Home Hutchinson-Gilford progeria syndrome (Progeria)

    Hutchinson-Gilford progeria syndrome (Progeria)


    Definition of Hutchinson-Gilford progeria syndrome (Progeria)

    Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, beginning 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, but some with the disease die younger and some live 20 years or longer.

    There’s no cure for progeria, but ongoing research shows some promise for treatment.

    Symptoms of Hutchinson-Gilford progeria syndrome (Progeria)

    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 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:

    • Hardening and tightening of skin on 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
    • Fragile bones
    • Stiff joints
    • Hip dislocation
    • Insulin resistance
    • Severe progressive heart and blood vessel (cardiovascular) disease

    When to see a doctor

    Call for an appointment with your doctor if your child does not appear to be growing or developing normally, including problems with hair loss, skin changes or slowed growth.


    Researchers have discovered a single gene mutation 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, researchers believe the genetic mutation makes cells unstable, which appears to lead to progeria’s aging process.

    Unlike many genetic mutations, progeria isn’t passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child’s genes are new (de novo).

    Other similar syndromes

    There are, however, other progeroid syndromes that run in families. These inherited syndromes cause rapid aging and 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 begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.

    Complications of Hutchinson-Gilford progeria syndrome (Progeria)

    Children with progeria usually develop severe hardening of the arteries. This is a condition in which the walls of their 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, nearsightedness and increased cancer risk — do not develop as part of the course of progeria.

    Preparing for your appointment

    Progeria is usually detected in infancy or early childhood when a baby first shows the characteristic signs of premature aging. It’s likely that your family doctor or your child’s pediatrician will notice these signs and symptoms during regular checkups.

    If you first notice changes in your child that could be signs and symptoms of progeria, make an appointment with your child’s doctor. 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

    Before your appointment:

    • Make a list of any signs and symptoms your child has been experiencing, and for how long.
    • Prepare questions you want to ask your doctor.
    • Ask a trusted family member or friend to join you for your child’s appointment. It may be difficult to focus on what the doctor says after hearing the diagnosis. Take someone along who can offer emotional support and help you remember the information.

    For progeria, some basic questions to ask your doctor 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?
    • What can be done to relieve my child’s symptoms?
    • 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 progeria?

    What to expect from your doctor

    Your doctor will perform a thorough physical exam of your child, including:

    • 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.

    During follow-up visits, your child’s weight and height will be 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.

    Tests and diagnosis

    Doctors may suspect progeria based on signs and symptoms characteristic of the syndrome. To confirm the diagnosis, your doctor will order genetic testing. A genetic test for LMNA mutations can confirm the diagnosis of progeria.

    Treatments and drugs

    There’s no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child’s condition.

    Certain therapies may ease or delay some of the signs and symptoms. They 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 or anticoagulants to help prevent blood clots. The doctor may discuss the option of using growth hormone to help increase height and weight.
    • Physical and occupational therapy. These therapies may help with joint stiffness and hip problems to help your child to remain active.
    • Extraction of primary teeth. Your child’s permanent teeth may start coming in before the baby (primary) teeth fall out. Pulling out some primary teeth may prevent overcrowding and encourage proper positioning of the permanent teeth.

    Investigational treatment

    Current research is being done 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.
    • Performing human clinical trials using drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, but may be effective for treatment of progeria.
    • Testing other drugs for treatment of progeria.

    Lifestyle and home remedies

    Some steps you can take at home that may help your child include:

    • 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 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 to increase calorie intake.
    • Provide opportunities for regular physical activity. Check with your child’s doctor to learn which activities are best 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 opportunities. Progeria won’t affect your child’s intellect, so he or she can attend school at an age-appropriate level.

    Coping and support

    Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, 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.

    In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you’ll be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child’s condition. If a group isn’t for you, talking to a therapist or clergy member may be beneficial.

    Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area. Because progeria is so rare, you may not be able to find a progeria-specific support group, but you may be able to find a group for parents of children with chronic illness. The Progeria Research Foundation may be able to help you connect with other families coping with progeria. The Foundation can be reached at 978-535-2594.

    Helping your child cope

    If your child has progeria, he or she is also likely to experience fear and grief as awareness grows that progeria shortens life span. Your child eventually will need your help coping with the concept of death, and may have a number of difficult but important questions about spirituality and religion. Your child may also ask questions about what will happen in your family after he or she dies.

    It’s critical that you are able to talk openly and honestly with your child, and offer reassurance that’s compatible with your belief system. Ask your doctor, therapist or clergy member to help you prepare for such conversations with your child. Friends who you meet through support groups also may be able to offer valuable guidance.

    Your child might also benefit from talking to a therapist or clergy member.

    SOURCEMayo Clinic
    Previous articleUlcer, duodenal (Peptic ulcer)
    Next articleUrethral stricture