What is Progeria?

Progeria is the better known name for Hutchinson-Guilford Progeria Syndrome or HGPS. It is sometimes called “rapid aging disease.” This is an extremely rare but always fatal condition that affects all races and economic backgrounds.

Progeria is caused by a mutation in the LMNA gene. Why some children get this gene mutation and not all children is unknown. Progeria is not thought to run in families. The LMNA gene helps the body make a very important protein called Lamin A which helps keeps the nucleus of a cell from falling apart. Patients with progeria lack Lamin A.

What are the Symptoms of Progeria?

Babies are born normal and continue to be normal until they start showing these symptoms between 10 months and two years old:

  • Suddenly stops growing or grows very slowly.
  • Voice becomes more high-pitched.
  • Baldness, which may make head look abnormally large.
  • Body fat melts away, including facial fat which gives the face a wizened appearance.
  • Joint stiffness which can lead to full-flown arthritis.
  • Onset of osteoporosis.
  • Onset of insulin resistance.
  • Deafness in one or both ears.
  • Easily dislocated hips.
  • Onset of heart disease such as angina or enlarged heart
  • One or more strokes.
  • Skin appears like that of an old person instead of a toddler

Progeria Causes

For many years, doctors and medical research scientists did not know what caused progeria. In 2002, geneticists were able to discover that progeria is caused by a genetic mutation.

In children born with progeria, there is a mutation in a gene known as LMNA. This gene produces a protein known as Lamin A. Lamin A is responsible for allowing the individual cells in the human body to hold together. It provides a cell structure. In progeria, the Lamin A protein does not properly perform its function. The structure of the cells begins to collapse causing the rapid and premature aging that are the characteristics of this condition.

Doctors and researches are still not clear why the breakdown occurs so rapidly or why the initial cell mutation occurs. They are also unsure why the first signs and symptoms of the condition do not appear until around or after the time a child reaches the age of two.

How is Progeria Treated?

There is no cure for Progeria. Anyone with this disease will die most often by the age of 14. Current medications and therapies are to help ease the symptoms such as arthritis and heart disease that progeria victims suffer from. What kills a progeria patient is heart disease or complications from heart disease.

The news is full of supposed medical treatments to prolong the lives of progeria patients, but all of these drugs such as lonafarnib are still in the clinical research phase. Participating in such a study may be possible as a last-ditch treatment. These drugs are not cures, but may add one or more years to a child’s life.

Progeria Prevention

While progeria is known to be a genetic disorder, it is unlike most other genetic disorders. Most genetic disorders are passed on to children when one or both parents possess a gene that causes a specific condition. With progeria, this does not occur. There is no familial link at all with progeria. Progeria is a very rare disorder. Estimates are that there are only approximately 200 children alive at any one time who have the condition. With that in mind, the odds of two parents having subsequent children with progeria is extremely low. This fact clearly demonstrates the lack of any familial connection to progeria.

At this time, there is no known way to prevent progeria. Genetic testing of parents would not be of benefit in preventing the condition. As environmental factors are not associated with progeria, prevention through avoidance is not possible.