Overview
Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria appear healthy at birth, but symptoms like slowed growth, loss of fat tissue, and hair loss begin to appear during the first year. Heart problems or strokes are the eventual cause of death in most children with progeria, with an average life expectancy of about 15 years. Progeria is not linked with an increased risk of cancer. If you have a child with progeria, seeking advice from a genetic counselor can provide information about the risk of having other children with progeria. There is no cure for progeria, but new treatments and research show some promise for managing symptoms and complications.
Understanding the disease
Symptoms
The symptoms of progeria include:
- Slowed growth and poor weight gain, with below-average height and weight.
- Lack of fat that's stored just beneath the skin.
- A head that is large compared with the face.
- A small jaw, chin, and mouth, with thin lips.
- A thin, curved nose with a slight hook at the end, resembling a bird's beak.
- Large eyes and eyelids that don't close completely.
- Hair loss, including eyelashes and eyebrows.
- Thin, spotty, and wrinkled skin.
- Veins easily seen through the skin.
- High-pitched voice.
- Premature aging. Additionally, progeria can lead to severe progressive heart and blood vessel disease, also known as cardiovascular disease, as well as other health issues like hearing loss, problems with the growth and development of bones, joint problems, dental problems, and delayed tooth formation. If you notice any of these symptoms in your child, it is important to consult with a healthcare provider.
Development
Progeria, Wiedemann-Rautenstrauch syndrome, and Werner syndrome are three different disorders characterized by premature aging.
- Progeria (Hutchinson-Gilford progeria syndrome) develops due to a change in the LMNA gene, which causes a flawed lamin A protein called progerin to be produced. This leads to unstable cells and accelerated aging.
- Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb with symptoms of aging apparent at birth. The cause of this syndrome is not entirely clear, but it's thought to involve problems with progerin-like proteins.
- Werner syndrome, also known as adult progeria, is caused by a mutation in the WRN gene. This condition leads to premature aging, cataracts, diabetes, and other age-related conditions. All three disorders cause rapid aging and a shortened life span, but they have different genetic causes and onset periods.
Assessment and Diagnosis
Triage
If you suspect progeria in your child, it is important to see a doctor as soon as possible. Usually, progeria is found in infancy or early childhood during regular checkups when a baby shows distinct signs of premature aging. If you notice changes in your child's growth or development that could be symptoms of progeria, or if you have any concerns about your child's health, make an appointment with your child's healthcare provider. Early diagnosis and intervention can help manage symptoms and improve the child's quality of life.
Diagnosis
To diagnose progeria, health care providers may suspect the condition based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria. The diagnosis process typically involves a thorough physical exam of the child, which includes measuring height and weight, putting measurements on a growth curve chart, testing hearing and vision, measuring vital signs, and looking for visible symptoms of progeria. Health care providers may also use tests such as an ice pack test, blood analysis, and neurological examination to help confirm the diagnosis. It's important to discuss any questions or concerns with the health care provider, as progeria is a rare condition and more information may be needed for appropriate care.
Management and Treatment
Complications
Complications of progeria may include:
- Severe hardening and thickening of blood vessels (atherosclerosis)
- Heart problems or strokes, often caused by atherosclerosis
- Delayed tooth formation and dental problems
- Hearing loss
- Loss of fat and muscle tissue
- Problems with bone growth and development
- Joint stiffness
- Hip dislocation Progeria can lead to premature aging and various health issues, but it is important to note that other health problems typically associated with aging, such as an increased cancer risk, do not usually develop as part of this condition.
Treatment
There are no known cures for progeria, but new treatments and research show some promise for managing symptoms and complications. Although the document does not mention specific treatments in detail, it emphasizes that there are no significant treatments for the condition. Due to the rarity of the disease, research and development of treatments are ongoing, and any new findings or treatments are likely to be published in medical journals or reported by medical news outlets. Genetic counseling may also be available for families with a history of progeria to understand the risks of having another child with the condition.