The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

• Published in: Genetics and molecular biology Vol. 39; no. 1; pp. 30 - 34
• Main Authors: Koppe, Tiago, Doneda, Divair, Siebert, Marina, Paskulin, Livia, Camargo, Matheus, Tirelli, Kristiane Michelin, Vairo, Filippo, Daudt, Liane, Schwartz, Ida Vanessa D
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Genética 01.03.2016
• Subjects: BIOCHEMISTRY & MOLECULAR BIOLOGY; biomarkers; ferritin; Gaucher disease; GENETICS & HEREDITY; Human and Medical Genetics; iron metabolism; iron metabolism; ferritin; Gaucher disease; biomarkers
• ISSN: 1415-4757; 1678-4685; 1415-4757; 1678-4685
• DOI: 10.1590/1678-4685-GMB-2015-0125

The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy (n = 2), and ferritin was found to decrease from 756 [318-1441] ng/mL at baseline to 521 [227-626] ng/mL (p=0.025) after 28.8 month soft treatment. Serum ferritin levels did not correlate with measures of disease severity, but showed an association with age at onset of treatment (ρ= 0.880; n = 18; p < 0.001). In conclusion, although serum ferritin did not correlate with disease severity, after a median 28.8 months of treatment, clinical outcomes had clearly improved, and ferritin levels had decreased.