What is Progeria?
Progeria is also
known as Hutchinson-Gilford Progeria Syndrome (HGPS) or "Benjamin
Button" disease (named after the story and movie "The Curious Case of
Benjamin Button"). This is a rare genetic disease that causes rapid aging
of the child's body. A mutation in the LMNA gene causes progeria. Most children
with progeria do not live beyond the age of 13. The disease affects people of
all genders and races equally. About 1 in 4 million babies are born with it worldwide.
A single mistake in a
particular gene causes it to produce an abnormal protein. When cells use this
protein, called progerin, they break down more easily. This causes children
with progeria to age quickly.
Symptoms of Progeria
There are usually no
symptoms at birth, but the baby begins to show signs of illness during the
first year of life. 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 develop conditions that are common in people aged 50
and over, including bone loss, hardening of the arteries, and heart disease.
Children with progeria usually die from heart attacks or strokes.
Progeria does not
affect a child's intelligence or brain development. A child with this condition
is also no more susceptible to infections than other children.
Causes of Progeria and risk factors
A mutation in the
lamin A (LMNA) gene causes progeria. The gene produces a protein that holds the
center of the cell together. In progeria, the body produces an abnormal form of
lamin A called progerin, which causes rapid aging.
The researchers found
no risk factors for progeria. It is not inherited and does not run in families.
Diagnosis of progeria
The symptoms are
noticeable. It is likely that the pediatrician will notice them during a
routine checkup.
If you see any
changes in your child that resemble the symptoms of progeria, make an
appointment with your pediatrician or family doctor. Your doctor will perform a
physical exam, check your hearing and vision, measure your pulse and blood
pressure, and compare your child's height and weight with other children of the
same age.
If your pediatrician
is concerned, you may need to see a medical geneticist who can confirm the
diagnosis with a blood test. Before genetic blood testing became available,
doctors could only diagnose progeria with x-rays and observation.
Progeria treatment
There is no cure for
progeria, but researchers are hard at work finding one. Clinical trials are
looking into a kind of anti-cancer drug, farnesyl transferase inhibitors, to
see if it can help slow the disease.
Treatment can help
relieve or delay some of the symptoms of the disease.
- Changes in medications and
diet. Your child's doctor
may suggest medications and changes to your child's diet to lower cholesterol
levels or prevent blood clots. A low dose of aspirin every day can help prevent
heart attacks and strokes. Growth hormone can help increase height and weight.
- Physical and occupational
therapy can help your child
keep moving if they have joint stiffness or hip problems.
- Surgery. Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.
- At home. Children with progeria are more prone to
dehydration, so they should drink plenty of water, especially when they are
sick or in hot weather. Smaller, more frequent meals can also help them eat
enough. Soft shoes or inserts can ease discomfort and encourage your child to
play and stay active.
- Sunscreen. Use a broad-spectrum sunscreen with a sun
protection factor of at least 15. Reapply every 2 hours or more often if your
child sweats or swims.
Complications of Progeria
Children with
progeria usually develop a condition called atherosclerosis, which hardens and
slows blood flow to the blood vessels that carry nutrients and oxygen to the
body. Most children with progeria die from atherosclerosis-related heart
attacks and strokes.
Similar conditions
Progeria-like Wiedemann-Rautenstrauch syndrome and Werner syndrome are usually inherited. These two rare syndromes also cause rapid aging and reduced life expectancy.