Progeria

Overview

What is progeria?

Progeria (Hutchinson-Gilford Progeria Syndrome, or HGPS) is a very rare genetic disease that causes children to age rapidly. Children with progeria appear to be healthy at birth but usually start to show signs of rapid aging in the first two years of their life. Most die by about age 13 or 14, although some live into their early 20s. The cause of death is most often heart disease, or sometimes stroke.

How common is progeria?

Progeria affects about 1 in 20 million people around the world. According to the Progeria Research Foundation, there are about 350 to 400 children living with progeria worldwide at any time. Progeria seems to affect boys and girls equally, and is not more common in one race than another.

Symptoms and Causes

What causes progeria?

Progeria is caused by a mutation (change) in the lamin A (LMNA) gene. This gene makes a protein that holds the nucleus of a cell together. Because of the change in the gene, the protein becomes defective. This makes the nucleus unstable, which is believed to cause the premature aging process.

The mutation of the LMNA gene does not run in families. In fact, parents and siblings of children with progeria are rarely affected.

What are the symptoms of progeria?

Children with progeria begin to show signs and symptoms of rapid aging within the first two years of life. These include:

  • Failure to grow at the same rate as their peers
  • Loss of body fat
  • Baldness
  • Skin takes on an aged, wrinkled look
  • Stiff joints

Other signs and symptoms of progeria include:

  • Faces that are small for the size of their heads
  • Noses that look “pinched"
  • An open soft spot on the head
  • Teeth that come in late

As the condition advances, symptoms that are less obvious to a parent begin to develop, including hip dislocation, cataracts, arthritis, plaque buildup in the arteries, and heart disease. Some children with progeria have strokes.

Despite these physical problems, intellect is not affected, and children with progeria are generally as intelligent as their peers.

Diagnosis and Tests

How is progeria diagnosed?

The gene that causes progeria was identified in 2003, and a genetic test was created that can confirm if a child’s symptoms are caused by progeria. The test requires taking a blood sample from the child. (Before this test became available, physicians could only diagnose progeria based on their observations and X-rays.)

If your doctor has reason to believe your child may have progeria, he or she can contact the Progeria Research Foundation. The foundation’s medical director will review the case and can arrange for the test to be done at no cost to families. Results typically come in 2 to 4 weeks.

Management and Treatment

What is the treatment for progeria?

There is no cure for progeria, but several drugs are being studied for treating it.

Physical therapy may help these children achieve good range of motion, balance and posture, and reduce pain in the hips and feet. Occupational therapy can help them develop in functional areas such as eating, maintaining personal hygiene and handwriting.

Children who have progeria can benefit greatly from care to help them live as healthy and comfortable a life as possible. This typically includes:

  • Monitoring for heart disease: This includes regular tests such as echocardiograms and checking blood pressure. Low-dose aspirin therapy and statin drugs can help reduce some risks of heart disease.
  • Imaging studies (such as magnetic resonance imaging, or MRI): These can be used to watch for strokes, or to check on headaches or seizures, both of which are common in these children.
  • Regular eye exams: Some children with progeria have eye problems, including farsightedness or dry eyes (because their eyelids may not close completely). As the condition advances, they may also develop cataracts. These children may have thinner eyebrows and eyelashes, which can make it more likely that irritants can get in their eyes. Also, some children have a strong sensitivity to light and may be advised to wear sunglasses in some settings.
  • Hearing tests: Children who have progeria may have hearing loss that can be improved with hearing aids.
  • Regular dental exams: Children with progeria are more likely to have dental problems such as cavities, severe crowding, delayed arrival of teeth and recessed gums.
  • Monitoring for skin problems: These are often the first signs of progeria, and can include dark spots or bulges on the skin, hair loss, itching and skin tightness that restricts motion and can make it difficult to breathe or digest food.
  • Monitoring of bone health: Children with progeria may have several issues related to bone growth and development, as well as joint problems.

Children with progeria need adequate nutrition to grow. Some may need supplemental nutrition (including a feeding tube). Keeping children with progeria well-hydrated can help reduce the risk of sudden neurological problems. Talk to your child’s doctor about healthy ways to encourage your child to get enough calories and hydration.

What can parents do to help their family if their child has progeria?

Parents of a child who has progeria should try to create as normal a home life as possible. Try to include the child in as many activities as possible, and be sure to not let other children in the family feel overlooked.

Be honest but age-appropriate with the entire family when discussing the fact that your child with progeria will only live to a certain age. Counseling sessions may be helpful at various times.

Also, talk to your child about the fact that some people will be taken back by seeing him or her, and discuss how your child should respond to stares and whispers.

Outlook / Prognosis

If my child has progeria, will my future children have it?

Progeria is caused by an extremely rare genetic change, and usually does not run in families. The overall odds of having a child with progeria are about 1 in 4 million. However, once a person has had a child with progeria, there is a 2 to 3 percent higher chance of having another child with it because they might have the genetic trait for progeria without actually having the disease. People who have had a child with progeria can undergo genetic testing to learn their chances of having another child with the disease.

Living With

Can a child with progeria attend school?

Many children with progeria attend school, although they usually need accommodations to allow them to participate fully and be comfortable and safe. Parents should meet regularly with school administrators, nurses, therapists, teachers and others so that everyone can work together to meet the child’s needs. This includes creating and sharing a plan for how to get the child emergency care if needed at school (such as sudden shortness of breath or chest pain).

Last reviewed by a Cleveland Clinic medical professional on 03/20/2019.

References

  • Progeria Research Foundation. . Accessed 3/25/2019. The PRF Diagnostic Testing Program (https://www.progeriaresearch.org/the-prf-diagnostic-testing-program/)
  • National Human Genome Research Institute. . Accessed 3/25/2019. Learning About Progeria (https://www.genome.gov/11007255/learning-about-progeria/)
  • National Organization for Rare Disorders. . Accessed 3/25/2019.Hutchinson-Gilford Progeria (https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/)

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