Diagnosis of Fabry DiseaseNext Topic
An early diagnosis of Fabry disease is important for initiating symptom management and reducing the risk of future problems, as well as for early identification of other affected family members.
A combination of the signs and symptoms discussed previously may lead a physician to consider a diagnosis of Fabry disease. Patients are often referred to a specialist center to confirm the diagnosis of Fabry disease through laboratory testing and to initiate any treatment. Additional information on testing and diagnosis can be found in the Testing and Diagnosis fact sheet.
Laboratory testing in males measures the level of a-Gal A enzyme in a blood sample. If the level of the enzyme is very low, a diagnosis of Fabry disease can be made. This blood test can also be used to confirm the diagnosis of Fabry disease in females, although it will miss some affected women. Therefore, a laboratory genetic test in which DNA is analyzed 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 fetus. This test may be offered to expectant mothers who have Fabry disease. Diagnosis through DNA testing to identify specific gene mutations is also an option. 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.
After Diagnosis
Fabry disease is variable in its presentation and course as the symptoms affect people in different ways. Therefore, treatment must be tailored individually. Rare conditions like Fabry disease may require healthcare providers to request further information from a specialist center experienced in dealing with Fabry disease. At these centers the patient and his/her family are assessed by a range of medical specialists and advised on a specific treatment program. An ongoing program of support with doctors, nursing staff and counselors can also be arranged.
A patient with Fabry disease may also be asked to participate in what is called either an outcomes survey or a registry. Registries and outcomes surveys are important for rare diseases because they collect data from people with the disease around the world and monitor their progress. The ultimate goal is to help healthcare professionals better understand the disease and improve patient care by working collaboratively.
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