What is Progeria, causes, in Brazil and life expectancy


What is progeria?

Hutchinson-Gilford syndrome, better known as progeria or HGPS, is a disease of genetic origin, progressive and without cure, characterized by the premature and accelerated aging of its carrier, which occurs about 7 times faster than usual.

The name progeria is given by the union of two Greek suffixes “pro”, which means precocious and “gēras”, which means aged, thus forming  precocious aged .

Affecting 1 in 4 to 8 million births worldwide, this disease was first identified by Jonathan Hutchinson in 1886, when describing the case of a child who had a congenital absence (since birth) of hair.

Progeria is so rare that since its discovery, only 132 cases have been reported in the medical literature.

Later, in 1904, Hastings Gilford analyzed another case that closely resembled the one described by Jonathan. Thanks to the studies carried out by both researchers, the alternative name of the disease is given, Hutchinson-Gilford syndrome .


Progeria is caused by a genetic mutation at the time of fertilization, that is, at the union stage between the egg and the sperm, or during the mitosis (cell division) of the fertilized egg. Therefore, this disease is not hereditary, since the mutation occurs at the moment of formation of the embryo itself.

It is believed that progeria can be both autosomal recessive and autosomal dominant.

A recessive gene is one that does not express itself in DNA. For it to make its characteristics visible, it is necessary to cross with another gene that is equally recessive. Meanwhile, the dominant gene is able to express itself, that is, without the need for another identical gene.

However, it is not hereditary . A child with both parents without the progeria gene may suffer from the disease. The only way this disease has a hereditary cause is if a person with the disease had a child. However, as they do not reach adulthood, this does not occur.

Recent studies claim that this disease is totally dominant, that is, the gene with progeria present in the egg or in the sperm alone, is capable of influencing the child’s DNA.

In 2003, researchers were the closest to discovering its definitive cause since it was first reported. According to scholars, the main cause of this anomaly is a mutation of the LMNA gene, which is located on chromosome 1.

The  LMNA gene is responsible for encoding proteins , such as lamina A. This protein is responsible for strengthening the protection of the cell nucleus, being a fundamental component for the nuclear coating membrane.

In the case of patients with progeria, a mutation occurs that makes the production of blade A protein abnormal. Because it is responsible for the lining of the nucleus, the anomalous protein leaves it unstable, which causes progressive damage to the nucleus. This results in premature cell death.

This is the most widely accepted study. However, there are two other theories about the cause of the disease:

Telomeres theory

Telomeres are structures organized by repetitive rows of proteins and non-coding DNA. They have as their main function to prevent the wear of the genetic material.

The telomere theory is to believe that children with progeria have shortened telomeres, which causes their cells to rapidly age.

In each replication of these defective cells, the chromosomes lose a small sequence of telomeres. Thus, what was already shortened becomes even more deficient, causing the acceleration of aging.

Helicase theory

The helicase enzyme is part of the DNA duplication process. According to this theory, children with progeria have an irregular enzyme, causing replication to be abnormal, which leads to premature aging.

Symptoms: clinical features of progeria

At birth, there is nothing to indicate the signs of progeria. However, after 24 months of age, children begin to show abnormal characteristics. The most reported are:

Premature aging

The child with progeria ages, on average, 7 times faster than a normal child. There are cases where this number drops to 5 and others when it increases to 10.

Apparently, children are born healthy, however, between 18 and 24 months of age, they begin to show symptoms of premature aging.

Weakened body structure

Who suffers from this disease is affected by the body structure of a child with 2 years of age throughout the first 10 years of life.

Irregular dentition

Baby teeth take 4 times longer to appear, but fall quickly to make way for permanent teeth. In the middle of this process, the child is for a long time without complete dentition, which is harmful to their food.


Little known by its name, this disease is inflammatory and chronic. In it, the formation of atheromas occurs, which are plaques composed of fats and fibers that form on the walls of blood vessels. They grow in such a way that they can obstruct the passage of blood.

Therefore, it is fatal especially in cases where it affects arteries of the heart or brain, as it interrupts blood circulation and these organs resist a few minutes without the oxygen that the blood carries.

