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

Koppe, Tiago; Doneda, Divair; Siebert, Marina; Paskulin, Livia; Camargo, Matheus; Tirelli, Kristiane Michelin; Vairo, Filippo; Daudt, Liane; Schwartz, Ida Vanessa D.

doi:10.1590/1678-4685-GMB-2015-0125

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Human and Medical Genetics • Genet. Mol. Biol. 39 (1) • Jan-Mar 2016 • https://doi.org/10.1590/1678-4685-GMB-2015-0125 copy

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

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

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.

Keywords
ferritin; biomarkers; Gaucher disease; iron metabolism

	Pre-treatment (n = 18)	Post-treatment (n = 18)	p
Clinical findings:
-Abdominal pain	11	5	0.070
-Bleeding ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).	10	2	0.008
-Bone involvement¹ 1 Bone involvement was considered whenever patients mentioned pain/pathological fractures without any other attributable cause, or in the presence of imaging evidence of bone disease (e.g., osteopenia on bone densitometry).	14	12	0.500
-Splenomegaly² 2 Three patients had undergone splenectomy.	14/n = 15	11/n = 15	0.250
-Hepatomegaly	11	6	0.125
-BMI³ 3 Body Mass Index (Kg/m): < 18.5 – underweight; 18.5-24.9 – normal weight; 25-29.9 – overweight and > 30 – obesity (kg/m²)	23.8 [20.9-27.7]	24.6 [21.6-28.1]	0.170
Hemoglobin ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL). (g/dL)	12.6 [10.1-13.9]	14 [11.6-15]	0.005
Leukocytes (x103 /μL)^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).	4.15 [2.93-6.8]	4.9 [4.5-7]	0.050
Platelets^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL). (x103 /μL)	79 [63.7-146.7]	145.5 [116-171]	0.002
ALT (IU/L)	22.5 [15-35.7]	27 [18-43]/n = 17	0.093
LDH (IU/L)	317 [246-360]/n = 15	296 [238-368]/n = 17	0.778
Chitotriosidase ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL). (x103) nmol/h/mL)	14 [7.9-14.7]	3.7 [1.7-5.5]	0.002
SSI ⁴ 4 Clinical Severity Score Index: 0-9 – mild; 10-19 – moderate and > 20 – severe. ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).	7 [4-12]/n = 15	2 [1-5.5]/n = 17	0.001
BMB score⁵ 5 Bone Marrow Burden score: 0-4 – mild; 5-8 – moderate and 9-16 – severe.	8.5 [4.5-12]/n = 14	7 [4.25-10]/n = 12	0.180
Serum ferritin (ng/mL) ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).
-Total ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).	756 [318-1441]	521 [227-626]	0.025
-Male ^* * p <0.05 after McNemar or Wilcoxon signed-rank test; Reference values: serum ferritin (males: 22-322 ng/mL and females: 10-291 ng/mL); transferrin saturation (25-50%) and serum iron (50-170 μg/dL).	811 [614-1544]/n = 9	528 [369-653]/n = 9	0.038
-Female	328 [190-1174]/n = 9	362 [123-624]/n = 9	0.374
Transferrin saturation (%)	19 [14-32]/n = 8	28 [23-34]/n = 13	0.138
Serum iron (μg/dL)	56 [46-89]/n = 10	91 [72-99]/n = 13	0.176

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[1] Send correspondence to Ida V. Doederlein Schwartz. Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre. Rua Ramiro Barcelos 2350, Bairro Rio Branco, 90035-903 Porto Alegre, RS, E-mail:ischwartz@hcpa.ufrgs.br