The diagnosis
Fabry disease is not always easy to diagnose, and patients often have a long history of suffering before symptoms can be attributed to Fabry disease. It often takes several years for a doctor to make the correct diagnosis. If Fabry disease is suspected, the doctor makes the diagnosis by means of a series of laboratory tests for which a blood sample must be taken.
Once the diagnosis has been confirmed, the doctor usually refers the patient to certain clinics specializing in the treatment of lysosomal storage disorders. There are a number of molecular genetic tests that can confirm the diagnosis of Fabry’s disease. First of all, a simple enzyme test can clarify whether there is a defect in α galactosidase.
In men, a positive test result (i.e. reduced activity of α galactosidase) is usually sufficient to diagnose the disease. Diseased women can still have normal activity of the α galactosidase enzyme in their blood, so in such cases an additional gene analysis is performed. The gene analysis can show whether the woman has a disease-causing mutation in the α galactosidase gene.
The treatment
Early diagnosis is very important for the treatment of Fabry’s disease, because the earlier the symptoms are treated, the slower the disease progresses. There are certain centers that are specialized in the treatment of symptoms of Fabry’s disease and which patients should definitely contact. Since Fabry disease is a multi-organ disease, treatment is provided by a team of cardiologists, nephrologists, neurologists and other specialists.
In addition to alleviating the symptoms, the therapy approach has for some years now been aimed primarily at replacing the missing enzyme with an artificially produced α galactosidase. This enzyme replacement therapy results in the metabolites being broken down and not being deposited in the organs, thus improving the patients’ symptoms. If treatment is started early, damage to the organ systems can be prevented and patients can lead an almost normal life.
How does Fabry’s disease affect life expectancy?
Fabry’s disease is a serious disease that causes severe damage to the kidneys, heart and brain at an early age. Due to the reduced enzyme activity, fats are deposited in the blood vessels and organs, causing the organs to become increasingly damaged and eventually lose their function completely. If the disease remains undetected or no treatment is given, patients with Fabry’s disease often die prematurely due to heart disease, chronic kidney failure or a stroke.
If left untreated, patients have a greatly reduced life expectancy of only about 40 to 50 years. If the disease is diagnosed early and appropriate treatment in the form of enzyme replacement therapy is started immediately, patients have a near-normal life expectancy that is not far below the average age.
