Imbriaco M, Pisani A, Spinelli L, Cuocolo A, Messalli G, Capuano E, Marmo M, Liuzzi R, Visciano B, Cianciaruso B, Salvatore M
Department of Biomorphological and Functional Sciences, University Federico II, Naples, Italy.
Heart. 2009 Jul;95(13):1103-7. doi: 10.1136/hrt.2008.162800. Epub 2009 Apr 15.
Anderson-Fabry disease is a multisystem X linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function. Evidence showing that enzyme-replacement therapy (ERT) can be effective in reducing LV hypertrophy and improving myocardial function in the long term is limited.
This study aimed to assess the long-term effects of ERT with recombinant alpha-galactosidase A (agalsidase beta, Fabrazyme) on LV function and myocardial signal intensity in 11 patients with Anderson-Fabry disease.
Eleven patients (eight males, three females) with varying stages of genetically confirmed Anderson-Fabry disease were examined by means of physical examination and magnetic resonance imaging before ERT with agalsidase beta at 1 mg/kg every other week (study 1) and after a mean treatment duration of 45 months (study 2).
At 45 months of treatment, LV mass and LV wall thickness had significantly reduced: 188 (SD 60) g versus 153 (47) g, and 16 (4) mm versus 14 (4) mm, respectively. Furthermore, a significant reduction in myocardial T2 relaxation times was noted in all myocardial regions, that is, interventricular septum 80 (5) ms versus 66 (8) ms, apex 79 (10) ms versus 64 (10) ms, and lateral wall 80 (8) ms versus 65 (16) ms. Changes in LV ejection fraction were not significant. Amelioration of clinical symptoms was observed in all patients.
Long-term therapy with agalsidase beta at 1 mg/kg every 2 weeks was effective in significantly reducing LV hypertrophy, improving overall cardiac performance and ameliorating clinical symptoms in patients with Anderson-Fabry disease.
安德森-法布里病是一种脂质代谢的多系统X连锁疾病，常伴有心脏症状，包括左心室（LV）肥厚，逐渐损害心脏功能。关于酶替代疗法（ERT）长期有效减轻LV肥厚和改善心肌功能的证据有限。
本研究旨在评估重组α-半乳糖苷酶A（阿加糖酶β，法布赞）ERT对11例安德森-法布里病患者LV功能和心肌信号强度的长期影响。
11例经基因确诊的不同阶段安德森-法布里病患者（8例男性，3例女性），在接受每两周1 mg/kg阿加糖酶β的ERT治疗前（研究1）和平均治疗45个月后（研究2），通过体格检查和磁共振成像进行检查。
治疗45个月时，LV质量和LV壁厚度显著降低：分别为188（标准差60）g对153（47）g，以及16（4）mm对14（4）mm。此外，所有心肌区域的心肌T2弛豫时间均显著缩短，即室间隔80（5）ms对66（8）ms，心尖79（10）ms对64（10）ms，侧壁80（8）ms对65（16）ms。LV射血分数变化不显著。所有患者的临床症状均有改善。
每2周1 mg/kg阿加糖酶β的长期治疗可有效显著减轻安德森-法布里病患者的LV肥厚，改善整体心脏功能并缓解临床症状。
