Patient Toolkit

Fabry disease is a rare genetic condition. About 1 in 22,000-40,000 males are affected with the classic type of Fabry disease. About 1 in 1,000–3,000 males and 1 in 6,000–40,000 females are affected with the late-onset/atypical type of Fabry disease.¹
In people with Fabry disease, an enzyme (protein; alpha-galactosidase A) that removes a type of fat is missing or does not work well.² This leads to a build-up of these fats in blood vessels and organs which can lead to a range of manifestations.^3,4

Some of the most common symptoms of Fabry disease are:^3,5

• Severe pain episodes
• Burning and tingling sensations in the hands and feet
• Small, red or dark-blue spots on the skin
• Sweating abnormalities. Sweating less than is usual or not at all
• Fatigue (extreme tiredness)
• Hazy eyes (corneal opacity)
• Hearing problems
• Gastrointestinal symptoms
• Heart problems
• Kidney problems
• Nervous system problems

The symptoms and the severity can vary greatly between people with Fabry disease. A person with Fabry disease may not have all of these symptoms, but may only have a few.⁶

You may or you may not have the same symptoms as a family member with Fabry disease. The symptoms and the severity of the symptoms can vary greatly between people with Fabry disease.⁶

Yes, Fabry disease may affect men and women differently. Although it can differ per person, generally, men are more severely affected by Fabry disease.⁵
For a long time it was thought that women were only carriers of the disease and that they did not have any symptoms. However, we now know that this is not the case.⁷ Many women with Fabry disease do have symptoms, however, symptoms may vary more and certain symptoms may be milder or absent in women.^7,8
Men may have more severe symptoms and have Fabry disease that gets worse more quickly over time.⁵

Fabry disease is a genetic condition and therefore a person is born with Fabry disease. Depending on the type of Fabry disease, symptoms may appear in childhood/adolescence (classic type) or at an older age in adulthood (late-onset/atypical type).⁵

No, Fabry disease is not contagious, it is an inherited disease. You can only get Fabry disease if one or both of your parents has it.^9,10

Fabry disease is a inherited disease. This means it is passed on through genes from your parents. Mothers with Fabry disease have a 50% chance of passing the Fabry gene on to their children. Fathers with Fabry disease pass on the Fabry gene to none of their sons and all of their daughters.^9,10

How Fabry is passed on from mothers and fathers¹⁰

If you and/or your doctor suspect you may have Fabry disease, your doctor will do a blood test. In boys/men, the doctor will check the level of alpha-galactosidase A (alpha-Gal A).⁵ Alpha-Gal A is the enzyme that is missing or does not work well in people with Fabry disease.³ In girls/women, the doctor will also check for certain genes. This is because girls and women with Fabry disease may have normal alpha-Gal A activity.⁵

How long a person with Fabry disease lives will vary and depend on certain factors. For example, which genes mutation you have, the age at which Fabry disease symptoms started, when you were diagnosed and started treatment.^5,11 These factors can affect if, and how fast, your Fabry disease will get worse.⁵
On average, people with Fabry disease do not live as long as people without Fabry disease. Data from 2848 patients in the Fabry Registry (including both treated and untreated patients) showed that men with Fabry disease on average lived to about 58 years compared to 75 years for men in the general population. Women with Fabry disease on average lived to about 75 years compared to 80 years for women in the general population.¹²

However, life expectancy of people with Fabry Disease is expected to improve in the future. New studies will help us understand Fabry disease better, and may lead to diagnosing and treating people with Fabry disease earlier. Earlier diagnosis and initiation of treatment would be expected to extend life expectancy.¹²

Yes, people with Fabry disease can have children. A study performed in 2005 has shown that fertility rates in both men and women with Fabry disease are usually normal.¹³ However, women with Fabry diseaese do have a higher risk of complications during pregnancy.¹⁴
If you or your partner have been diagnosed with Fabry disease and are thinking about having children, talk to your doctor. Your doctor will be able to refer you to a genetic counselor, which can help you understand the likelihood that your children will inherit Fabry disease.^9,15

Currently, there are two types of treatments that have been approved for Fabry disease:¹⁶

• Enzyme replacement therapy
• Chaperone therapy

Your doctor will discuss which treatment option will be most suitable for you.

Enzyme replacement therapy works by providing new healthy enzymes to a person that is missing that enzyme or whose enzymes do not work well.¹⁸ Enzyme replacement therapy for Fabry disease contains the enzyme alpha-galactosidase A.⁵
In people with Fabry disease, this is the enzyme that or does not work well.³ Enzyme replacement therapy is given as an intravenous (into a vein) injection.⁵

Chaperone therapy works by stabilizing and correcting faults (misfolds) in the enzyme alpha-galactosidase A.⁵ This protein is mutated in people with Fabry disease, so it does not work well.³ The stabilized and corrected alpha-galactosidase A can then break down the fat (globotriaosylceramide or Gb3).⁵
Chaperone therapy only works in patients who have specific types of mutations in the enzymes and it is taken as a pill by mouth.⁵