Imagine a child of ten years looking
like an eighty-year-old. It doesn’t even end there. This child also shows other
signs associated with old age like growth failure, shrunken or wrinkled face,
baldness, loss of eyebrows and eyelashes amongst other symptoms. It may sound
far-fetched but that is exactly what some children with a condition known as
Progeria suffer from.
Progeria is an extremely rare genetic
disease of childhood characterized by dramatic, premature aging. Symptoms
resembling aspects of aging are manifested at a very early age. The word Progeria
comes from the Greek words "pro" meaning "before" or
"premature", and "gēras" meaning "old age".
There are different forms of the
condition but the classical type is the Hutchinson-Gilford
Progeria Syndrome (HGPS). Progeria was first described in 1886 by
Jonathan Hutchinson. It was also
described independently in 1897 by Hastings Gilford and the condition was later
named after them.
Prevalence
There is a reported incidence of
Progeria of approximately 1 in every 4 to 8 million newborns. Currently, there
are 80 known cases in the world and approximately 140 cases have been reported
in medical history. Both boys and girls run an equal risk of having Progeria
and it appears to affect children of all races equally.
Signs and Symptoms
Children with
Progeria are born looking healthy. When they are about 10 to 24 months old,
features of accelerated aging start to appear. Signs of Progeria may include:
- Growth failure
- Loss of body fat
- Loss of hair
- Skin starts to look aged
- Stiffness in the joints
- Hip dislocation
- Generalized atherosclerosis (cardio and heart disease)
- Stroke
Children who suffer from Progeria are
genetically susceptible to premature, progressive heart disease. Nearly all
Progeria patients die from heart disease. They commonly experience
cardiovascular events, such as hypertension (high blood pressure), stroke, enlarged
heart and heart failure - conditions linked to aging.
Causes
90% of children with Progeria have a
mutation on the gene that encodes Lamin A, a protein that holds the nucleus of
the cell together. It is believed that the defective Lamin A protein makes the
nucleus unstable. This instability seems to lead to the process of premature aging
among Progeria patients.
Progeria appears to occur without
cause - it is not seen in siblings of affected children. In extremely rare
cases more than one child in the same family may have the condition.
Is Progeria hereditary?
Experts
do not believe that Progeria is hereditary. They say it is due to a rare gene
change which happens purely by chance. A non-twin sibling runs the same risk of
having Progeria as any other child from another family. In about 1 in every 100
cases of HGPS the syndrome is passed down to the next generation within the
same family.
Prognosis
As there is no known cure, few people
with progeria exceed 13 years of age. At least 90% of patients die from
complications of atherosclerosis, such as heart attack or stroke.
Treatment
No treatments have been proven
effective. Most treatment focuses on reducing complications (such as
cardiovascular disease) with heart bypass surgery or low-dose aspirin. Children may
also benefit from a high-energy diet.
A type of anticancer drug, the farnesyltransferase inhibitors
(FTIs), has been proposed, but their use has been mostly limited to animal
models.
