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Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease

Piotr Podolec12, Przemysław Mitkowski3, Agnieszka Słowik4, Agnieszka Gala-Błądzińska5, Urszula Gancarczyk2, Robert Gil6, Tomasz Grodzicki7, Krzysztof Kaczmarek8, Beata Kieć-Wilk9, Mariusz Kłopotowski10, Magdalena Kostkiewicz12, Magdalena Krajewska1112, Mariusz Kusztal12, Beata Lipska-Ziętkiewicz13, Katarzyna Mizia-Stec14, Michał Nowicki15, Katarzyna Muras-Szwedziak16, Krzysztof Pawlaczyk17, Łukasz Przysło18, Konrad Rejdak19, Dariusz Rokicki20, Jacek Szepietowski21, Sylwia Szczepara2, Robert Śmigiel22, Zbigniew Żuber23, Katarzyna Życińska24, Stanisław Maćkowiak25, Małgorzata Barnaś2, Monika Komar12

Abstract

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion. In the absence of a positive family history, an early diagnosis can often be missed. In addition, the age of clinical manifestation can range from infancy to adulthood — a distinction is made between severe “classic” variants of the disorders, presenting in childhood, and forms with late onset. Some of the conditions in this group may not show typical signs of tissue storage, such as liver and spleen enlargement, especially in subtypes associated with neurodegenerative changes.

The aim of the Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease is to summarise the current knowledge on FD, present advances in diagnosis and therapy and disseminate known diagnostic and therapeutic algorithms for this group of patients.

 

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