Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case
Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of...
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MDPI AG
2022-06-01
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| author | Carmela Zizzo Irene Ruggeri Paolo Colomba Christiano Argano Daniele Francofonte Marcomaria Zora Emanuela Maria Marsana Giovanni Duro Salvatore Corrao |
| author_facet | Carmela Zizzo Irene Ruggeri Paolo Colomba Christiano Argano Daniele Francofonte Marcomaria Zora Emanuela Maria Marsana Giovanni Duro Salvatore Corrao |
| author_sort | Carmela Zizzo |
| collection | DOAJ |
| description | Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound heterozygosity N370S/RecNciI. We know that patients suffering from Gaucher disease can also have high ferritin levels. Even if the mechanism underlying the changes in iron metabolism is not yet elucidated, the chronic mild inflammatory state present in these patients probably causes the storage of ferritin in macrophages, resulting in hyperferritinemia. Therefore, in the presence of few typical signs and symptoms of the disease should raise an alarm bell in the clinicians, inducing clinical suspicion of Gaucher disease. Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients. |
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| id | doaj.art-02f9fa195e4d420195eecb892bbe18d9 |
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| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-10T00:22:23Z |
| publishDate | 2022-06-01 |
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| spelling | doaj.art-02f9fa195e4d420195eecb892bbe18d92023-11-23T15:40:26ZengMDPI AGBiology2079-77372022-06-0111691410.3390/biology11060914Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical CaseCarmela Zizzo0Irene Ruggeri1Paolo Colomba2Christiano Argano3Daniele Francofonte4Marcomaria Zora5Emanuela Maria Marsana6Giovanni Duro7Salvatore Corrao8Institute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyDepartment of Internal Medicine, National Relevance and High Specialization Hospital Trust ARNAS Civico, Di Cristina, Benfratelli, 90127 Palermo, ItalyInstitute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyDepartment of Internal Medicine, National Relevance and High Specialization Hospital Trust ARNAS Civico, Di Cristina, Benfratelli, 90127 Palermo, ItalyInstitute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyInstitute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyInstitute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyInstitute for Biomedical Research and Innovation (IRIB) National Research Council (CNR), Via Ugo la Malfa 153, 90146 Palermo, ItalyDepartment of Internal Medicine, National Relevance and High Specialization Hospital Trust ARNAS Civico, Di Cristina, Benfratelli, 90127 Palermo, ItalyGaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound heterozygosity N370S/RecNciI. We know that patients suffering from Gaucher disease can also have high ferritin levels. Even if the mechanism underlying the changes in iron metabolism is not yet elucidated, the chronic mild inflammatory state present in these patients probably causes the storage of ferritin in macrophages, resulting in hyperferritinemia. Therefore, in the presence of few typical signs and symptoms of the disease should raise an alarm bell in the clinicians, inducing clinical suspicion of Gaucher disease. Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.https://www.mdpi.com/2079-7737/11/6/914Gaucher diseasehyperferritinemiahemochromatosismisdiagnosis |
| spellingShingle | Carmela Zizzo Irene Ruggeri Paolo Colomba Christiano Argano Daniele Francofonte Marcomaria Zora Emanuela Maria Marsana Giovanni Duro Salvatore Corrao Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case Biology Gaucher disease hyperferritinemia hemochromatosis misdiagnosis |
| title | Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case |
| title_full | Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case |
| title_fullStr | Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case |
| title_full_unstemmed | Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case |
| title_short | Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case |
| title_sort | hemochromatosis mimicked gaucher disease role of hyperferritinemia in evaluation of a clinical case |
| topic | Gaucher disease hyperferritinemia hemochromatosis misdiagnosis |
| url | https://www.mdpi.com/2079-7737/11/6/914 |
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