Aesthetic characteristics

Like Down syndrome, progeria affects the individual aesthetically. The main features are:

  • Head disproportionate to the size of the body and face;
  • Protruding eyes and difficulty to close the eyelids;
  • Clear and wrinkled skin;
  • Scarce and white hair or hair loss (alopecia);
  • Thin nails;
  • Terminal finger hypoplasia (poorly developed fingertips);
  • Joint deformity;
  • Thin lips;
  • Small ear lobe;
  • Big, pointed nose;
  • Spots on the skin;
  • Prominent cranial veins;
  • Absence of eyebrows and eyelashes.

Unusual complications for age

With premature aging, the child has common diseases for the elderly, such as:

  • Osteoporosis;
  • Joint pain;
  • Umbilical hernia (protrusion in the navel);
  • Diabetes;
  • Increased risk of heart attack, stroke and stroke.

Medical characteristics

  • High cholesterol;
  • Spleen dilation;
  • Undeveloped genitals (hypogonadism);
  • Acute voice;
  • Hip dislocation;
  • Absent or abnormal clavicle;
  • Absence of weight gain;
  • Sensitivity to the sun.

How is progeria diagnosed?

The diagnosis is made mainly in a clinical way, being carried out in children who show manifestations of the disease between their first and second year of life.

There is still no test that is able to identify the progeria without observing the symptoms first.

The forms of observation are made through:

Genetic testing

After the progeria hypothesis has been raised, the doctor requests a genetic test to collect the LMNA genes and determine whether or not there are abnormalities present.

Urine tests

There are tests that, despite not giving the definitive diagnosis, point to it. This is the case for tests that indicate increased excretion of hyaluronic acid in urine , an important connective tissue substance.

Clinical signs

Some signs that may point to progeria are radiological signs, such as osteoporosis and scoliosis , and histopathological signs such as an increase in melanin and disorganization of collagen fibers. Calcification of aortic valves (heart valves), signs of fibrosis and myocardial infarction may also occur .

Does Progeria have a cure?

Progeria is an anomaly without cure and fatal . Female carriers have an average of up to 14 years of life, while male carriers can reach up to 16 years.

It is essential that the diagnosis is made as early as possible, as the doctor will indicate the most effective treatments to offer a greater quality of life and a possible extension in the life span.


As it is a degenerative disease, there is not much that can be done besides giving a little relief to the carriers. For this, the pediatrician, geneticist and dermatologist  must align the treatment according to the needs presented by the patient.

The most common forms of treatment are:


Some doctors prescribe the daily use of painkillers, as some of these drugs allow the blood to thin and prevent the formation of clots, which can lead to a heart attack or stroke.

It is also possible for the doctor to indicate statins , to reduce cholesterol, or growth hormones , if the child is very underweight considered to be minimally normal for his age group and clinical condition.


People suffering from progeria have several complications with their joints. In this case, the function of physiotherapy is to relieve inflammation of the joints and strengthen the muscles, which helps to prevent fractures.


The surgeries aim to treat or prevent the most serious problems, such as clots in the heart.

Experimental treatment

There are some substances that are known to combat premature cell aging, but their effects on progeria have not been fully proven.

The drugs administered experimentally are:

  • Vitamin complexes;
  • Co-enzyme Q-10;
  • Fat acids;
  • Anti-oxidant;
  • Calcium;
  • Nitroglycerine.

Gene therapy

Researchers believe that gene therapy will be the best long-term solution to the disease.

This possible gene therapy is divided into two lines of thought:

Mutant Gene Therapy

In this therapy, the gene that correctly encodes proteins would be inserted in patients with progeria, attaching it to a viral vector. Thus, it is believed that the virus would try to spread through the body and take the modified gene with it.

Two telomere therapy

According to other scientists, it would be enough to inject the telomerase gene directly into the defective cell, then the patient would receive drugs that stimulate the production of telomerase.

So far, neither theory has come to fruition, but scientists continue to seek a cure, so hope should not be given up.

Medicines for progeria

Drug prescriptions vary according to the clinical case of each patient, however, most doctors indicate:

  • Acetylsalicylic acid ;
  • Rosuvastatin Calcium ;
  • Synthroid.


NEVER  self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Searches around the world

As this disease is extremely rare and has such a short life expectancy, it has been difficult and time-consuming to do conclusive research on the topic.

