Methods of diagnosis

Diagnosing Fabry disease can be difficult for several reasons:

  • As the disease is so rare, many doctors have not seen Fabry patients before and may not consider Fabry disease as a possible diagnosis.
  • Many general signs and symptoms of Fabry disease (such as fever and feeling tired) can easily be attributed to more common conditions.
  • Fabry disease can affect many parts of the body, which are often treated separately by different health care professionals, before someone recognizes all symptoms are actually linked to a single cause which is Fabry disease.

In case a doctor suspects Fabry disease, asking about the family history of the suspected patient may further point towards Fabry disease. Due to the nature of the disease, usually multiple people in a family are affected and may have had serious health issues such as kidney problems, heart problems and/or strokes.

It sometimes takes years or even decades for people with Fabry disease to get a diagnosis. Diagnosing a person with Fabry disease can be a long process, involving several different doctors and a wide variety of tests. The usual process for doctors is to rule out more common conditions before thinking about rare disorders such as Fabry disease.

It is important to diagnose people with Fabry disease as early as possible because Fabry disease progresses over time leading to irreversible organ damage. Once a person is diagnosed with Fabry disease, a doctor can then plan management and treatment of the disease. This may include a range of treatments to help manage different symptoms of the disease.

Pompes sjukdom

Links to websites with more information on how to live with Fabry disease.

Expression of Hope

Expression of Hope is a global disease awareness program featuring works of art created by individuals touched by lysosomal storage disorders.