PS-BPC11-10: BLOOD PRESSURE IN PATIENTS WITH FABRY DISEASE

Abstract

Background: Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity, one of the lysosomal hydrolases. A defect in α-gal A activity leads to the systemic accumulation of glycosphingolipids resulting in multiple organ involvement such as acroparesthesia, hypohidrosis, angiokeratoma, and corneal opacities. In many patients with Fabry disease, cardiac and/or cerebrovascular disease is the primary cause of death. Control of hypertension, which is a risk factor for cardiac and cerebrovascular disease, is therefore important. The prevalence of uncontrolled hypertension in patients with Fabry disease is unknown. Method: We st udied uncontrolled hypertension (systolic blood pressure(SBP)< 130 mmHg or diastolic blood pressure(DBP) < 80 mmHg) at the first visit of 31 patients who were diagnosed with Fabry disease in our department from April 2015 to December 2021. Of these, two children and four whose blood pressure had not been measured were excluded. Results: We examined 7 males(28%) and 18 females(72%). Uncontrolled hypertension was present in 76% of the patients with Fabry disease (males; 57,1%, females; 83.3%). Median SBP was 125 mmHg and median DBP was 83mmHg. Conclusion: In our study, we found a very high prevalence of uncontrolled hypertension in patients with Fabry disease, especially in women. Given that the leading causes of death in Fabry disease are cardiac and cerebrovascular disease, our data suggest the importance of blood pressure control in patients with Fabry disease. Our study was limited by the single-center data and the limited number of cases.