Enzyme replacement therapy in Fabry disease in Poland – position statement

REPORT ERT in Fabry disease in Poland 91 associated with thin nerve fiber involvement occur, such as impaired perspiration (hypohidrosis, anhidrosis), abdominal pain, and diarrhea.Characteristic symptoms of the classic form also include angiokeratoma-type cutaneous lesions and corneal opacities (cornea verticillata). 1 Even in childhood, clinically silent proteinuric chronic kidney disease (CKD) may occur with microalbuminuria or glomerulosclerosis.Multiorgan symptoms of the classic form of FD usually appear in young adults and may include CKD, left ventricular hypertrophy, myocardial fibrosis, arrhythmias and conduction abnormalities, transient ischemic attack, and stroke.People with late-onset FD typically experience cardiac symptoms, stroke, or CKD in the fourth or fifth decade of life. 1 The classic form is an early-onset multisystem disease that usually presents with cornea verticillata and angiokeratomas.In contrast, the nonclassic form has a later onset and usually affects a single organ, most often the heart; angiokeratomas or cornea verticillata is rare.The progression of cellular and organ changes is observed in the course of FD.Metabolite accumulation begins as early as in the fetal period, leading to the involvement of numerous tissues and severe organ damage (FIguRE 1). 4 The life