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Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature.
Miyake, Z, Nakamagoe, K, Yoshida, K, Kondo, T, Tamaoka, A
Internal medicine (Tokyo, Japan). 2020;(14):1755-1761
Abstract
The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cerebellar symptoms, which included dysarthria and limb ataxia. The present study and previous reports indicate that cerebellar symptoms with aceruloplasminemia might respond to deferasirox in less than one year.
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2.
Aceruloplasminaemia: a rare but important cause of iron overload.
Doyle, A, Rusli, F, Bhathal, P
BMJ case reports. 2015
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Abstract
We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
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A case report of deferasirox-induced kidney injury and Fanconi syndrome.
Murphy, N, Elramah, M, Vats, H, Zhong, W, Chan, MR
WMJ : official publication of the State Medical Society of Wisconsin. 2013;(4):177-80
Abstract
Cases of kidney injury associated with the use of deferasirox chelation therapy during the course of treatment for iron overload have been reported infrequently. We present the case of a patient treated with deferasirox who had biopsy-proven tubular injury in the setting of clinical Fanconi syndrome. The patient required hospitalization for metabolic acidosis, electrolyte abnormalities, and associated symptoms. With supportive care and cessation of chelation therapy he improved, but has yet to fully recover. This is the first known case reporting biopsy-proven tubular damage in the setting of deferasirox use.
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Hematopoietic recovery after administration of deferasirox for transfusional iron overload in a case of myelodysplastic syndrome.
OKABE, H, SUZUKI, T, OMORI, T, MORI, M, UEHARA, E, HATANO, K, UEDA, M, MATSUYAMA, T, TOSHIMA, M, QZAKI, K, et al
[Rinsho ketsueki] The Japanese journal of clinical hematology. 2009;(11):1626-9
Abstract
Deferasirox (DFX) is a newly developed oral iron chelator that enables effective chelation with once daily administration. We describe here a case of transfusional-iron overloaded patient who experienced hematopoietic recovery after DFX administration. A 75-year-old woman with iron overload, who had been diagnosed with MDS (RCMD) and had received a transfusion of red blood cells and platelets regularly for 3 years, enrolled in the phase I clinical trial of ICL670 (DFX) in Japan. DFX administration steadily decreased her serum ferritin levels and chelated overloaded iron effectively. Interestingly, a year after initiation of the trial, she needed fewer blood transfusions, and no more transfusions after the 17th month of the trial. Even after suspending transfusions, her hemoglobin level and platelet count increased continuously, and she now has stable disease without blood transfusions. She has not received any specific treatment for MDS during this period. Examination of the bone marrow aspirates in the 35th month revealed dysplastic cells, indicating no remarkable change in the state of MDS. This case suggests that excess iron hampers hematopoiesis and that adequate iron chelation may improve hematological data in some iron-overloaded patients.
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Deferiprone-related arthropathy of the knee in a thalassemic patient: report of a case and review of the literature.
Vlachaki, E, Tselios, K, Perifanis, V, Tsatra, I, Tsayas, I
Clinical rheumatology. 2008;(11):1459-61
Abstract
Deferiprone (DFP), the first oral iron chelator, has been used in patients with beta-thalassemia major to reduce serum ferritin levels and total iron burden, leading to decreased cardiac iron levels. Major side effects include embryotoxicity, agranulocytosis, zinc deficiency and gastrointestinal disorders, while arthropathy is rarely reported. Herein, we present a 29-year-old male patient with beta-thalassemia major, who developed severe arthritis of both knees while under deferiprone therapy. Arthritis was managed successfully with non-steroid antiinflammatory drugs after DFP withdrawal.