What are the Symptoms of Progeria

Progeria: children in the body of old people

by Aileen Apitz

A twelve-year-old trapped in the body of an 80-year-old - that sounds like the story board of a new Hollywood drama that will soon conquer the hearts of moviegoers. But that's by no means: For around 50 children worldwide, the Hutchinson-Gilford-Progeria Syndrome (HGPS) is a brutal reality. They suffer from the gene mutation progeria, with the dire consequence of aging prematurely. The aging process is five to ten times faster in those affected than in healthy people. "Old children" - as they are popularly known - reach an average age of 13 years and die of typical age-related illnesses such as heart attacks or strokes.

definition

Literally translated, progeria means "early age". The disease is extremely rare and can be diagnosed in both adults (type II) and children (type I). The HGSP is based on a genetic change (mutation) in the protein gene Lamin A and is therefore incurable. Due to the shortening of the gene, the nuclear envelope changes so much that the cell nucleus is deformed and cell division can no longer function properly.

causes

In Hutchinson-Gilford-progeria syndrome, a base in the genetic code of the lamin gene is swapped. This change affects the production of certain proteins in progeria patients. The lamin gene is usually responsible for the stability of the inside of the cell nucleus. However, the shortened version weakens the cell nucleus and hinders processes such as cell division. According to the opinions of experts, progeria is a random change in the genetic make-up. Almost exclusively isolated cases are known, in this case one also speaks of spontaneous mutations.

Symptoms

When the children are born, there are initially no recognizable symptoms of progeria, but it is noticeable within the first year of life that they are not growing as well as their peers. However, they age rapidly: hair loss, dry and rough skin are typical signs of HGPS. Due to the parchment-like skin surface, the veins on the head in particular protrude strongly. The voice of affected children is usually very thin and squeaky - in combination with a characteristically small face and a protruding nose - these symptoms are particularly noticeable. Since there is no subcutaneous fat tissue, progeria patients appear very bony and thin. They are also plagued by classic age-related diseases such as osteoarthritis and osteoporosis - broken bones and misaligned joints are not uncommon even without particular stress. Since they are also prone to atherosclerosis at an early stage, there is an increased risk of vascular occlusion. Other symptoms: changes in the teeth, nails and a heavily bulging stomach.

diagnosis

The diagnosis of progeria type I is usually made in the first few years of life. Although affected infants do not show any noticeable signs at first, the first symptoms become noticeable during the first year of life. The unusual signs associated with progeria usually lead to a quick diagnosis. A genetic test and X-ray examinations confirm the findings.

With the help of prenatal diagnostics, it is currently possible to diagnose type I progeria before birth.

therapy

A causal therapy for HGPS type I is not possible. However, symptomatic treatment can provide relief to the little patient and prevent complications as the disease progresses. Physiotherapy is used to strengthen muscles and joints and improve general blood flow. Special bath products and lotions offer thin, porous skin more protection. In exchange with other affected persons and their families, old children experience emotional support, which can significantly improve their quality of life.

Drug treatment methods and drug combinations with farnesyl transferase inhibitors (FTI) are still largely in research and development and initially confirm an increase in life expectancy in animal experiments.

In the meantime, the farnesyl transferase inhibitor has occasionally been used in the therapy of children. The administration of the active ingredient for at least two years resulted in notable improvements in the test subjects such as weight gain, improved hearing, a more stable bone structure or more elastic blood vessels.

Acetylsalicylic acid, or ASA for short, is also used in progeria therapy due to its inhibition of natural blood coagulation. This is because the risk of vascular occlusions and the associated heart attacks and strokes, as they are known for HGPS, can be reduced.