循環器ジャーナル70巻1号

2022年01月発行

特集 心筋症診療のフロントライン—概念から最新の治療まで Ⅴ章　心肥大と出会ったら

—肥大を呈する二次性心筋症①—心Fabry病

著者： 山川裕之¹²

所属機関： ¹慶應義塾大学医学部循環器内科 ²慶應義塾大学予防医療センター

ページ範囲：P.126 - P.136

Point
・肥大心の中にFabry病の心病変は，1%程度存在している．
・Fabry病の診断としては，αGAL酵素活性やGLA遺伝子診断が必要である．
・Fabry病の治療法としては，根本治療である酵素補充療法・薬理学的シャペロン療法などと，対症療法が存在している．

参考文献

1）Desnick RJ, Ioannou YA, Eng CM, et al : α-Galactosidase A deficiency : Fabry disease. In : Scriver CR, Beaudet AL, Sly WS, et al, eds : The Metabolic and Molecular Bases of Inherited Disease 8th ed. McGraw-Hill, New York, pp 3733-3774, 2001

2）Inoue T, Hattori K, Ihara K, et al : Newborn screening for Fabry disease in Japan : prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 58 : 548-552, 2013

3）Favalli V, Disabella E, Molinaro M, et al : Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics. J Am Coll Cardiol 68 : 1037-1050, 2016

4）Waldek S, Patel RP, Banikazemi M, et al : Life expectancy and cause of death in males and females with Fabry disease : Findings from the Fabry Registry. Genet Med 11 : 790-796, 2009

5）日本循環器学会/日本心不全学会合同ガイドライン　心筋症診療ガイドライン（2018年改訂版），2018

6）Lin HY, Chong KW, Hsu JH, et al : High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2 : 450-456, 2009

7）Hwu WL, Chien YH, Lee NC, et al : Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936＋919G＞A（IVS4＋919G＞A）Hum Mutat 30 : 1397-1405, 2009

8）Desnick RJ, Banikazemi M, Wasserstein M, et al : Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol 57 : 1-8, 2002

9）Nakao S, Takenaka T, Maeda M, et al : An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 : 288-293, 1995

10）Hagège A, Réant P, Habib G, et al : Fabry disease in cardiology practice : Literature review and expert point of view. Arch Cardiovasc Dis 112 : 278-287, 2019

11）Kobayashi M, Ohashi T, Sakuma M, et al : Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. J Inherit Metab Dis 7 : 483-487, 2008

12）Ferrans VJ, Hibbs RG, Burda CD : The heart in Fabry's disease : A histochemical and electron microscopic study. Am J Cardiol 24 : 95-110, 1969

13）Kitani Y, Nakagawa N, Sakamoto N, et al : Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease. Circ J 83 : 481-484, 2019

14）日本先天代謝異常学会（編）：Fabry病診療ガイドライン2020．診断と治療社，2021

15）山川裕之：【見逃していませんかその症状，疾患！　—日常診療で見逃さないためのTips—】心筋症/心不全　胸痛を主訴に救急外来を受診した60歳代の男性が，心肥大を認めた症例．Heart View 24 : 99-110, 2020

16）Figliozzi S, Camporeale A, Boveri S, et al : ECG-based score estimates the probability to detect Fabry Disease cardiac involvement. Int J Cardiol 339 : 110-117, 2021

17）Yeung FD, Sirrs S, Tsang M YC, et al : Echocardiographic Assessment of Patients with Fabry Disease. J Am Soc Echocardiogr 31 : 639-649, 2018

18）Zada M, Lo Q, Boyd CA, et al : Basal Segmental Longitudinal Strain : A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease. J Am Soc Echocardiogr 34 : 405-413, 2021

19）Niemann M, Herrmann S, Hu K, et al : Differences in Fabry cardiomyopathy between female and male patients : consequences for diagnostic assessment. JACC Cardiovasc Imaging 4 : 592-601, 2011

20）Sado MD, White KS, Piechnik KS, et al : Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 6 : 392-398, 2013

21）Tadic M, Cuspidi C, Plein S, et al : Comprehensive assessment of hypertensive heart disease : cardiac magnetic resonance in focus. Heart Fail Rev 26 : 1383-1390, 2021

22）Mathur S, Dreisbach JG, Karur RK, et al : Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease : relationship to T1 mapping, late gadolinium enhancement and hypertrophy. J Cardiovasc Magn Reson 21 : 45, 2019

23）Kampmann C, Perrin A, Beck M : Effectiveness of agalsidase alfa enzyme replacement in Fabry disease : cardiac outcomes after 10 years' treatment. Orphanet J Rare Dis 10 : 125, 2015

24）Germain DP, Charrow J, Desnick RJ, et al : Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet 52 : 353-358, 2015

25）Hughes DA, Nicholls K, Shankar SP, et al : Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase Ⅲ ATTRACT study. J Med Genet 54 : 288-296, 2017

26）Germain DP, Hughes DA, Nicholls K, et al : Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N Engl J Med 375 : 545-555, 2016

27）Shayman JA : Targeting glucosylceramide synthesis in the treatment of rare and common renal disease. Semin Nephrol 38 : 183-192, 2018