Testing & Diagnosis

Testing & Diagnosis

Recognising that someone has Fabry disease can sometimes be hard because its symptoms are often confused for other common diseases. An affected person may at first be misdiagnosed and in fact may have symptoms for many years without knowing they have Fabry disease.

Males can be diagnosed through a blood test that measures the amount of alpha-GAL in the blood. A female who has Fabry disease may have normal levels of alpha-GAL in the blood, and needs genetic testing to determine whether or not they have the disorder. Genetic testing looks at a person’s DNA to see if they carry the Fabry mutation.

Prenatal diagnosis is possible by measuring the a-galactosidase 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.

Family Testing

If you or a family member has been diagnosed, others in your immediate and extended family may also have Fabry disease. Fabry Disease is a genetic inherited condition and can affect more than one person in the family.

It is important to speak with your family members about your diagnosis and encourage them to be tested. The tests which measure alpha-galactosidase enzyme activity, lyso-ceramide trihexoside and for known familial mutation testing can be ordered using a pathology referral form by your Doctor. It is also very helpful and advisable to consider Genetic Counselling when family planning or first diagnosed to understand the inheritance pattern of Fabry Disease. There are Genetic Counsellors throughout the country and the Fabry Clinics can refer you to a Genetic Counsellor to support you and your family with your new diagnosis.

Fabry Australia has an ‘Understanding Fabry Disease’ Fact Sheet booklet to help talk with your family about Fabry Disease

Testing Costs

Any clinician can order tests to diagnose Fabry Disease. If the test is completed within the Fabry Clinic setting there is no cost to the patient. If the test is ordered privately there are costs associated with the test. Fabry Clinics have access to two Dry Blood Spot testing kits which have been provided by two pharmaceutical companies. One test is completed within Australia and the other is sent to Germany. Both are free to the Fabry Clinician and to the patient. To understand more about these tests please direct your questions to your State Fabry Clinic. If you have a clinician outside of the clinic looking to conduct a test, please refer them to the Fabry Clinic for further information.

Misdiagnosis of Fabry disease

Misdiagnosis is common in Fabry disease due to its rarity. Fabry disease has been mistaken for;

Meniere’s disease
Crohn’s disease
Multiple sclerosis
Rheumatic fever
Raynaud syndrome
Irritable bowel syndrome

A Positive Diagnosis often brings many questions

A diagnosis often comes with mixed emotions ranging from a huge sense of relief from the worry, anxiety and frustration associated with searching for a diagnosis for yourself, your child or family member to feelings of being overwhelmed not knowing much about Fabry disease and the impact on other members within your immediate and extended family. You are not alone and Fabry Australia provides mutual support sharing experiences and information on living with Fabry Disease.

You may have many questions when first diagnosed with Fabry disease ranging from; who discovered Fabry disease?; What are the symptoms?; Are there treatments?; How is the disease managed?; What impact will it have on my life? What research is being done in Australia?
The Fabry Australia website is a good place to start reading, exploring and receiving answers to some of your questions. You can also write down your questions and phone Fabry Australia or take them to your next
Fabry clinic appointment. The Fabry clinicians and staff are only too happy to help and answer any questions
you may have.

Having a diagnosis is very useful for Doctors in start 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

Fabry Australia ‘Understanding Fabry Disease’ Factsheet

Understanding Fabry Disease booklet was produced by Fabry Australia and reviewed by Fabry Australia’s Medical Advisory Committee. It is an excellent resource for explaining Fabry disease to a new diagnosed patient and their family and or friends. It is a helpful resource to show health professionals unfamiliar with Fabry Disease.