What Is Progeria?
Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that results in a child's body aging rapidly. A mutation in the LMNA gene causes it to make an abnormal protein. When cells use this protein, called progerin, they break down more easily, which accelerates the aging process.
The average life expectancy is nearly 15 years old, though with treatment, that average increases to almost 20 years. The disease affects people of all sexes and races equally.
How common is progeria?
About 1 in every 4 to 8 million babies are born with it worldwide. About 400 kids currently live with progeria.
Progeria Symptoms
There are usually no symptoms when a baby is born, but they start to show signs of the disease during their first year. They develop physical traits including:
- Slow height and weight growth
- Below average height and weight
- A small face relative to the size of the child’s head
- Large eyes with eyelids that can’t close all the way
- A small lower jaw
- A thin nose with a "beaked" tip
- Small ears without earlobes
- Veins you can see, particularly on the scalp
- Slow and abnormal tooth growth
- A high-pitched voice
- Loss of body fat and muscle
- Hair loss, including eyelashes and eyebrows
- Thin, wrinkled skin that shows spots
- Fingernails and toenails that are yellowish, thin, easily broken, and curved, if they have nails
- Skeletal abnormalities, like thin and fragile arm and leg bones, thin ribs, and a narrow chest
- Joint deformities
As children with progeria get older, they get diseases you'd expect to see in people age 50 and older, including bone loss, hardening of the arteries called atherosclerosis, and heart disease. Children with progeria usually die of heart attacks or strokes.
Progeria doesn't affect a child's intelligence or brain development. A child with the condition isn't any more likely to get infections than other kids, either.
Similar conditions
A few other diseases also cause premature aging and a shortened lifespan. They include:
Wiedemann-Rautenstrauch syndrome. This was identified in 1977. Since then, an estimated 50 children are known to have been diagnosed with this genetic disorder.
PYCR1-related cutis laxa. This an umbrella term for several genetic conditions that affect fewer than 1 in 1 million children.
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). This genetic disease first shows signs around age 5. People with this disorder can live much longer than those with progeria. One person was known to have lived to at least 62, while case reports have also noted adults in their 30s with MDPL. In 2024, researchers estimated that about 30 people were living with this disorder around the world.
Werner syndrome. This is a genetic disease that typically shows its first signs in adolescence. In addition to premature aging, it increases the risk of certain cancers. The average lifespan is 54 years.
Myotonic dystrophy type 1. This is a genetic disorder that usually does not begin to exhibit symptoms, primarily muscle weakness, until age 20 or so. People with this disorder live an average of 48 to 55 years.
Progeria Causes and Risk Factors
A single gene variant, or gene mutation, causes progeria. Think of each gene as a word that provides instructions to make certain proteins that your body needs to function properly. Some gene variants can be described as a misspelled word, and it’s that misspelling that messes up its instructions.
In progeria, the variant affects a gene called LMNA. Normally, that gene makes a protein called lamin A, which helps form a membrane that holds together the nucleus of each of your cells. The gene variant causes your LMNA gene to make a different protein, called progerin. Instead of maintaining the integrity of a cell’s nucleus, progerin makes the nucleus unstable and prone to damage over time.
Exactly how this speeds up the aging process remains a mystery, but some experts hold that the disease prevents the body from eliminating chemicals called free radicals. As these free radicals accumulate, they damage cells and keep them from working properly. That may result in premature aging.
The variant that triggers progeria is nearly always what’s called a de novo variant. That means that it develops spontaneously and randomly in a sperm cell during conception. It is not a gene variant that runs in the family and gets inherited from a parent. However, parents who have a child with progeria have a 2% to 3% risk of having another child with the disease. That’s because one of the parents has the genetic mutation for progeria in a small amount of their cells but not the disease itself, a condition called mosaicism.
Researchers have not discovered any risk factors for progeria. Some research suggests that risk of the disease may be higher for children of older fathers.
Progeria Diagnosis
The symptoms are noticeable. It's likely that a pediatrician will spot them during a routine checkup.
If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child's height and weight to other kids the same age.
If your pediatrician is concerned, you may need to see a specialist in medical genetics who can confirm the diagnosis with a blood test.
Progeria Treatments
There's no cure for progeria, but researchers are working on finding one. As of now, one drug has been approved by the FDA to slow the disease’s course: lonafarnib (Zokinvy). This medication falls into a class of experimental cancer drugs called farnesyltransferase inhibitors (FTIs). Taking this drug helps people with progeria to gain weight. It also improves their bone and heart health. Studies have shown that the lonafarnib extends the lifespan of people with progeria by an average of 4.5 years.
