What are the other Names for this Condition? (Also known as/Synonyms)

• HGPS (Hutchinson-Gilford Progeria Syndrome)
• Hutchinson-Gilford Progeria Syndrome (HGPS)
• Premature Aging Syndrome

What is Progeria? (Definition/Background Information)

• Progeria is a rare genetic condition that causes accelerated, premature aging in children. While children appear normal at birth, within the first year of their life, growth rate slows and signs of aging become apparent
• Mental and emotional development is not impaired in children with Progeria, however physical growth occurs abnormally
• Towards the end of their life, children with Progeria develop health problems that many elderly adults suffer, including atherosclerosis (hardening of arteries, causing difficulties pumping blood). This leads to life-ending heart attacks, heart failure, and strokes
• The average life expectancy of a child with Progeria is around 14 years, but some children have died earlier or even lived into their 20s
• Progeria is a genetic disorder that results from the mutation of Lamin A gene (LMNA) on chromosome 1. However, the condition is not inherited from any of the parents

Who gets Progeria? (Age and Sex Distribution)

• Progeria is a rare disorder with a prevalence of about 1 in 4 million live births
• It is slightly more common in males than in females, with a ratio of 1.5:1
• Newborns are born with the condition, but the symptoms do not become apparent, until they are 9-24 months of age

What are the Risk Factors for Progeria? (Predisposing Factors)

• The risk factors of Progeria are currently unidentified

Unlike many genetic conditions, Progeria is not passed down in a family. This means that neither parent is a carrier of the gene mutation; the mutation in the child’s genes is new. The gene mutation is a chance occurrence that researchers believe, occurs in a single sperm or egg, before conception.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Progeria? (Etiology)

• Progeria is caused by a mutation in the Lamin A gene (LMNA), which is responsible for making the Lamin A protein that holds the nucleus of cells together
• Due to a mutation to this gene (occurring in the sperm or egg just prior to conception), the protein is not produced correctly. This causes the cell to be unstable, because its nucleus is not being held in place
• Cellular instability is believed to be the underlying cause of premature aging in children with Progeria
• The genetic mutation that occurs is a random event. It is not passed down from the parents to their child

What are the Signs and Symptoms of Progeria?

Common sign and symptoms of Progeria include:

• Slowed/delayed growth; below average height and weight
• Hair loss
• Disproportionately large head in comparison to the body
• Prominent eyes
• Small lower jaw, teeth malformation
• High-pitched voice
• Stiff joints
• Hip dislocation
• Irregular heartbeat
• Scaly, dry, thin skin
• Limited range of motion
• Teeth malformation

Progeria signs and symptoms may not be evident at birth. They slowly become noticeable, about 9-24 months after birth.

• As the child becomes older, the symptoms become more severe and other health problems arise
• Atherosclerosis and other heart abnormalities commonly develop in children with Progeria
• Such conditions ultimately lead to their death at around age 13 years, though this may vary from between the ages of 8-21 years

How is Progeria Diagnosed?

A diagnosis of Progeria may involve:

• Physical exam and family medical history evaluation -failure to grow and hair loss are the most common symptoms helpful in identifying Progeria
• To confirm the diagnosis, the physician may order a genetic test for LMNA mutations. If a mutation is found on the LMNA gene, then the diagnosis is confirmed
• After the diagnosis is confirmed, a cardiac stress test may be ordered. Through this test, signs of atherosclerosis may be revealed, allowing the physicians to prescribe medications, or develop other solutions that will lessen the likelihood of early death

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Progeria?

Progeria is an irreversible disorder. The rapid onset of premature aging is not preventable, which causes many complications to arise:

• Atherosclerosis (severe hardening of arteries) - which causes blood vessels to stiffen and thicken, restricting blood flow
• If blood fails to adequately flow to the heart or to the brain, other complications may arise, including:
  • Heart attack
  • Congestive heart failure
  • Stroke

How is Progeria Treated?

Currently, there is no cure for Progeria. To delay or ease some of its signs and symptoms, the following treatment measures may be taken, including:

• Aspirin or other medications, to reduce the risk of heart attack or stroke
• Growth hormones, to increase one’s height and weight
• Physical therapy, to ease joint stiffness and hip problems
• Coronary artery bypass surgery
• Angioplasty (dilation of cardiac arteries)

How can Progeria be Prevented?

• Currently, there are no specific methods or guidelines to prevent Progeria genetic condition
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Progeria? (Outcomes/Resolutions)

• There is no cure for Progeria (also known as Premature Aging Syndrome) genetic condition
• A majority of the individuals, who suffer from this aging disorder, die between the age of 8 and 21 years, often due to heart complications. The average life expectancy of a child with Progeria is 14 years

Additional and Relevant Useful Information for Progeria:

Although there is currently no cure for Progeria, laboratory studies are currently being conducted on farnesyltransferase inhibitors (FTIs). These drugs have been shown to correct the cell instability that causes Progeria. Currently, human clinical trials are being conducted; though, these are still in their early stages.