Progeria- A Rare Premature Aging Disease

Progeria- A Rare Premature Aging Disease

What is progeria?

Progeria is a rare disease that is linked to genetics. It causes a person to age in a premature way. It affects children and at early ages, they look way older than their age. They may look normal and healthy at the start by the time they reach their second birthday, they like an older age person.

There are different types of progeria, but among them, the most frequent and classic type is called as Hutchinson-Gilford progeria syndrome (HGPS). This is linked to a mutation in a particular gene called lamin A (LMNA) gene. It also causes to make the arteries hard in early childhood.

The condition becomes too severe that by the time they age 12 or 14 years of age, their life expectancy nearly ends. They are more likely to develop diseases like atherosclerosis.

If you think it does not exist, know that around the world approximately 134 children from 46 different countries have been diagnosed with progeria. It is also believed that in 4 million, every one child, regardless of his sex and ethnicity is affected by progeria.

It was not known what causes progeria some years ago. In 2003, this gene causing progeria was discovered. So it is only a few years that its causative agent has been discovered.

The treatment may take more studies and research, which means it will surely take time.Progeria is sometimes called “Benjamin Button disease,” which is a name given to it after a fictional character created after Scott Fitzgerald’s fictional character.

But the character is somehow the opposite as he experiences the growth backward. In reality, people with progeria age forward, rapidly.

What causes progeria in children?

Progeria is an aging-related disease that affects children. If you know a little about animal cells, there is the main structure called nucleus. In affected children, this otherwise healthy nucleus shows an aberrant morphology. The natural shape is somehow uniform.

Progeria is a genetic condition and the reason why it occurs is a mutation at the genetic level. A specific gene that encodes for lamin A, protein is linked with it. This is the same disease that holds the nucleus of the cell together, thus causing uniformity of it. This protein is also called progerin, for which the disease is called progeria.

This defective gene makes a cellular nucleus unstable. When it is not stable, the uniformity pattern is badly disturbed. The cells are more likely to age early and die young. This explains the earliest symptoms of progeria.

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This genetic change is very rare. There are many people who have this mutation but they do not have any sign of progeria. Even if any of the parents have this genetic mutation but not the disease, he may not always exhibit it to next generation.

It shows that progeria is not affected by family history when it is not dominant. Only when there is a child already suffering from progeria, there is 2% to3% chance that another sibling will be affected by it too. To estimate if the parent has this mutation or not, genetic testing can help.

What are the symptoms of progeria?

It is not possible to predict progeria at early ages. A newborn suffering from progeria may look normal and healthy. He is only likely to show symptoms by the age of 10 months, at earliest and 24 months at late. In between this time, the fast-aging starts to show up.

Other signs of progeria include the following.

  • Limited growth
  • Short Stature
  • High pitch voice
  • Less body fat
  • Less body muscle
  • Hair loss from hair, eyes, and brows
  • Thinning of skin
  • Stiff joints
  • Prominent veins
  • Stroke
  • Wrinkles on skin
  • Smaller jaw bone
  • Bigger head size as compared to the body
  • Abnormal teeth
  • Limited motion
  • High risk of hip dislocation
  • Atherosclerosis, leading to cardiovascular problems

All these symptoms are likely to show up together or one by one. Most children experience a few of them and not all. The connective tissue of the skin becomes tough and hard and starts the leading symptom of appearing like an aged skin.

By the time, the affected children may also show insulin resistance. But their cholesterol and triglycerides are relatively stable.

Unlike the physical features, progeria doesn’t affect brain development. Neither it affects cognitive abilities. It is a genetic disease and it doesn’t produce any risk of infections. Motor skills are unaffected so the children are active in the movement.

Children from all ethnic backgrounds and sexes can have progeria but once they are diagnosed with it, they appear similar to each other due to the obvious physical symptoms.

How to diagnosis it?

A doctor only performs the diagnosis. If he suspects the condition, he will take a closer look at the signs and symptoms, for example, aging, wrinkled skin and hair loss are the most obvious things to notice. He may also recommend testing HGPS. Together all these things make the correct diagnosis of progeria possible.

Is there a treatment for progeria?

There is no cure for progeria. Only occupational and physical therapy can help for improving the stiffness of joints. When the patient suffers from heart problems, the doctor prescribes him nitroglycerin for angina, and sometimes for routine therapy to prevent the congestive heart failure.

For patients with progeria, eating healthy and following an improved lifestyle are significantly important. Rarely a patient of progeria needs a cardiac surgery for the complications caused by symptoms.

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Much of this treatment plan for progeria deals with self-care protocols. The tips include eating different form and types of food in small portions, regular exercise, and physical activity.

Skin protection is also required; the best is to use a sunscreen when going to the sun. Use paddings in shoes to reduce any discomfort in walking.

Research done on progeria

Progeria was considered as an unexplained disease for a long time, it’s recent that a mutated gene is diagnosed which is a possible cause of progeria. There is more research going on to find treatment options for progeria.

One possibility is to try farnesyltransferase inhibitors (FTIs) for progeria. For now, FTIs are under use as a treatment for cancer. However, the experts believe that they may also be helpful in reversing the nuclear abnormality in structure. In this way, they may prevent progeria.

Study results from 2012 are promising that used a first clinical drug trial treatment on children with Progeria, by using an FTI. The positive effects included a better bone structure, gain in weight and improved cardiovascular system.

Scientists are currently interested in understanding the mechanism of action for progeria. It will surely open new perceptions for preventing and treating the condition.

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Life expectancy with progeria

In this special condition of progeria, genetic factors increase the risk to get progressive heart disease. All this start at a very early age so children with progeria experience so many cardiovascular problems. It includes hypertension, stroke, angina, high blood pressure, heart failure and much more.

All these conditions are linked with aging. Mostly these symptoms show up in older ages. Only in progeria, it affects children. Progeria reduces the life expectancy of affected children. It is somewhat between 8 years and 21 years and the average age is 14.6 years.

Nancy holds a Pharmacy degree from University of Michigan and Masters of Science MS in Infectious Disease and Global Health (MS-IDGH) from Tufts University. She worked as a lecturer for three years before she turned towards medical writing. Her area of interest are infectious diseases; causes, mechanism, diagnosis, treatments and prevention strategies. Most of her writings ensure an easy understanding of uncommon diseases.

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