Progeria

Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life.

Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear.

Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years.

There's no cure for progeria, but new treatments and research show some promise for managing symptoms and complications.

Usually within the first year of life, you'll notice that your child's growth has slowed. But motor development and intelligence are not affected.

Symptoms of this progressive disorder cause a distinctive appearance. They include:

• Slowed growth and poor weight gain, with below-average height and weight.
• Lack of fat that's stored just beneath the skin.
• Head that is large compared with the face.
• Small jaw, chin and mouth and thin lips.
• Thin, curved nose with a slight hook at the end, which may look like 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.

Symptoms also include health issues:

• Severe progressive heart and blood vessel disease, also known as cardiovascular disease.
• Hardening and tightening of skin.
• Delayed tooth formation and tooth shape that is not usual.
• Some hearing loss.
• Loss of fat under the skin and loss of muscle.
• Problems with the growth and development of bones.
• Joint problems, including stiff joints.
• A hip that's forced out of the correct position, known as hip dislocation.
• Dental problems.
• No significant progression of puberty.
• Insulin resistance, which means the body doesn't respond well to insulin made by an organ called the pancreas.

When to see a doctor

Progeria is usually found in infancy or early childhood. This often happens at regular checkups, when a baby first shows the distinctive signs of premature aging.

If you notice changes in your child that could be symptoms of progeria, or you have any concerns about your child's growth or development, make an appointment with your child's health care provider.

A change in one gene causes progeria. This gene, known as lamin A (LMNA), makes a protein that's needed to hold the center of a cell, called the nucleus, together. When the LMNA gene has a change, a flawed lamin A protein called progerin is made. Progerin makes cells unstable and appears to lead to progeria's aging process.

The changed gene that causes progeria is rarely passed down in families. In most cases, the rare gene change that causes progeria happens by chance.

Other similar syndromes

There are other syndromes that may include problems with progerin-like proteins. These conditions are called progeroid syndromes. The changed genes that cause these syndromes are passed down in families. They cause rapid aging and a shortened life span:

• Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with symptoms of aging apparent at birth.
• Werner syndrome, also known as adult progeria, begins in the teen years or early adulthood. It causes premature aging and conditions more common in old age, such as cataracts and diabetes.

There are no known factors, such as lifestyle or environmental issues, that increase the risk of having progeria or giving birth to a child with progeria. But the age of the father has been described as a possible risk factor. Progeria is extremely rare. If you've had one child with progeria, the chances of having a second child with progeria are slightly higher than the general population but are still low.

If you have a child with progeria, a genetic counselor can give you information about the risk of having other children with progeria.

Severe hardening of the arteries, known as atherosclerosis, is common in progeria. Arteries are blood vessels that carry nutrients and oxygen from the heart to the rest of the body. Atherosclerosis is a condition in which the walls of the arteries stiffen and thicken. This often limits blood flow. The condition especially affects arteries in the heart and brain.

Most children with progeria die of complications related to atherosclerosis, including:

• Problems with blood vessels that supply the heart, resulting in heart attack and congestive heart failure.
• Problems with blood vessels that supply the brain, resulting in stroke.

Other health problems frequently linked with aging — such as an increased cancer risk — usually don't develop as part of progeria.

Health care providers may suspect progeria based on symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis of progeria.

A thorough physical exam of your child includes:

• Measuring height and weight.
• Putting measurements on a growth curve chart.
• Testing hearing and vision.
• Measuring vital signs, including blood pressure.
• Looking for visible symptoms of progeria.

Feel free to ask questions during your child's exam. Progeria is a very rare condition. Your health care provider may need to gather more information before deciding on the next steps in caring for your child. Discussion of your questions and concerns will be helpful.

There's no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child's condition.

During medical visits, your child's weight and height are measured and put on a chart that shows average measurements of children who are your child's age. Routine evaluations often include electrocardiograms and echocardiograms to check the heart, imaging tests, such as X-ray and MRI, and dental, vision and hearing exams.

Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child's condition and symptoms. These may include:

• Lonafarnib (Zokinvy). This oral medicine helps prevent the buildup of faulty progerin and progerin-like proteins in cells. Preventing this buildup in cells can slow the progression of symptoms that occur in progeria, which can help some children live longer. The medicine is approved by the U.S. Food and Drug Administration for children 1 year and older.
• Low-dose aspirin. A daily dose may help prevent heart attacks and strokes.
• Other medicines. Depending on your child's condition, the health care provider may prescribe other medicines to treat complications. These may include dietary therapy, possibly with statins to help blood vessels and heart function. Also, blood thinners to help prevent blood clots. Medicines to treat headaches and other symptoms may be needed.
• Physical and occupational therapy. Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating.
• Nutrition. A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. Sometimes nutrition supplements are needed to provide extra calories.
• Hearing aids. Although low-frequency hearing loss does not usually affect daily activities, sometimes listening devices or hearing aids are needed.
• Eye and vision care. Not being able to close eyelids completely can cause dry eyes and damage to the surface of the eye. Moisturizing eye products and regular vision care can help.
• Dental care. Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

Future treatment

Current research seeks to understand progeria and identify new treatment options. Some areas of research include:

• Studying genes and the course of the condition to understand how it progresses. This may help identify new treatments.
• Studying ways to prevent heart and blood vessel disease.
• Testing more medicines for treatment of progeria.

