Progeria

Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition that causes children to prematurely age. It affects around one in four million newborns worldwide. At birth, children generally appear healthy but by one year of age, changes to growth and development begin to occur. Children typically weigh less and are shorter than others their age. A distinctive appearance develops, including aged-looking skin, baldness and a small face. As children age, progressive atherosclerosis and heart disease develops, which becomes fatal at an average age of 13-14 years. There is currently no treatment or cure for progeria.

Causes

Progeria is caused by a mutation of the gene LMNA (pronounced Lamin A). In progeria, the LMNA gene is altered at a very specific point, which not only makes the condition very rare, but causes a range of symptoms associated with premature ageing.

The mutation occurs at random, which means that parents and siblings are virtually never affected by the condition.

Signs and symptoms

Signs and symptoms of progeria usually appear from around the age of one year. These can include:

• Weighing less and being shorter than others their age;
• Aged-looking skin;
• Hair loss and baldness;
• Visible veins;
• Small face with a pinched nose relative to head size, and;
• Delayed tooth formation.

A child with progeria. 

As children grow older, accelerated ageing occurs, which involves symptoms that would more often occur in older people. These can include:

• Joint stiffness;
• Hip dislocations;
• Atherosclerosis, which is the narrowing and hardening of arteries, and;
• Heart disease.

Methods for diagnosis

It is possible to diagnose progeria using a genetic test. This involves taking a blood sample to see if there is a mutation in the LMNA gene.

Types of treatment

Currently there is no cure for progeria; however, research is ongoing. There are medications available to manage some symptoms and improve quality of life. These include cholesterol-lowering medications to slow atherosclerosis and osteoporosis medication to increase bone density. Low-dose aspirin can also be given to reduce the risk of complications associated with progeria, including heart attack and stroke.

Recently, a clinical trial looking at the effectiveness of a drug called lonafarnib in children with progeria was conducted. The medication was originally developed to treat cancer. The research found that all participants in the trial benefitted from the drug in one or more of the following ways - weight gain, better hearing, improved bone structure and increased flexibility of blood vessels. It isn't a cure, but may improve certain outcomes.

Potential complications

Children born with progeria have an increased risk of heart attack and stroke that can occur at any age. It is therefore important to frequently monitor blood pressure and have regular echocardiogram and electrocardiogram (EGC) tests to evaluate heart function. Brain imaging is also possible to look for any abnormalities, including abnormal blood vessel formation or blood vessel narrowing.

Prognosis

Progeria causes accelerated ageing that becomes fatal at a young age. Treatment aims to manage symptoms and increase quality of life by continuously monitoring health and limiting the chance of life-threatening complications including heart attack and stroke. Currently there is no cure for progeria.

Prevention

Progeria is caused by an extremely rare mutation to the gene LMNA that occurs randomly and therefore cannot be prevented.