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Fabry Disease


Fabry disease
Metabolic disorders, lysosomal storage disorder
Fabry disease is a rare, genetic disease which affects the body's ability to break down certain fats. The disease is named after a German dermatologist, Johannes Fabry, who first described the disease in 1898. An English dermatologist, William Anderson, is also credited with describing the disease at around the same time and therefore it is sometimes referred to as Anderson-Fabry disease.

Fabry disease affects less than 1 in 100,000 people. The disease is progressive in nature and symptoms will get worse over time. Depending on the severity of symptoms, the condition may be diagnosed in childhood or adolescence or, if less severe, in adult life. Males are more often and more severely affected than females. In females, symptoms usually first appear about six years later than they do in males and so females are usually diagnosed at a later age than males. If Fabry disease is not treated, life expectancy is generally reduced by 20 years in men and 15 years in women.

As a genetic disease it means that the disease can be passed on through the generations from parents to children. The disease is not contagious, meaning that it can not be passed from one person to another by touch or close contact.
Fabry disease is caused by a faulty gene which results in the absence or deficiency of an enzyme called alpha-galactosidase-A. This enzyme plays a crucial role in the break down of fats in cells. Without this enzyme a waste product made up of a mixture of sugars and fats, called globotriaosylceramide or GL-3, accumulates, particularly in the walls of blood vessels supplying the heart, kidney, eye and nerves, affecting the correct functioning of these organs. Babies and young children may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.

The faulty gene that causes Fabry disease is passed down from a parent to a child on the female sex chromosome, called the X-chromosome. Two chromosomes determine the sex of an individual. These are the X and Y chromosomes. Females have two X-chromosomes (XX) and males have an X and Y chromosome (XY). A child will inherit a chromosome from each parent.

If the mother carries the faulty Fabry gene on one of her X-chromosomes and the father does not suffer from the condition, there is a 50:50 chance of a male child having Fabry disease, as he will inherit one of his mother's X-chromosomes. If it is the X-chromosome with the faulty gene, he will have Fabry disease. If it is the X-chromosome with the normal gene, he will not have Fabry disease. If the child is female there is a 50:50 chance that she will carry the defective gene, as she will inherit one X-chromosome from her mother. If it is the X-chromosome with the defective gene, she will be a carrier for Fabry disease, able to pass the disorder on to the next generation if she has children. If it is the normal X-chromosome, she will not have Fabry disease nor will she be a carrier.

From the description in the preceding paragraph, it is clear why it was once thought that because females have two X-chromosomes, they could only be carriers of Fabry disease; the reason being that the X-chromosome carrying the normal gene produced sufficient alpha-galactosidase-A enzyme to compensate for the faulty gene on the other X-chromosome. However, it is now recognised that because of a phenomenon known as X-inactivation, females can and do develop Fabry disease.

X-inactivation is a normal process through which one of the two X-chromosomes in each cell of the female body is turned off or inactivated. This process occurs randomly in cells during a female baby's development in the uterus. Consequently, in some cells, the X-chromosome carrying the faulty gene will be turned off, while in other cells, the X-chromosome carrying the normal gene will be turned off. If the X-chromosome carrying the normal gene is turned off, there will be insufficient alpha-galactosidase-A enzyme produced and the female will develop symptoms of Fabry disease. Furthermore, the severity of symptoms varies depending on the amount of enzyme produced and symptoms tend to develop only in those organs where no enzyme is produced, for example just in the kidney or in the heart.

X-inactivation not only explains why females get Fabry disease but also explains why females have less severe symptoms than males who have little or no alpha-galactosidase-A enzyme.
Symptoms depend on the level of deficiency of the enzyme alpha-galactosidase-A. If the deficiency is severe, symptoms may develop in childhood or adolescence. If the deficiency is less severe, symptoms may not appear until adult life.

Some of the first symptoms to appear in children are a group of dark, red spots, known as angiokeratoma which usually appear around the bathing trunk area, but also around the elbows and knees. There is inability to sweat normally, inability to control body temperature and severe pain in the hands and feet. Some boys may have symptoms that affect the eye, noticeably a clouding of the cornea. Other than this, the physical symptoms of Fabry disease are highly variable.

As the disease develops, sufferers experience a range of medical symptoms including constant background pain particularly in the hands and feet, specific episodes of severe pain (known as Fabry's crises), inability to sweat or control body temperature, bowel problems such as alternating constipation, diarrhoea and nausea/vomiting, kidney disease, heart disease and increased likelihood of multiple, premature stroke. Intelligence is not usually affected by the disease.
There is no cure for Fabry disease but the condition can be managed by enzyme replacement therapy. Two enzyme treatments are currently available in the UK, agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal), each having a slightly different profile. Either enzyme, given by intravenous infusion every two weeks will slow the progression of the disease and will improve the condition of patients, enabling them to lead more normal lives. Particular benefits of this treatment include reducing pain, stabilising and improving renal and cardiac function as well as acting as a preventative treatment.

Pain and complications of Fabry disease arising from damage to the heart, kidney and eye are managed with the appropriate medicines.
When to see your doctor
If you think that you or a member of your family may have Fabry disease, particularly if there is a history of the disease or its symptoms in your family, go to see your doctor. After taking a full medical history and conducting an examination your doctor may decide to refer you to a specialist centre for genetic tests to confirm the diagnosis.

Once a diagnosis of Fabry disease has been made, care and long term monitoring will be provided by a specialist team of doctors, nurses, therapists and counsellors.
Living with Fabry disease
While your specialist team will help with treatment, there are a number of things that you can do that will also help relieve symptoms.

Find out as much as you feel that you need to understand your condition. Talk to members of your specialist team, search the internet and join a support group to get the information you want. Do not be afraid to ask questions if there is anything that you do not understand.

Similarly, if thinking of starting a family, talk to members of your specialist team about genetic counselling and prenatal testing.

Maintain a healthy lifestyle. Take regular but gentle exercise, have a balanced diet rich in vegetables and fruit and low in salt, do not smoke and drink alcohol only in moderation. All of these measures will help reduce the risk of kidney and heart problems and stroke.

Be aware of your environment. Extremes of temperature, hot or cold, can increase pain so dress accordingly and avoid exposure to strong sunlight.

Learn to relax to avoid being stressed. Rest frequently when tired.

Share the fact that you have Fabry disease with other family members, not just immediate family but also uncles, aunts and cousins. This will help them understand your condition and, since Fabry disease is a genetic disorder, it will make them aware that there is a risk that they may have the disease too, and so they should consider genetic testing.

Talk to your employer or your child's teachers to let them know about Fabry disease and how this may affect time at work or school.
Further information
Further information on Fabry disease may be obtained from the Society for Mucopolysaccharide Diseases.

The Society for Mucopolysaccharide Diseases (the MPS Society) is a voluntary support group founded in 1982, which represents from throughout the UK over 1200 children and adults suffering from Mucopolysaccharide and Related Lysosomal Storage Diseases including Fabry Disease, their families, carers and professionals. The Society has the following aims:

  • To act as a support network for those affected by MPS & Related Diseases
  • To bring about more public awareness of MPS & Related Diseases
  • To promote and support research into MPS & Related Diseases
Tel: 0845 389 9901