Other types of drugs also may prove helpful. Current research focuses on developing therapies that will correct the gene variant that causes the disease. Another potential treatment target: reducing the amount of progerin produced by the cells of people with progeria. Early experiments on mice have shown promise.
Though drugs can’t yet cure progeria, some treatments can improve the symptoms of the disease and address its complications, such as heart disease. These include:
- Low-dose aspirin to help prevent heart attacks and stroke
- Statins or other cholesterol-lowering medications
- Blood thinners to prevent blood clots
- Physical therapy to help with movement and daily activities
- Dietary changes that ensure adequate nutrition
- Hearing aids
- Vision care
People with progeria also benefit from regular exams to evaluate their heart health and other aspects of disease progression. The tests used include:
- Echocardiograms and electrocardiograms to monitor heart health
- Magnetic resonance imaging (MRI) and other imaging tests for warning signs of stroke as well as to evaluate common symptoms like headaches and seizures
- Hearing tests
- Eye tests
- Regular visits to a dentist familiar with progeria
- Evaluations of skin problems
- Testing for bone problems
Treatments can help ease or delay some of the disease's symptoms.
Medication and diet changes. Your child's doctor may suggest drugs and changes to your child’s diet to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help. Growth hormone can help build height and weight.
Physical and occupational therapy. A specially planned exercise program can help your child keep moving if they have stiff joints or hip problems.
Surgery. Some children may have an angioplasty, a minimally invasive procedure in which doctors insert a stent to widen an artery to allow blood to flow more easily. Heart valve replacement surgery also may be necessary for people with the disease who develop a narrowed aortic valve, a condition called aortic stenosis. This can happen in those who live longer with the disease as a result of taking lonafarnib.
Living With Progeria
The following tips can help people with progeria live more comfortably:
Stay hydrated. Dehydration, particularly during illness and hot weather, is common in people with progeria. Make sure your child drinks plenty of water and other liquids.
Eat small but frequent meals. Doing so should help to get enough calories, which can be difficult for people with progeria. Focus on nutritious, high-calorie foods. A nutritionist can help develop a healthy eating plan.
Get regular exercise. Your doctor can tell you what types of physical activity will be safe and effective for your child.
Wear comfortable shoes or shoe inserts. Cushioned shoes and inserts can help ease the foot discomfort that can result from lost body fat.
Use sunscreen. Liberally apply broad-spectrum sunscreen with an SPF of at least 30 every 2 hours or more often when swimming or sweating. Cover all exposed skin, including the scalp.
Learn and socialize. Progeria does not impact how well the brain works, and kids with the disease benefit from school, both for learning and the opportunity to be with other kids.
Make adjustments in the home. Lower the height of light switches, faucets, and other things to make them more accessible. This allows for more independence in the home. More comfortable furniture also may be necessary. An occupational therapist can help determine your child’s needs and how to address them.
Get help with coping. Support groups and mental health therapists can help with the emotional burdens of the disease. The Progeria Research Foundation offers a private online community for family, caregivers, and others involved in the disease.
Progeria Complications
This disease causes a variety of complications, including:
Atherosclerosis, or hardening of the arteries. This reduces the flow of oxygen-rich blood, especially in the arteries that supply the heart and brain. People with progeria are most likely to die from complications of atherosclerosis, which include heart attack, heart failure, and stroke.
Joint stiffness, which can make movements difficult
Bone and joint deformities, such as in the hips, collarbones, fingers, and elsewhere
Dental problems, such as delayed growth of teeth and crowding of teeth
Hearing loss
- Eye problems, such as dry eye and vision loss
Takeaways
Progeria is a very rare disease that causes premature aging. With treatment, most people with the disease live an average of about 20 years. No cure exists, but researchers are investigating possible ways to stop the disease.
Progeria FAQs
Who is the oldest person living with progeria?
Sammy Basso, who died in October 2024, was the oldest person. He lived to age 28. Michiel Vandeweert of Belgium turned 26 this year. His 18-year-old sister, Amber, also has progeria.
Do kids with progeria age mentally?
The disease does not impact their intellect. Kids with progeria are likely to be just as sharp as any other kids.
Is progeria painful?
It can be. For example, atherosclerosis can lead to angina, or chest pain caused by insufficient blood flow to the heart. It also can cause painful deformities of the hip joints.
Which gender is most affected by progeria?
No gender is more likely to be affected by progeria than any other. The same is true of race and ethnicity.
Why is progeria so rare?
One reason it occurs so infrequently is that the gene variant that causes it usually does not get passed from parent to child. Instead, it occurs randomly and can’t be predicted.