Abstract
Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i.e., whether it is the result of an absolute iron deficiency or the anemia of chronic disease (ACD). Blood samples from 67 EPP patients (51 Italian and 16 Swiss) and 21 healthy volunteers were analyzed. EPP patients had lower ferritin (p = 0.021) and hepcidin (p = 0.031) concentrations and higher zinc–protoporphyrin (p < 0.0001) and soluble-transferrin-receptor (p = 0.0007) concentrations compared with controls. This indicated that anemia in EPP resulted from an absolute iron deficiency. Among EPP patients, PPIX concentrations correlated with both growth differentiation factor (GDF) 15 (p = 0.012) and male gender (p = 0.015). Among a subgroup of patients who were iron replete, hemoglobin levels were normal, which suggested that iron but not ferrochelatase is the limiting factor in heme synthesis of individuals with EPP.
| Original language | English |
|---|---|
| Pages (from-to) | 433-441 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 40 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 2017 |
Fingerprint
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. / Barman-Aksoezen, Jasmin; Girelli, Domenico; Aurizi, Caterina; Schneider-Yin, Xiaoye; Campostrini, Natascia; Barbieri, Luca; Minder, Elisabeth I.; Biolcati, Gianfranco.
In: Journal of Inherited Metabolic Disease, Vol. 40, No. 3, 05.2017, p. 433-441.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
AU - Barman-Aksoezen, Jasmin
AU - Girelli, Domenico
AU - Aurizi, Caterina
AU - Schneider-Yin, Xiaoye
AU - Campostrini, Natascia
AU - Barbieri, Luca
AU - Minder, Elisabeth I.
AU - Biolcati, Gianfranco
PY - 2017/5
Y1 - 2017/5
N2 - Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i.e., whether it is the result of an absolute iron deficiency or the anemia of chronic disease (ACD). Blood samples from 67 EPP patients (51 Italian and 16 Swiss) and 21 healthy volunteers were analyzed. EPP patients had lower ferritin (p = 0.021) and hepcidin (p = 0.031) concentrations and higher zinc–protoporphyrin (p < 0.0001) and soluble-transferrin-receptor (p = 0.0007) concentrations compared with controls. This indicated that anemia in EPP resulted from an absolute iron deficiency. Among EPP patients, PPIX concentrations correlated with both growth differentiation factor (GDF) 15 (p = 0.012) and male gender (p = 0.015). Among a subgroup of patients who were iron replete, hemoglobin levels were normal, which suggested that iron but not ferrochelatase is the limiting factor in heme synthesis of individuals with EPP.
AB - Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i.e., whether it is the result of an absolute iron deficiency or the anemia of chronic disease (ACD). Blood samples from 67 EPP patients (51 Italian and 16 Swiss) and 21 healthy volunteers were analyzed. EPP patients had lower ferritin (p = 0.021) and hepcidin (p = 0.031) concentrations and higher zinc–protoporphyrin (p < 0.0001) and soluble-transferrin-receptor (p = 0.0007) concentrations compared with controls. This indicated that anemia in EPP resulted from an absolute iron deficiency. Among EPP patients, PPIX concentrations correlated with both growth differentiation factor (GDF) 15 (p = 0.012) and male gender (p = 0.015). Among a subgroup of patients who were iron replete, hemoglobin levels were normal, which suggested that iron but not ferrochelatase is the limiting factor in heme synthesis of individuals with EPP.
UR - http://www.scopus.com/inward/record.url?scp=85011829513&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85011829513&partnerID=8YFLogxK
U2 - 10.1007/s10545-017-0017-7
DO - 10.1007/s10545-017-0017-7
M3 - Article
C2 - 28185024
AN - SCOPUS:85011829513
VL - 40
SP - 433
EP - 441
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 3
ER -