随着医学的发展和社会文明程度的提高,人们对罕见病的重视程度有了极大提高。罕见病病种繁多,各疾病临床表现多样,如不加以重视,极易漏诊、误诊。迄今为止,国内对罕见病之一的法布里病(Fabry病,MIM301500)已有了一定认识。《中华医学杂志》于2013年发表了“中国法布里病(Fabry)诊治专家共识”[1]。在此,笔者对法布里病的诊断认识作一介绍。法布里病,又称“Anderson-Fabry病”(Anderson-Fabry disease,AFD),1898年分别由2位皮肤 With the development of medicine and the improvement of social civilization, people pay more attention to the rare diseases. A wide range of rare diseases, clinical manifestations of various diseases, such as not paying attention, easily missed diagnosis, misdiagnosis. So far, there has been some recognition of Fabry disease (MIM301500), one of the rare diseases in China. The Chinese Medical Journal published in 2013 the consensus of experts on the diagnosis and treatment of Fabry in China [1]. Here, I made an introduction to Fabry’s diagnosis and recognition. Fabry disease, also known as “Anderson-Fabry disease” (Anderson-Fabry disease, AFD), respectively, in 1898 from 2 skin