Progeria is an extremely rare, progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.
Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life.
Children with progeria generally appear normal at birth. During the first year, signs and symptoms, such as slow growth 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 13 years. Some with the disease may die younger and others may live longer, even up to 20 years.
There's no cure for progeria, but ongoing research shows some promise for treatment.
Usually within the first year of life, growth of a child with progeria slows markedly, but motor development and intelligence remain normal.
Signs and symptoms of this progressive disorder include a distinctive appearance:
- Slowed growth, with below-average height and weight
- Narrowed face, small lower jaw, thin lips and beaked nose
- Head disproportionately large for the face
- Prominent eyes and incomplete closure of the eyelids
- Hair loss, including eyelashes and eyebrows
- Thinning, spotty, wrinkled skin
- Visible veins
- High-pitched voice
Signs and symptoms also include health issues:
- Severe progressive heart and blood vessel (cardiovascular) disease
- Hardening and tightening of skin on the trunk and extremities (similar to scleroderma)
- Delayed and abnormal tooth formation
- Some hearing loss
- Loss of fat under the skin and loss of muscle mass
- Skeletal abnormalities and fragile bones
- Stiff joints
- Hip dislocation
- Insulin resistance
When to see a doctor
Progeria is usually detected in infancy or early childhood, often at regular checkups, when a baby first shows the characteristic signs of premature aging.
If you notice changes in your child that could be signs and symptoms of progeria, or you have any concerns about your child's growth or development, make an appointment with your child's doctor.
A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable. This appears to lead to progeria's aging process.
Unlike many genetic mutations, progeria is rarely passed down in families. The gene mutation is a rare, chance occurrence in the majority of cases.
Other similar syndromes
There are other progeroid syndromes that do run in families. These inherited syndromes cause rapid aging and a shortened life span:
- Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
- Werner syndrome, also known as adult progeria, begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.
There are no known factors, such as lifestyle or environmental issues, which increase the risk of having progeria or of giving birth to a child with progeria. Progeria is extremely rare. For parents who have had one child with progeria, the chances of having a second child with progeria are about 2 to 3 percent.
Children with progeria usually develop severe hardening of the arteries (atherosclerosis). This is a condition in which the walls of the arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including:
- Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure
- Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in stroke
Other health problems frequently associated with aging — such as arthritis, cataracts and increased cancer risk — typically do not develop as part of the course of progeria.
Doctors may suspect progeria based on signs and symptoms characteristic of the syndrome. A genetic test for LMNA mutations can confirm the diagnosis of progeria.
A thorough physical exam of your child includes:
- Measuring height and weight
- Plotting measurements on a normal growth curve chart
- Testing hearing and vision
- Measuring vital signs, including blood pressure
- Looking for visible signs and symptoms that are typical of progeria
Don't hesitate to ask questions. Progeria is a very rare disease, and it's likely that your doctor will need to gather more information before determining next steps in caring for your child. Your questions and concerns can help your doctor develop a list of topics to investigate.
There's no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child's condition.
During medical visits, your child's weight and height is measured and plotted on a chart of normal growth values. Additional regular evaluations, including electrocardiograms and dental, vision and hearing exams, may be recommended by your doctor to check for changes.
Certain therapies may ease or delay some of the signs and symptoms. Treatments depend on your child's condition and symptoms. These may include:
- Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
- Other medications. Depending on your child's condition, the doctor may prescribe other medications, such as statins to lower cholesterol, drugs to lower blood pressure, anticoagulants to help prevent blood clots, and medications to treat headaches and seizures.
- Physical and occupational therapy. These therapies may help with joint stiffness and hip problems to help your child remain active.
- Nutrition. Nutritious, high-calorie foods and supplements can help maintain adequate nutrition.
- Dental care. Dental problems are common in progeria. Consultation with a pediatric dentist experienced with progeria is recommended.
Potential 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 disease to understand how it progresses. This may help identify new treatments.
- Studying ways to prevent heart and blood vessel disease.
- Performing human clinical trials using drugs known as farnesyltransferase inhibitors (FTIs), such as lonafarnib, which were developed for treating cancer, but may be effective for treatment of progeria by helping with weight gain and increased flexibility of blood vessels.
- Testing other drugs for treatment of progeria.
Here are some steps you can take at home to help your child:
- Make sure your child stays well-hydrated. Dehydration can be more serious in children with progeria. Be sure your child drinks plenty of water, 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 increase calorie intake. Add healthy, high-calorie foods and snacks or supplements as needed.
- Provide opportunities for regular physical activity. Check with your child's doctor to learn which activities are appropriate for your child.
- Get cushioned shoes or shoe inserts for your child. The loss of body fat in the feet can cause discomfort.
- Use sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 15. Apply sunscreen generously, and reapply every two hours — or more often if your child is swimming or perspiring.
- Make sure your child is up to date on childhood immunizations. A child with progeria isn't at increased risk of infection, but like all children, is at risk if exposed to infectious diseases.
- Provide learning and social opportunities. Progeria won't affect your child's intellect, so he or she can attend school at an age-appropriate level. Some adaptations for size and ability may be needed.
- Make adaptations. You may need to make some changes at home that enable your child to have some independence and to be comfortable. These can include household changes so that your child can reach items such as faucets or light switches, clothes with special closures or in special sizes, and extra padding for chairs and beds.
Learning that your child has progeria can be emotionally devastating. Suddenly you know that your child is facing many difficult challenges and a shortened life span. For you and your family, coping with the disorder involves 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 doctor 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 similar to yours. If you can't find a progeria support group, you may be able to find a group for parents of children with chronic illness.
- Other families dealing with progeria. The Progeria Research Foundation may be able to help you connect with other families coping with progeria.
- Therapists. If a group isn't for you, talking to a therapist or clergy member may be beneficial.
Helping your child cope
If your child has progeria, he or she is also likely to increasingly feel different from others as the condition progresses. Over time, fear and grief will likely increase as awareness grows 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 his or her condition, spirituality and religion. Your child may also ask questions about what will happen in your family after he or she dies. Siblings may have these same questions.
For such conversations with your child:
- Ask your doctor, therapist or clergy member 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 his or her siblings, and offer reassurance that's compatible with your belief system and appropriate to the child's age.
- Recognize when your child or his or her siblings might benefit from talking to a therapist or clergy member.
It's likely that your family doctor or your child's pediatrician will notice signs and 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 dosages of any medications, vitamins, herbs or other supplements.
- Questions you want to ask the doctor.
Some basic questions to ask the doctor 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 underway for which my child may be eligible?
- Do you recommend that my child see a specialist?
- How can I find other families who are coping with this condition?
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on.
- When did you first notice that something may be wrong?
- What signs and symptoms have you noticed?
- Has your child been diagnosed with any notable diseases or conditions? If so, what was the treatment?
- How is your family coping?
January 22nd, 2020