Following the theory of telomeres, a group of researchers from the Department of Biology at the University of Dallas, Texas, is dedicated to the study of telomeres using genetic engineering.

With this, a copy of the gene involved in the production of telomerase was created which, after 24 hours, when introduced into aged cells, produced its own telomerase. After two years, these cells behaved like young cells, which continued to divide (mitosis) and maintained the health of the telomeres.

At the moment, this process is still in laboratories, as it is not known for sure how to do it in humans. The best hypothesis so far would be to introduce the gene next to a viral vector. The problem is that, currently, it is not yet known how to stop the multiplication of defective cells (such as cancer cells).

In another study, a pharmaceutical laboratory in Philadelphia found that mice with an incomplete immune system were able to reverse their condition, almost like self-regeneration of the body’s organs.

According to experts, this is because, in the embryonic phase, there is still no immune system and the cells have the ability to transform into any organ that needs assistance. However, it is not yet known which cells should be used for each organ, so the cure is still far from being discovered.

Cases not Brazil

To date, the cases cataloged in the national territory are those of:

  • Bianca Pinheiro, in Campina Grande Do Sul;
  • Rafaelle Idaline dos Santos, in Campo Limpo Paulista;
  • Mônica C. S, in Caruaru;
  • Nathan Feitosa, in Natal;
  • Jocélia Silva.

Although, in Brazil, there are more cases of female carriers, on a worldwide scale, the numbers point to the opposite. According to data, males are 5 times more affected than females. On ethnic issues, 97% of cases are of Caucasian (white) individuals.

Living together

A child living in the body of an elderly person: this is trying to live with progeria.

Below are some steps that can help:

Encourage social interaction

It is necessary to remember that, regardless of his appearance and physical condition, the child should not be isolated from the world. It is necessary to encourage their social interaction with other children.

Moisturize the skin

Another necessary measure is to take very good care of the skin of a person with progeria, as it is thinner and more sensitive than usual. Try to use body moisturizers  and lots of sunscreen  (with a sun protection factor greater than 15) daily.

Hydrate the body

Regardless of the individual’s clinical condition, staying hydrated is essential. However, children with progeria dehydrate much faster, so it is necessary for water consumption to be high.

Take care of the vaccines

To say that the health of a child with this disease is impaired would be an understatement. Her immune system is much lower than that of a child of the same age, which makes her prone to acquiring various infections.

Invest in comfort

These children lose protective body fat very easily, especially on their feet. This causes discomfort or pain when walking. Invest in shoes with impact protection, as this allows the child to walk freely without pain.

Supporting organizations

Unfortunately, there is no support agency that specializes in progeria in Brazil.

However, there are worldwide organizations that seek out people with the disease around the world in order to conduct research and offer treatment and clarification about the disease.

An example of these organizations is “ No Thanks Needed ”, which, nonprofit, seeks and assists children with progeria all over the world. The work of the organization is so significant that some patients managed to reach 17 years of age, and before starting treatment at the institution, the life expectancy given was 13 years.

In 2014, the organization carried out a major campaign with its ambassador Francine Nash, in Brazil, where they discovered new cases of progeria and referred patients and their families to Boston, in the United States, where the organization’s headquarters is located.

Currently, they have helped 70 children with progeria.


The very clinical features that can diagnose a child with progeria are already complications. However, over the years, carriers may also present:

  • Difficulties to hear;
  • Inflammation of the joints;
  • Fragile bones that suffer constant fractures;
  • Development of diabetes;
  • Cardiovascular problems, such as hypertension and heart failure.

Despite being a debilitating disease, progeria does not influence the child’s intellectual and motor development .

That is, except for complications related to the symptoms presented, the child will have a healthy cognitive development. The same goes for her movements: she will learn to walk and move, but may have difficulties doing them if she suffers from osteoporosis.

Is it possible to prevent progeria?

Because it is a genetic and incurable disease, progeria has no prevention .

The most effective way to guarantee the quality of life of an individual with progeria is to know as much as possible about the condition and how it is possible to alleviate the complications that it adds.

If you suspect a case in the family or among your friends, refer this article and help with an early diagnosis.