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Testing & Diagnosis

An early diagnosis of Fabry disease is useful for many reasons, including starting symptom management, reducing the risk of further problems happening as well as early identification of other family members who may be affected.

Initially, a combination of the signs and symptoms may lead your doctor to think you may have Fabry disease.

Your doctor may then refer you to a specialist centre for a diagnosis of Fabry disease to be confirmed and for any treatment to be initiated.

Anyone who is thought to have Fabry disease can have the diagnosis confirmed through laboratory testing. This test, called an enzyme assay, measures the amount of alpha-GAL enzyme activity in the blood.

In males this can be done by taking a blood sample which is then tested to check the level of the a-Gal A enzyme. If the level of the enzyme is very low a diagnosis of Fabry disease can be made.

This test can also be used to confirm the diagnosis of Fabry disease in females, although a laboratory genetic test in which DNA is analysed is a more effective test for confirming the diagnosis in women especially where there is a family history of Fabry disease.

Prenatal diagnosis is possible by measuring the a-Gal A activity in tissue or fluid taken from around the foetus. This test may be offered to expectant mothers who have Fabry disease. Specialist support and advice are available for such testing.

An examination of your family history may indicate the presence of Fabry disease, particularly if a male relative suffered from kidney failure, heart disease or stroke early in life. To help identify whether there is the possibility of you or any of your relatives having Fabry disease, you can complete a medical family tree.

Family Testing

If you or a family member has been diagnosed, others in your immediate and extended family may also have Fabry disease. You do need to speak with your doctor or a genetic counsellor about Fabry testing.

The National Referral Laboratory for Lysosomal Disorders

Lysosomal Diseases Research Unit – Adelaide

The Lysosomal Diseases Research Unit (LDRU) is an acknowledged world leader in research into lysosomal storage disorders. The Unit supports a multidisciplinary team of about 40 scientists, technicians and students working towards the goal of EARLY DIAGNOSIS AND EFFECTIVE THERAPY for these disorders. It maintains an annual competitively-won research budget of approximately $1.5 million.

Lysosomal storage disorders are inherited and result in severe clinical symptoms that worsen with age. Lysosomal storage disorders result from a deficiency or absence in the functional activity of a specific enzyme (protein) in each of the body’s billions of cells. These enzymes are important in the removal of waste from each cell. Where the function of these enzymes is impaired, the waste cannot be removed effectively and begins to store within the cell. As more waste stores, it begins to interfere with the cell’s ability to carry out its normal functions. Symptoms include bone deformities and very short stature, heart and respiratory difficulties, coarse facial features, an enlarged head, tongue, liver and spleen, and, in two-thirds of patients, brain degeneration. Very severely affected patients die within the first five or 10-years of life. In Australia the estimated incidence of lysosomal storage disorders is about 1 in 5,000 births (compared with disorders such as cystic fibrosis, incidence 1 in 2,500 births), making them a considerable health burden.

Dr Michael Fietz, Head, National Referral Laboratory for Lysosomal, Peroxisomal & Related Genetic Disorders phone (08) 8161 8062

Public Officer, Lysosomal Diseases Australia phone (08) 8161 7393