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Progeria is also known as Hutchinson-Gilford Progeria Syndrome (HGPS) or “Benjamin Button” Disease (named after the main character in the story and film “The Curious Case of Benjamin Button”). It is a rare genetic disease that causes the body to age rapidly. Most children with progeria do not live beyond the age of 13. People of all genders and races are affected equally. About 1 in 4 million babies are born with it worldwide.
What is progeria?
Progeria is the term used to describe a group of disorders that cause rapid aging in children. In Greek, “progeria” means “premature old age.” Children with progeria appear healthy, but by 2 years old they look old too quickly. There are different types of progeria, but the classic type is known as Hutchinson-Gilford progeria syndrome (HGPS). It is caused by a mutation in the lamina A (LMNA) gene and has been associated with severe hardening of the arteries from an early age.
Children with this condition live an average of 14 years because of the likelihood of developing atherosclerosis. Worldwide, 134 children are believed to have progeria in 46 countries. The disease is thought to affect 1 in 4 million newborns of both sexes and all ethnic groups.
Thirty years ago, little was known about the cause of progeria. In 2003, the progeria gene was discovered. This gave hope that one day a cure would be found.
See also: Progeria, a disease in which there is a constant race against time
Progeria – causes
Progeria is. Most children with progeria have a mutation in the gene that encodes lamin A, the protein that holds the cell nucleus together. This protein is also known as progerin.
Defective protein is believed to cause testicular instability. This instability makes cells more susceptible to younger death, leading to symptoms of progeria. This appears to be because of a rare genetic alteration. One parent can have the mutation even if there is no progeria.
If there is already one child with progeria in the family, there is a 2 to 3 percent chance that the rest of the siblings will develop the disease. Genetic testing can show whether a parent has the mutation or not.
See also: The underlying disorders of progeria were discovered
Progeria – types
The most common type of progeria syndrome is the Hutchinson-Gilford progeria syndrome. It is a rare and fatal genetic disorder.
Wiedemann-Rautenstrauch syndrome is another type of progeria syndrome. It appears in babies while they are still in the womb.
The adult version of the progeria syndrome is the Werner syndrome. The symptoms of Werner syndrome usually occur in teenagers. People with this condition may live up to the age of 40 or 50.
Progeria – symptoms
A newborn baby with progeria looks healthy, but features of accelerated aging begin to appear between 10 and 24 months of age.
Symptoms of progeria include:
- slow growth and low stature;
- low fat and muscle tissue;
- hair loss, including eyelashes and eyebrows;
- early signs of skin aging, including thin skin;
- joint stiffness;
- veins visible on the body (especially on the head);
- stroke;
- narrow, wrinkled or shrunken face;
- a head that is large compared to the body;
- small lower jaw;
- slow and abnormal tooth development;
- high-pitched, squeaky voice;
- limited range of motion and possible dislocation of the hip joint;
- generalized atherosclerosis, leading to cardiovascular and heart diseases.
As children with progeria age, they develop diseases that would be expected in people aged 50 and over, including bone loss, hardening of the arteries, and heart disease. Children with progeria usually die from a heart attack or stroke. In tests, the patient may also show signs of insulin resistance, but cholesterol and triglyceride levels should be normal.
Progeria does not affect a child’s brain development or intelligence. A child with this condition is also no more likely to get infections than other children. Motor skills are not affected by progeria, so children with this condition can sit, stand and walk like any other child.
Sick children, regardless of ethnicity, will have a similar appearance.
See also: The 10 most common diseases of the circulatory system
Progeria – diagnostics
In the case of progeria, it is very likely that your pediatrician will notice symptoms during your routine checkup.
If we notice changes in our child that seem to be symptoms of progeria, make an appointment with a pediatrician or family doctor. Our doctor will conduct a physical examination, check hearing and eyesight, measure the pulse and blood pressure, and compare the height and weight of our child with other children of the same age.
If our pediatrician is concerned about your baby’s health, we may need to see a genetics specialist who can confirm the diagnosis with a blood test. It is worth adding that before genetic blood tests were available, doctors could only diagnose progeria by x-rays and observations.
See also: What do our genes say about us?
Progeria – treatment
The cause of progeria has only recently been identified, but work is underway to understand it. One possible treatment for progeria is through farnesyltransferase inhibitors (FTIs). They are currently used to treat cancer, but scientists believe they can reverse the abnormalities in the nuclear structure that are believed to cause progeria.
Studies in mice with symptoms similar to progeria suggest that FTI may provide some improvement. In September 2012, the results of the first clinical trial of FTI treatment of children with progeria were published. The findings showed significant improvements in bone structure, weight gain and cardiovascular health.
In 2014, another study found that an FTI known as lonafarnib could extend life by an average of 1,6 years. Scientists are interested in understanding progeria. This can offer a new perspective on the aging process.
Unfortunately, patients still have to wait for a drug to be developed, and the current treatment for progeria is to alleviate or delay some of the symptoms of the disease.
Your doctor may suggest medications and changes to your child’s diet to lower cholesterol or prevent blood clots. A low dose of aspirin each day can help prevent heart attacks and strokes. In turn, growth hormone can help build height and weight. For example, the FDA, the US Food and Drug Administration, has approved lonafarnib, which prevents the accumulation of defective progerin that can affect the heart.
Physical and occupational therapy plays an equally important role in treating progeria, and can help your baby move around if he has stiff joints or hip problems. Some children may also have coronary artery bypass surgery or angioplasty to slow the progression of heart disease.
Be aware that children with progeria are more likely to become dehydrated, so they need to drink plenty of water, especially when they are sick or hot. More frequent small meals can also help them eat enough. Cushioned shoes or insoles can alleviate discomfort and encourage your child to play and be active. Don’t forget to use a broad-spectrum sunscreen with an SPF of at least 15. Reapply it every 2 hours or longer if your child is sweating or swimming.
Progeria – complications
Children with progeria usually develop a condition called atherosclerosis, which slows down the flow of blood from the blood vessels carrying nutrients and oxygen to the body. Most children with progeria die from heart attacks and strokes associated with atherosclerosis.
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