Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

SIMPLE SUMMARY: In this paper, we describe the problem of diagnostic delay in Gaucher disease through the evaluation of a clinical case and how some clinical–instrumental parameters, such as hyperferritinemia should trigger an alarm bell in clinicians, inducing the clinical suspicion of Gaucher disease. In the described case of a 38-year-old man, the first diagnosis of hemochromatosis was updated to type 1 Gaucher disease years later. Analysis of the clinical case showed that the first diagnosis of hemochromatosis had been made almost exclusively based on a finding of high levels of ferritin and splenomegaly. Type 1 Gaucher disease and hereditary hemochromatosis show common clinical features, such as asthenia, joint pain, splenomegaly and hyperferritinemia. For this reason, in the presence of “unexplained hyperferritinemia” it is necessary to consider Gaucher disease in differential diagnosis, even if few typical signs and symptoms of the disease are present. The combination of a careful clinical history with simple first-level investigations may be sufficient to make differential diagnosis, also including rare conditions, such as Gaucher disease. Misdiagnosis and delayed diagnosis in metabolic diseases can lead to irreversible organ damage and a delayed start of specific therapy for these patients. ABSTRACT: 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.