before the genetic blood tests were availables, doctors could only diagnose progeria with X-rays and observation.

Progeria Treatments

There's no cure for progeria, but researchers are working on finding one. One clinical trial is looking at a kind of cancer drug, FTIs (farnesyltransferase inhibitors), to see if it can help slow the disease.

Treatments can help ease or delay some of the disease's symptoms.

Medication and diet changes. Your child's doctor may suggest drugs and changes to your child’s diet to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight. The FDA has approved lonafarnib (Zokinvy) prevent the buildup of defective progerin which can effect the heart.

Physical and occupational therapy can help your child keep moving if they have stiff joints or hip problems.

Surgery. Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.

At home. Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they're sick or it's hot. Small meals more often can help them eat enough, too. Cushioned shoes or inserts can ease discomfort and encourage your child to play and stay active.

Sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 15. Reapply it every 2 hours, or more if your child is sweating or swimming.

Progeria Complications

Children with progeria usually develop a condition called atherosclerosis, which hardens and slows blood flow from blood vessels that carry nutrients and oxygen to your body. Most children with progeria die of heart attacks and strokes related to atherosclerosis.

Similar Conditions

Wiedemann-Rautenstrauch syndrome and Werner syndrome, which are similar to progeria, tend to be inherited. Both of these rare syndromes also cause rapid aging and a shortened life span.

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