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Severe cardiac iron toxicity in two adults with sickle cell disease.

ABSTRACT: BACKGROUND:Use of chronic blood transfusions as a treatment modality in patients with blood disorders places them at risk for iron overload. Since patients with ?-thalassemia major (TM) are transfusion-dependent, most studies on iron overload and chelation have been conducted in this population. While available data suggest that compared to TM, patients with sickle cell disease (SCD) have a lower risk of extrahepatic iron overload, significant iron overload can develop. Further, previous studies have demonstrated a direct relationship between iron overload and morbidity and mortality rates in SCD. However, reports describing the outcome for patients with SCD and cardiac iron overload are rare. STUDY DESIGN AND METHODS:We performed a retrospective analysis and identified two SCD patients with cardiac iron overload. We provide detailed descriptions of both cases and their outcomes. RESULTS:Serum ferritin levels ranged between 17,000 and 19,000 ?g/L. Both had liver iron concentrations in excess of 35 mg of iron per gram of dried tissue as well as evidence of cardiac iron deposition on magnetic resonance imaging. One patient died of an arrhythmia and had evidence of severe multiorgan iron overload via autopsy. On the other hand, after appropriate therapy, a second patient had improvement in cardiac function. CONCLUSION:Improper treatment of iron overload in SCD can lead to a fatal outcome. Alternatively, iron overload may potentially be prevented or reversed with judicious use of blood transfusions and early use of chelation therapy, respectively.

SUBMITTER: Oduor H

PROVIDER: S-EPMC5352507 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Severe cardiac iron toxicity in two adults with sickle cell disease.

Oduor Hellen H Minniti Caterina P CP Brofferio Alessandra A Gharib Ahmed M AM Abd-Elmoniem Khaled Z KZ Hsieh Matthew M MM Tisdale John F JF Fitzhugh Courtney D CD

Transfusion 20161226 3

<h4>Background</h4>Use of chronic blood transfusions as a treatment modality in patients with blood disorders places them at risk for iron overload. Since patients with β-thalassemia major (TM) are transfusion-dependent, most studies on iron overload and chelation have been conducted in this population. While available data suggest that compared to TM, patients with sickle cell disease (SCD) have a lower risk of extrahepatic iron overload, significant iron overload can develop. Further, previous ...[more]

PMID: 28019032

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Project description:BACKGROUND AND OBJECTIVES:Metabolic acidosis is a frequent manifestation of sickle cell disease but the mechanisms and determinants of this disorder are unknown. Our aim was to characterize urinary acidification capacity in adults with sickle cell disease and to identify potential factors associated with decreased capacity to acidify urine. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:Among 25 adults with sickle cell disease and an eGFR of ?60 ml/min per 1.73 m2 from a single center in France, we performed an acute acidification test after simultaneous administration of furosemide and fludrocortisone. A normal response was defined as a decrease in urinary pH <5.3 and an increase in urinary ammonium excretion ?33 µEq/min at one or more of the six time points after furosemide and fludrocortisone administration. RESULTS:Of the participants (median [interquartile range] age of 36 [24-43] years old, 17 women), 12 had a normal and 13 had an abnormal response to the test. Among these 13 participants, nine had normal baseline plasma bicarbonate concentration. Plasma aldosterone was within the normal range for all 13 participants with an abnormal response, making the diagnosis of type 4 tubular acidosis unlikely. The participants with an abnormal response to the test were significantly older, more frequently treated with oral bicarbonate, had a higher plasma uric acid concentration, higher hemolysis activity, lower eGFR, lower baseline plasma bicarbonate concentration, higher urine pH, lower urine ammonium ion excretion, and lower fasting urine osmolality than those with a normal response. Considering both groups, the maximum urinary ammonium ion excretion was positively correlated with fasting urine osmolality (r 2=0.34, P=0.002), suggesting that participants with sickle cell disease and lower urine concentration capacity have lower urine acidification capacity. CONCLUSIONS:Among adults with sickle cell disease, impaired urinary acidification capacity attributable to distal tubular dysfunction is common and associated with the severity of hyposthenuria. PODCAST:This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2019_12_10_CJN07830719.mp3.

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Severe cardiac iron toxicity in two adults with sickle cell disease.

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Severe cardiac iron toxicity in two adults with sickle cell disease.

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