Fabry disease:report of one case and review of literature
ZHOU Hao-tan
CHEN Dong
WANG Jia-qi
ZHENG Meng-han
DONG Fang
LV Qiang
DONG Jian-zeng
MEI Shao-shuai
LIAN Guo-liang
Abstract：Objective To investigate the clinicopathological features,differential diagnosis,treatment and prognosis of Fabry disease.Methods The clinical and imaging data of one case of Fabry disease were analyzed and the clinicopathological features were observed.Results The patient,a 68-year-old male was admitted to the hospital for chest tightness,shortness of breath,fatigue,dyspnea when walking fast,and aggravation when standing up.The endocardium thickening was not observed under microscope.Microscopic examination of the endocardial myocardial biopsy specimen showed disordered array of cardiac muscle cells,enlargement of cardiomyocytes,large nuclear malformations,vacuolar degeneration,and myocardial interstitial fibrosis.Masson staining showed positive expression.Congo red staining,elastic staining and PTAH staining were negative.Electron microscope examination found osmiophilic myeloid bodies.Conclusion Fabry disease is a rare lysosomal storage disease with X chromosome recessive heredity.It needs to be distinguished from hypertrophic obstructive cardiomyopathy,cardiac amyloidosis,Danon disease,mitochondrial disease and other hypertrophic cardiomyopathy.The diagnosis of Fabry disease needs to be combined with clinical manifestations,histopathological examination,enzyme activity,biomarker and gene detection.
Keywords：Fabry diseaseClinicopathological featuresElectron microscopeGene sequencingDifferential diagnosis
Publication Date：2023-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 732-734,787 )