Here are some steps you can take at home to help your child:

• Make sure your child drinks plenty of water. Loss of water, called dehydration, can be more serious in children with progeria. Dehydration is when your body doesn't have enough water and other fluids to carry out normal functions. Be sure your child drinks plenty of water and other fluids, especially during an illness, with activity or in hot weather.
• Provide frequent, small meals. Because nutrition and growth can be an issue for children with progeria, giving your child smaller meals more often may help provide more calories. Add healthy, high-calorie foods and snacks as needed. Talk with your health care provider about nutritional supplements. Visits with a registered dietitian can help.
• Provide opportunities for regular physical activity. Check with your child's health care provider to learn which activities are safe and healthy for your child.
• Get cushioned shoes or shoe inserts for your child. Loss of body fat in the feet can cause discomfort.
• Use sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 30. Apply sunscreen generously, and reapply it every two hours. Apply sunscreen more often if your child is swimming or sweating.
• Make sure your child is up to date on childhood vaccinations. A child with progeria isn't at increased risk of infection. But like all children, your child is at risk if exposed to infectious diseases.
• Provide learning and social opportunities. Progeria won't affect your child's intellect. Your child can attend school at an age-appropriate level. Some adjustments for size and physical ability may be needed.
• Make changes at home to allow independence. You may need to make some changes at home that allow your child to have some independence and to be comfortable. These can include ways to allow your child to reach items such as faucets or light switches. Your child may need clothes with special closures or in special sizes. Extra padding for chairs and beds can increase comfort.

Learning that your child has progeria can be emotionally upsetting. Suddenly you know that your child is facing many difficult challenges and a shortened life span. For you and your family, coping with the condition can involve a major commitment of physical, emotional and financial resources.

Some helpful resources include:

• Support network. Your health care team, family and friends can all be a valuable part of your support network. Also, ask your health care provider about self-help groups or therapists in your community. Your local health department, public library and trustworthy sources on the internet may be helpful in finding resources.
• Support groups. In a support group, you'll be with people who are facing challenges like yours. If you can't find a progeria support group, you may be able to find a group for parents of children with long-term illness.
• Other families dealing with progeria. The Progeria Research Foundation may be able to help you connect with other families who have a child with progeria.
• Therapists. If a group isn't for you, talking to a therapist or someone in your faith community may help.

Helping your child cope

With progeria, your child is likely to feel different from others as the condition progresses. Over time, emotions and questions may change as your child becomes aware that progeria shortens life span. Your child will need your help coping with physical changes, special accommodations, other people's reactions and eventually the concept of death.

Your child may have difficult but important questions about progeria, spirituality and religion. Your child also may ask questions about what will happen in your family after they die. Siblings may have these same questions.

For such conversations:

• Ask your health care provider, therapist or leader from your faith to help you prepare.
• Consider input or guidance from friends you meet through support groups who've shared this experience.
• Talk openly and honestly with your child and your child's siblings. Offer reassurance that fits with your belief system and is appropriate to the child's age.
• Recognize when your child or siblings might benefit from talking to a therapist or a faith leader.

It's likely that your family health care provider or your child's pediatrician will notice symptoms of progeria during regular checkups. After evaluation, your child may be referred to a medical genetics specialist.

Here's some information to help you prepare for your appointment.

What you can do

To get ready for your appointment, make a list of:

• Any signs and symptoms your child has been experiencing, and for how long.
• Your child's key medical information, including recent illnesses, any medical conditions, and the names and doses of any medicines, vitamins, herbs or other supplements.
• Questions you want to ask the health care provider.

Some questions to ask may include:

• What is likely causing my child's signs and symptoms?
• Are there any other possible causes?
• What kinds of tests does my child need?
• Are treatments available for this condition?
• What are the complications of this condition?
• Are my other children or family members at increased risk of this condition?
• Are there clinical trials that my child might be able to join?
• Do you recommend that my child see a specialist?
• How can I find other families who have a child with this condition?

What to expect from your doctor

Your health care provider is likely to ask you several questions, such as:

• When did you first notice that something may be wrong?
• What signs and symptoms have you noticed?
• Has your child been diagnosed with any diseases or conditions? If so, what was the treatment?
• How is your family coping?

Be ready to answer questions so that you'll have time to talk about what's most important to you.