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Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common. It results from deficient alpha-galactosidase activity, leading to the accumulation of globotriaosylceramide (Gb3), causing inflammation, cellular damage, and mitochondrial dysfunction. The aim of this publication is to discuss various aspects of Fabry disease based on the latest literature. Review Methods: The PubMed database was searched for scientific articles where the terms "Fabry disease" or "FD" appear in the title, abstract, or keywords. The focus was on articles published between 2017 and 2024, although in some cases, older sources were consulted when more recent data was lacking. Brief Description of the State of Knowledge: The Fabry disease occurs with a frequency between 1:40,000 and 1:117,000 live male births. Symptoms include proteinuria, kidney failure, hypertrophic cardiomyopathy, valve defects, peripheral neuropathy, and gastrointestinal issues. The disease affects life expectancy, primarily due to cardiovascular complications. Early diagnosis is often delayed due to non-specific symptoms, and prognosis tends to be worse in males. Current treatments include enzyme replacement therapy (ERT), chaperone therapy with migalastat, and second-generation ERT. Summary: Given the rarity of Fabry disease, research is limited, and there is a need for more studies to explore novel therapeutic options that could improve patient quality of life and mitigate the disease's complications.

According to the European Union definition, a rare disease is a disease that occurs with a frequency of less than 5 per 10,000. Rare diseases pose a major diagnostic problem for physicians. Due to the often uncharacteristic symptoms and rarity of the disease, it can take a long time before a correct diagnosis and treatment is made. Fabry disease is classified as a rare disease. It is an X-linked hereditary syndrome caused by alpha-galactosidase A deficiency. This leads to accumulation of glycosphingolipids in tissues and dysfunction of many organs. The clinical picture is variable and dependent on residual alpha-galactosidase A activity. The classic form of the disease occurs most often in males due to the presence of only one X chromosome. When alpha-galactosidase A activity is partially preserved, a non-classical form develops, which is more commonly seen in the female sex. The most common clinical manifestations reported by patients are angiokeratoma, anhidrosis, diarrhoea or left ventricular hypertrophy. To diagnose Fabry disease, alpha-galactosidase A activity can be measured in whole blood - dry blood drop test (DBS), plasma or leukocytes. Fabry disease can be treated effectively, but treatment must last for life. The treatments reimbursed in Poland are agalsidase alfa and beta preparations and migalastat.

This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.