TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines
Hereditary hemochromatosis (HH) related to HFE-gene mutations is a well-known condition, yet its understanding remains complex. The BIOIRON classification emphasizes that only homozygosity for the C282Y mutation should be considered pathogenic. The penetrance of HFE-related HH is highly variable. Sy...
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MDPI AG
2024-12-01
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| Online Access: | https://www.mdpi.com/2673-6357/5/4/35 |
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| author | Chiara Marcon Marta Medeot Alessio Michelazzi Valentina Simeon Alessandra Poz Sara Cmet Elisabetta Fontanini Anna Rosa Cussigh Marianna Chiozzotto Giovanni Barillari |
| author_facet | Chiara Marcon Marta Medeot Alessio Michelazzi Valentina Simeon Alessandra Poz Sara Cmet Elisabetta Fontanini Anna Rosa Cussigh Marianna Chiozzotto Giovanni Barillari |
| author_sort | Chiara Marcon |
| collection | DOAJ |
| description | Hereditary hemochromatosis (HH) related to HFE-gene mutations is a well-known condition, yet its understanding remains complex. The BIOIRON classification emphasizes that only homozygosity for the C282Y mutation should be considered pathogenic. The penetrance of HFE-related HH is highly variable. Symptoms are often challenging to recognize at the time of presentation, and the systemic involvement may overlap with other diseases. Hyperferritinemia and elevated transferrin saturation levels are still the milestones in HH diagnosis, but they are also common findings in many other clinical conditions. Furthermore, current diagnostic and therapeutic guidelines are not always unequivocal in defining HH patients’ characteristics, as well as treatment management and goals. Our work provides a concise overview of the latest evidence regarding pathogenic mechanisms, clinical picture, differential diagnosis and diagnostic tools. Alongside this, it summarizes and compares the main recommendations from principal guidelines issued by the 2017 Hemochromatosis International Meeting, the American College of Gastroenterology, the European Association for the Study of the Liver, the European Molecular Genetics Quality Network, the DUTCH guidelines, and the British Society for Haematology. Summarizing tables for quick consultation are also provided. |
| format | Article |
| id | doaj-art-9deaa55654d84e79899e665e54c237dd |
| institution | DOAJ |
| issn | 2673-6357 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hemato |
| spelling | doaj-art-9deaa55654d84e79899e665e54c237dd2025-08-20T02:50:59ZengMDPI AGHemato2673-63572024-12-015445948910.3390/hemato5040035TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its GuidelinesChiara Marcon0Marta Medeot1Alessio Michelazzi2Valentina Simeon3Alessandra Poz4Sara Cmet5Elisabetta Fontanini6Anna Rosa Cussigh7Marianna Chiozzotto8Giovanni Barillari9Departement of Blood Transfusion Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDepartement of Blood Transfusion Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDivision of Laboratory Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDepartement of Blood Transfusion Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDepartment of Hemorrhagic and Thrombotic Diseases, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDivision of Laboratory Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDivision of Laboratory Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDivision of Laboratory Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDepartement of Blood Transfusion Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyDepartement of Blood Transfusion Medicine, S. Maria della Misericordia Hospital, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, ItalyHereditary hemochromatosis (HH) related to HFE-gene mutations is a well-known condition, yet its understanding remains complex. The BIOIRON classification emphasizes that only homozygosity for the C282Y mutation should be considered pathogenic. The penetrance of HFE-related HH is highly variable. Symptoms are often challenging to recognize at the time of presentation, and the systemic involvement may overlap with other diseases. Hyperferritinemia and elevated transferrin saturation levels are still the milestones in HH diagnosis, but they are also common findings in many other clinical conditions. Furthermore, current diagnostic and therapeutic guidelines are not always unequivocal in defining HH patients’ characteristics, as well as treatment management and goals. Our work provides a concise overview of the latest evidence regarding pathogenic mechanisms, clinical picture, differential diagnosis and diagnostic tools. Alongside this, it summarizes and compares the main recommendations from principal guidelines issued by the 2017 Hemochromatosis International Meeting, the American College of Gastroenterology, the European Association for the Study of the Liver, the European Molecular Genetics Quality Network, the DUTCH guidelines, and the British Society for Haematology. Summarizing tables for quick consultation are also provided.https://www.mdpi.com/2673-6357/5/4/35hereditary hemochromatosishyperferritinemiatransferrin saturation levelsdifferential diagnosisguidelines |
| spellingShingle | Chiara Marcon Marta Medeot Alessio Michelazzi Valentina Simeon Alessandra Poz Sara Cmet Elisabetta Fontanini Anna Rosa Cussigh Marianna Chiozzotto Giovanni Barillari TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines Hemato hereditary hemochromatosis hyperferritinemia transferrin saturation levels differential diagnosis guidelines |
| title | TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines |
| title_full | TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines |
| title_fullStr | TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines |
| title_full_unstemmed | TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines |
| title_short | TSAT-Urated Insights: Clarifying the Complexities of Hereditary Hemochromatosis and Its Guidelines |
| title_sort | tsat urated insights clarifying the complexities of hereditary hemochromatosis and its guidelines |
| topic | hereditary hemochromatosis hyperferritinemia transferrin saturation levels differential diagnosis guidelines |
| url | https://www.mdpi.com/2673-6357/5/4/35 |
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