BACKGROUND: Fabry disease is a rare X-linked disease arising from deficiency of alpha-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood pressure (BP). The prevalence of uncontrolled hypertension, as well as the effect of enzyme replacement therapy on BP, in patients with Fabry disease is unknown. METHODS: We examined uncontrolled hypertension (systolic BP [SBP] >or=130 mm Hg or diastolic BP [DBP] >or=80 mm Hg) among 391 patients with Fabry disease who were participating in the Fabry Outcome Survey (FOS). RESULTS: Uncontrolled hypertension was present in 57% of men and 47% of women. In patients with chronic kidney disease (CKD) stage 1 (n100), median SBP was 120 mm Hg and median DBP was 74 mm Hg. In patients with CKD stage 2 (n172), median SBP was 125 mm Hg and median DBP was 75 mm Hg. In patients with CKD stage 3 (n63), median SBP was 130 mm Hg and median DBP was 75 mm Hg. There was a significant decrease in both SBP and DBP during a 2-year course of enzyme replacement therapy. CONCLUSIONS: This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry disease.
BACKGROUND:Fabry disease is a rare X-linked disease arising from deficiency of alpha-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood pressure (BP). The prevalence of uncontrolled hypertension, as well as the effect of enzyme replacement therapy on BP, in patients with Fabry disease is unknown. METHODS: We examined uncontrolled hypertension (systolic BP [SBP] >or=130 mm Hg or diastolic BP [DBP] >or=80 mm Hg) among 391 patients with Fabry disease who were participating in the Fabry Outcome Survey (FOS). RESULTS: Uncontrolled hypertension was present in 57% of men and 47% of women. In patients with chronic kidney disease (CKD) stage 1 (n100), median SBP was 120 mm Hg and median DBP was 74 mm Hg. In patients with CKD stage 2 (n172), median SBP was 125 mm Hg and median DBP was 75 mm Hg. In patients with CKD stage 3 (n63), median SBP was 130 mm Hg and median DBP was 75 mm Hg. There was a significant decrease in both SBP and DBP during a 2-year course of enzyme replacement therapy. CONCLUSIONS: This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry disease.
Authors: Michael Beck; Uma Ramaswami; Elizabeth Hernberg-Ståhl; Derralynn A Hughes; Christoph Kampmann; Atul B Mehta; Kathleen Nicholls; Dau-Ming Niu; Guillem Pintos-Morell; Ricardo Reisin; Michael L West; Jörn Schenk; Christina Anagnostopoulou; Jaco Botha; Roberto Giugliani Journal: Orphanet J Rare Dis Date: 2022-06-20 Impact factor: 4.303
Authors: T Kovarnik; G S Mintz; D Karetova; J Horak; J Bultas; R Skulec; H Skalicka; M Aschermann; M Elleder; A Linhart Journal: J Inherit Metab Dis Date: 2008-11-08 Impact factor: 4.982
Authors: J W Koskenvuo; J J Hartiala; P Nuutila; R Kalliokoski; J S Viikari; E Engblom; M Penttinen; J Knuuti; I Mononen; I M Kantola Journal: J Inherit Metab Dis Date: 2008-05-23 Impact factor: 4.750