Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease
Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), characterized by insufficient enzyme activity 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 and transmitted mainly in an autosomal recessive fashion. Without 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 this expert opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease is to summarize the current knowledge on FD, present advances in diagnosis and therapy, and disseminate known diagnostic and therapeutic algorithms for this group of patients.
Authors
- Agnieszka Gala‐Błądzińska (ORCID: https://orcid.org/0000-0001-6617-0852)
- Monika Komar (ORCID: https://orcid.org/0000-0001-5341-2947)
- Beata Kieć‐Wilk (ORCID: https://orcid.org/0000-0002-2526-9714)
- Zbigniew Żuber (ORCID: https://orcid.org/0000-0001-9581-0601)
- Katarzyna Muras-Szwedziak (ORCID: https://orcid.org/0000-0002-3629-7833)
- Beata S. Lipska‐Ziętkiewicz (ORCID: https://orcid.org/0000-0002-4169-9685)
- Krzysztof Pawlaczyk (ORCID: https://orcid.org/0000-0001-6237-0814)
- Przemysław Mitkowski (ORCID: https://orcid.org/0000-0001-9309-674X)
- Małgorzata Barnaś (ORCID: https://orcid.org/0000-0003-3545-8401)
- Katarzyna Mizia‐Stec (ORCID: https://orcid.org/0000-0001-6907-2799)
- Magdalena Krajewska (ORCID: https://orcid.org/0000-0002-2632-2409)
- Robert Śmigiel (ORCID: https://orcid.org/0000-0003-2930-9549)
- Piotr Podolec (ORCID: https://orcid.org/0000-0001-6101-2935)
- Michał Nowicki (ORCID: https://orcid.org/0000-0002-0823-5440)
- Tomasz Grodzicki (ORCID: https://orcid.org/0000-0003-0159-4915)
- Mariusz Kusztal (ORCID: https://orcid.org/0000-0002-6502-0374)
- Mariusz Kłopotowski (ORCID: https://orcid.org/0000-0002-4316-5417)
- Konrad Rejdak (ORCID: https://orcid.org/0000-0002-7019-6681)
- Agnieszka Słowik (ORCID: https://orcid.org/0000-0002-8261-537X)
- Magdalena Kostkiewicz (ORCID: https://orcid.org/0000-0001-9094-3202)
- Urszula Gancarczyk (ORCID: https://orcid.org/0000-0003-2283-3356)
- Robert Gil (ORCID: https://orcid.org/0000-0002-9041-3313)
- Łukasz Przysło (ORCID: https://orcid.org/0000-0003-0209-4103)
- Dariusz Rokicki (ORCID: https://orcid.org/0000-0002-9736-2838)
- Jacek Cezary Szepietowski (ORCID: https://orcid.org/0000-0003-0766-6342)
- Katarzyna Życińska (ORCID: https://orcid.org/0000-0002-0892-1870)
- Sylwia Szczepara
- Krzysztof Kaczmarek (ORCID: https://orcid.org/0000-0003-1356-5249)
- Sd Mackowiak
Institutions
- Poznan University of Medical Sciences (PL)
- Medical University of Lublin (PL)
- Jagiellonian University (PL)
- Medical University of Warsaw (PL)
- Wroclaw Medical University (PL)
- Patients First (US)
- John Paul II Hospital (PL)
- Medical University of Lodz (PL)
- Ministry of Interior and Administration (PL)
- Institute of Cardiology (PL)
- Central Clinical Hospital (PL)
- ERN GUARD-Heart (NL)
- The Patients Association (GB)
- Cardinal Stefan Wyszynski University in Warsaw (PL)
- Gdańsk Medical University (PL)
- University of Rzeszów (PL)
Publication Details
- Journal
- Kardiologia Polska
- Published
- 2024-12-06
- DOI
- https://doi.org/10.33963/v.phj.103915
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00