Enzyme replacement therapy in Fabry disease in Poland – position statement

Abstract

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

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

“…Intractable & Rare Diseases Research Advance Publication P5 years shorter, and that of women is 6 to 10 years shorter compared to the average life expectancy in the population (20). In our study, we were not able to confirm that NfL concentration is a clinically useful biomarker for an assessment of the degree of nervous system involvement in women with FD.…”

The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options

“…Fabry disease (FD) is a rare, inherited, lysosomal storage disease caused by mutations in the GLA gene, which manifests as a lack, or significant deficiency, of the lysosomal enzyme α-galactosidase A (α-GAL A), leading to the accumulation of globotriaosylceramide (GL-3) within lysosomes in different cell types, including endothelial cells, podocytes, and cardiomyocytes [92]. Although the most often affected organs in FD are the heart and kidneys, cerebrovascular complications are also seen [93].…”

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

“…There is no centralized process for preparing therapeutic guidelines for rare and ultra-rare diseases including FD in Poland. The first nationwide recommendations for FD treatment were published by our group in the Polish Archives of Internal Medicine in early 2020 [5]. Our recommendations were based on medical literature analysis and recommendations from medical expert groups in other countries; therefore, the indications and contraindications for the therapy were not fully compatible with the drug reimbursement program (available at https: //www.gov.pl/web/zdrowie/choroby-nieonkologiczne) (accessed on 23 June 2021).…”