Progeria:Hutchinson-Gilford Progeria Syndrome (HGPS)
Hutchinson-Gilford Progeria Syndrome is commonly referred to as Progeria or HGPS. Progeria is a genetic
condition that occurs in 1 of every 4 to 8 million newborns. While there are different forms of Progeria , the
classic type is Hutchinson-Gilford Progeria Syndrome. This syndrome was named after the English doctors
Jonathan Hutchinson and Hastings Gilford who first diagnosed it.
What is Progeria?
Progeria or HGPS is a rare, fatal genetic condition characterized by an appearance of accelerated aging in
children. The name is Greek and means "prematurely old."
What are the effects of Progeria?
Although they are born looking healthy, children with Progeria begin to display many characteristics of
accelerated aging at around 18-24 months of age. Progeria signs include:
- growth failure
- loss of body fat and hair
- aged-looking skin
- stiffness of joints
- hip dislocation
- generalized atherosclerosis
- cardiovascular (heart) disease and stroke.
Children with progeria have a remarkably similar appearance, despite differing ethnic backgrounds.
Unfortunately, progeria often leads to death caused by atherosclerosis (heart disease) at an average age of
thirteen years (with a range of about 8 – 21 years).
What causes Progeria?
HGPS is caused by a mutation in the gene called LMNA (pronounced “lamin-a”). The LMNA gene produces the Lamin A
protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe
that the defective Lamin A protein makes the nucleus unstable. That cellular instability leads to the disease
process in Progeria.
Who is at risk for Progeria?
Although Progeria is a genetic condition, in the classic “Hutchinson-Gilford” type, neither parent carries nor
expresses the mutation. Each case is believed to represent sporadic (chance) new mutation that happens in a single
sperm or egg immediately prior to the time of conception. The Hutchinson-Gilford form of Progeria does not run in
families. It affects all races and both sexes equally.
If a set of parents has one child with HGPS, the likelihood that they will have another child with HGPS is
probably the same as with any other adult: 1 in 4-8 million.
There are other progeroid syndromes that may be passed down through families, but the classic HGPS is not.
Therefore, genetic testing is crucial for accurate diagnosis of HGPS, so that children can receive proper care.
How is Progeria diagnosed?
Most children with progeria appear normal until about 18 months of age. Now that the gene mutation has been
identified, The Progeria Research Foundation conducts diagnostic testing. The specific genetic change, or mutation,
in the Progeria gene that leads to HGPS may now be examined. This will lead to more accurate and earlier diagnoses
so that the children can receive proper care.
Prenatal testing for progeria is possible using amniocentesis. However, because the disease is not passed down
genetically and is extremely rare, there would be little reason to perform this testing.
Are there treatments to help children with Progeria?
There are ways to optimize the quality of life for children with Progeria. Treatment involves a continuum of
care that addresses cardiac care, nutrition and physical therapy