Progeria:  the Hutchinson-Gilford-Syndrome

Progeria is a very rare disease. Currently, there are approximately 150 known Progeria-patients worldwide. It is for this reason that only few doctors have encountered the syndrome in medical practice.

Progeria is a genetically determined condition, and one of the most drastic ageing diseases. Since 1886, the year in which Progeria was first described in medical literature, and the discovery of a missing code on the LMNA gene in 2003, a total of some 200 children with Progeria have been examined and described. Since then, a genetic test is available, and a growing number of children with comparable symptoms are diagnosed with a related ageing disease, also caused by faults in the LMNA gene.

In Europe, we know of approximately 30 children with (a form of) Progeria.

The name Progeria means, literally: ‘accelerated ageing’. De disease is named after the English doctors Hutchinson (1886) and Gilford (1904). They were the first to describe the symptoms of Progeria. In medical literature the disease is abbreviated to HGPS: Hutchinson-Gilford Progeria Syndrome. Since we now know there are also other forms of progeria, HGPS is currently also referred to as classic progeria.

The number of children born with HGPS is estimated to be one in 18-20 million. Other individuals are born with a related form of Progeria. In the Netherlands, during the period from 1900 to 2005, over a hundred years, only 5 children with Progeria were born. At this moment, there must be some 400 children living with progeria in the world.

The disease is found everywhere in the world, regardless of race or skin colour. It occurs almost equally among boys and girls. There is an extremely rare possibility of a Progeria child getting a little brother or sister with the Hutchinson-Gilford syndrome; genetic examination can determine whether the parents run the risk of having another child with Progeria.

The cause of the disease is almost always a spontaneous mutation during the first cell divisions in the unborn child. It’s a random mistake, but one with large consequences. Children with Progeria prematurely develop ageing symptoms that are normally only found with old people. The effects of this ageing disease are far-reaching.

On average, life expectancy of the children is around 14.5 years. Half the children die before their fourteenth year due to effects of the disease, though some children live to be far over twenty years old.
As the result of the narrowing of the blood vessels (vasoconstriction), there is already at young age an elevated risk of problems with blood circulation in the brain, and later of having a heart attack. Since 2020, medication called Zokinvy® helps to extend life expectancy in children with HGPS and some other forms of progeria.

Scientists all over the world are researching ageing. The Progeria Research Foundation plays an important role in promoting research and the organization of medical trials.