Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1‐yr Phase 2 study

Cançado, Rodolfo Delfini; Melo, Murilo Rezende; Bastos, Roberto de Moraes; Santos, Paulo C. J. L.; Guerra-Shinohara, Elvira María; Chiattone, Carlos S.; Ballas, Samir K.

doi:10.1111/ejh.12530

Cited by 47 publications

(21 citation statements)

References 31 publications

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“…In such patients, iron chelation is the mainstay of therapy . Iron chelation has been shown to decrease levels of SF in HH patients and may be used as an adjunctive or alternative therapy for patients in whom phlebotomy is ineffective or contraindicated .…”

Section: Treatment For Iron Overload Caused By Haemochromatosismentioning

confidence: 99%

Diagnosis and management of hereditary haemochromatosis

et al. 2020

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Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. The recognition of other aetiologies of elevated ferritin is also vital to ensure that appropriate intervention is provided and phlebotomy only utilized in patients who require it. In this review, we summarize the existing data on the work up and management of hereditary haemochromatosis and present a practical algorithm for the diagnosis and management of this disease.

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Section: Treatment For Iron Overload Caused By Haemochromatosismentioning

confidence: 99%

Diagnosis and management of hereditary haemochromatosis

et al. 2020

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“…Iron chelation is the recommended therapy for patients with acquired iron‐overload, for example in beta‐thalassaemia, and may be used to treat people with haemochromatosis who are refractory to or unable to receive phlebotomy. Deferasirox (Exjade; Novartis, Basel, Switzerland) is an iron chelator administered daily as an oral tablet, and has proven effective in both cases of acquired and HFE ‐related iron overload . However, its expense precludes routine use in primary iron overload.…”

Section: Treatment and Managementmentioning

confidence: 99%

Haemochromatosis: a clinical update for the practising physician

Radford-Smith

Powell

2018

Internal Medicine Journal

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Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of the iron regulatory protein, hepcidin. Progressive iron deposition in parenchymal tissues may ultimately lead to liver and other organ toxicity. The characteristic biochemical abnormalities are raised serum ferritin and transferrin saturation, which can be used in conjunction with genetic tests and emerging magnetic resonance imaging-based techniques to diagnose patients with the disorder. Progressive iron overload can manifest clinically as advanced fibrosis, cirrhosis and hepatocellular carcinoma. Enigmatically, the penetrance of both raised iron indices and clinically significant disease is incomplete in patients with hereditary haemochromatosis. Regardless, advanced clinical presentations of the disease have become less common due to increased awareness and earlier diagnosis. On the other hand, obesity and alcohol have been identified as major risk factors that can compound the risk of liver injury in people with hereditary (HFE) haemochromatosis. The prospect of modifying genes that may contribute to the clinical expression of the disease is the subject of ongoing research. Treatment with phlebotomy remains the first-line therapy, and if instigated early leads to a normal life expectancy. A healthy, well-balanced diet is recommended to be incorporated as part of the ongoing management of the disease.

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“…Prolonged subcutaneous infusions of desferrioxamine can then be proposed, and, if poorly tolerated, an oral chelator (such as deferasirox 37,38 ) remains an "off-label" possibility (under the responsibility of the medical prescriber and with written informed consent of the patient).…”

Section: Chelation Therapymentioning

confidence: 99%

Clinical management of hemochromatosis: current perspectives

Brissot¹,

Cavey²,

Ropert³

et al. 2017

IJCTM

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Hemochromatosis (HC) corresponds to systemic iron overload of genetic origin. Its spectrum covers HFE-related HC, a frequent disease exclusively present in Caucasians; however, several entities of non-HFE-related HC, which correspond to very rare disorders, have been observed in both Caucasian and non-Caucasian populations. In most HC forms, iron overload is explained by hepcidin deficiency, which increases iron delivery into the plasma from both duodenal and splenic sources, with subsequent organ iron deposition. The diagnosis depends on a noninvasive approach combining clinical, biological, and imaging data. The treatment remains largely based on phlebotomy therapy, which is rarely replaced with erythrocytapheresis or chelation therapy. Hepcidin supplementation represents the logical therapeutics of the future for all HC forms related to hepcidin deficiency.

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Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1‐yr Phase 2 study

Cited by 47 publications

References 31 publications

Diagnosis and management of hereditary haemochromatosis

Diagnosis and management of hereditary haemochromatosis

Haemochromatosis: a clinical update for the practising physician

Clinical management of hemochromatosis: current perspectives

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