Fabry disease screening may improve early diagnosis and treatment

Currently, screening for Fabry disease relies on measuring levels of alpha-Gal A activity in a specific type of white blood cell, but recent findings suggest an easier method for screening and diagnosis.

Fabry disease is a rare genetic disorder caused by a defect in the GLA gene. The defect causes a deficiency in a specific enzyme needed to break down fats; the resulting fat accumulation leads to cell damage, with consequences such as kidney failure, heart attack and stroke.

Fabry disease: dried blood spot testing

According to data published by Japanese researchers in the Journal of Human Genetics, the analysis of dried blood spots (DBS) may help diagnose Fabry disease and initiate early treatment in high-risk patients with cardiac, renal, or neurological symptoms.

Due to its rarity, Fabry disease is both underdiagnosed and misdiagnosed by clinicians; however, the DBS test could potentially be an effective and simple method to not only identify Fabry disease in high-risk patients but also prevent serious complications.

GlobalData epidemiologists present the diagnosed prevalent cases of Fabry disease in the seven major pharmaceutical markets (7MM: the US, France, Germany, Italy, Spain, the UK and Japan), shown alongside Fabry disease cases that experienced a cardiovascular complication such as a mini-stroke (transient ischemic attack) or stroke (as shown in Figure 1).

Taking into consideration all high-risk populations and not only cardiovascular, the proportion of high-risk cases within Fabry disease will likely increase with the implementation of this new screening method, as well as result in an increase in overall diagnosed prevalent cases of Fabry disease.

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