Fabry disease is an inherited genetic disorder which is more common in men than women because it is inherited on the X chromosome.
This is because women have two X chromosomes while men have only one. If a woman has the faulty gene, she usually has a healthy replica on the second chromosome.
The faulty gene is responsible for getting the body to produce a protein that breaks down and helps get rid of unwanted debris.
Dr Atul Mehta, consultant physician at the Royal Free Hospital, has previously explained the the Daily Mail: ‘We all have red and white blood cells. New ones are constantly being made and old ones broken down and got rid of.
‘If you have this genetic inability to break tissue down, a type of fat accumulates in different cells. This fat accumulates in kidney cells, and patients commonly die of kidney problems in their 30s or 40s.
‘It is also in the cells of the muscles of the heart, resulting in an enlarged heart, and in nerve cells, where it can cause pain and an inability to sweat. It can also build up on the inside of blood vessels, leading to a narrowing of the vessels and the risk of high blood pressure and stroke.’
While the disease is thought to affect thousands in the UK, doctors believe many cases never get diagnosed because symptoms are so unspecific.
Symptoms can develop around the age of five, although they are sometimes picked up only when sufferers are in their 30s.
Because of the non-specific nature of the symptoms, it takes on average ten years to get the right diagnosis.
‘Pains in the tummy, muscles and joints, and hands and feet are common because it affects the nerves,’ says Dr Mehta. ‘There can also be skin rashes and difficulty exercising.
‘Some boys get ribbed at school because they often don’t like sports. They cannot sweat, they develop a rash and they are affected by temperature changes.’
Most men with the condition have small, raised, reddish-purple blemishes on the skin. As they grow older, they may have impaired circulation, leading to early heart attacks and strokes.
Some women who are carriers of the disease also show more minor signs of the condition, especially cloudiness of the cornea.
Dr Mehta’s new treatment is aimed at attacking the disease at its source by giving the patients the protein they lack. Using DNA technology, doctors grew tissue cells in a test tube and then added a corrected form of the faulty gene.
The result is that the tissue starts to produce large amounts of the missing protein.