Homeostasis of iron and hepcidin in erythropoietic protoporphyria. (2nd September 2015)

• Record Type: Journal Article
• Authors: Bossi, Krista; Lee, Jingyun; Schmeltzer, Paul; Holburton, Eric; Groseclose, Gale; Besur, Siddesh; Hwang, Sunil; Bonkovsky, Herbert L.
• Is Part Of: European journal of clinical investigation. Volume 45:Number 10(2015:Oct.)
• Page Start: 1032
• Page End: 1041
• Publication Date: 2015-09-02
• Subjects: Pathology -- Periodicals; Medical research -- Periodicals; 616.075
• DOI: 10.1111/eci.12503
• Languages: English
• ISSNs: 0014-2972

Abstract

<abstract abstract-type="main" id="eci12503-abs-0001"> <title>Abstract</title> <sec id="eci12503-sec-0001" sec-type="section"> <title>Background</title> <p>Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are genetic abnormalities of heme synthesis that result in excess production of protoporphyrin and that manifest as severe photosensitivity. These disorders are often associated with iron deficiency anaemia (IDA). Our aim was to determine whether hepcidin is increased in EPP/XLP patients, resulting in decreased enteral iron absorption and IDA.</p> </sec> <sec id="eci12503-sec-0002" sec-type="section"> <title>Material and methods</title> <p>Eight subjects with EPP, one with XLP and nine controls had baseline blood and urine samples collected, and thereafter were given oral ferrous sulphate (660 mg). Post‐iron blood and urine samples were collected at 2, 4, 6 and 8 h. Blood counts, serum cytokines, ferritin and iron studies were analysed at baseline. Serum iron studies, serum and urine hepcidin, and erythropoietin (Epo) were analysed at baseline and subsequent time points.</p> </sec> <sec id="eci12503-sec-0003" sec-type="section"> <title>Results</title> <p>At baseline, EPP–XLP subjects had lower mean blood haemoglobin (13·9/15·3 g/dL) and serum ferritin (31·6/115 ng/mL) than controls. Serum iron levels increased markedly in both cohorts. Mean serum and urine hepcidin levels were significantly lower in the EPP–XLP group at 4 and 8 h post‐iron (serum – 4 h, 3·79/26·6, 8 h, 5·79/34·6 nM; urine – 4 h, 0·85/2·50, 8 h, 1·44/6·63 nM/mM creatinine). Serum cytokines and Epo were normal and not different between groups.</p> </sec> <sec id="eci12503-sec-0004" sec-type="section"> <title>Conclusions</title> <p>We conclude that serum and urine hepcidin are not inappropriately increased in EPP/XLP subjects at baseline and do not increase over time as serum iron increases after oral ferrous sulphate. Levels of serum cytokines and Epo are normal in EPP/XLP. The molecular basis for the iron‐deficient phenotype in EPP/XLP remains unknown.</p> </sec> </abstract>