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

Biology (Basel). 2022 Jun 15;11(6):914. doi: 10.3390/biology11060914.

PMID: 35741435

Carmela Zizzo, Irene Ruggeri, Paolo Colomba

Highlights: Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

Abstract

Background: The lysosomal disorder known as Gaucher disease is brought on by a functional defect in the glucocerebrosidase enzyme. The GBA1 gene, which controls the gradual storage of glucosylceramide substrate in the patient's macrophages, is primarily responsible for the condition.

Objective: This article discusses the case of a 38-year-old man who, ten years before to his clinical presentation, had been diagnosed with hemochromatosis.

Results: He had hyperferritinemia, thrombocytopenia, leukopenia, anemia, and mild splenomegaly. Gaucher disease was suspected following a reevaluation of the clinical case, and this hypothesis was later verified by enzymatic study, which revealed that the enzyme levels were below normal, and genetic analysis, which revealed compound heterozygosity N370S/RecNciI. It is known that individuals with Gaucher disease may also have elevated ferritin levels. Even while the exact mechanism underlying the alterations in iron metabolism is yet unknown, it is likely that the mild chronic inflammation prevalent in these patients is what causes the ferritin to be stored in macrophages, which leads to hyperferritinemia.

Conclusion: As a result, the presence of a few of the disease's typical signs and symptoms should cause clinicians to develop a clinical suspicion of Gaucher disease. Misdiagnosis and delayed diagnosis of metabolic diseases have the potential to result in irreversible organ damage and postpone the beginning of a patient's specific treatment.

Keywords: Gaucher disease, hemochromatosis, hyperferritinemia, misdiagnosis