Cytopenia and Bone Marrow Dysplasia in a Case of Wilson’s Disease

Muniyappa, Usha; Mallya, P Sachidananda; Rau, Atk

doi:10.1007/s12288-014-0456-3

Cited by 10 publications

(8 citation statements)

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“…Clinically, relevant coagulopathy due to primary pathology has not been reported. However, pancytopenia, including thrombocytopenia, is a known adverse effect of penicillamine therapy [4]. Deranged coagulation parameters with superimposed penicillamine-induced pancytopenia may be a cause of ICH as seen with our patient.…”

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confidence: 52%

A rare case of Wilson disease associated with intracerebral hemorrhage

Singh

Krishna

Gupta

et al. 2020

Korean J Anesthesiol

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Wilson disease is an inherited autosomal recessive disease of copper metabolism that results in copper toxicity; it has an incidence of 1 in 40,000 [1]. Wilson disease is associated with liver failure; however, evidence on its bleeding tendencies is equivocal [2]. We present a case of Wilson disease with secondary parkinsonism and liver cirrhosis complicated by intracerebral hemorrhage (ICH), which has not yet been reported in the literature. Patient consent was obtained for this report. A 35-year-old man, who had been diagnosed with Wilson disease two years earlier, presented with inability to sleep and increased tremors that had lasted for a month. He had secondary Parkinsonism along with child Pugh A liver cirrhosis that had lasted for 1 year. He also had bipolar disease and alcohol and cannabis abuse disorders, and was on regular follow-up at a psychiatric clinic. Clinically, he had extrapyramidal symptoms. Hematological investigations were essentially normal; however, biochemistry revealed a serum ceruloplasmin level < 9.5 mg/dl and 24-hour urinary copper level of 398.18 µg/day, which are consistent with Wilson disease. Ultrasonography of the abdomen revealed hepatomegaly with coarse echotexture and splenomegaly. Portal hypertension was diagnosed on the basis of color doppler flow imaging findings, and upper gastrointestinal endoscopy revealed small varices with severe portal hypertensive gastropathy and gastric antral vascular ectasia. At the time of reporting, the patient was undergoing zinc treatment for Wilson disease. He was admitted, and penicillamine treatment was initiated. His anti-parkinsonism treatment was also optimized. He was discharged after 1 week and scheduled for regular follow-up. One month after the initiation of penicillamine and while on follow-up, he developed pancytopenia with a hemoglobin (Hb) level of 12.8 g/dl total leukocyte count of 4.1 × 10 9 /L and platelet count of 70 × 10 9 /L. Given the pancytopenia, penicillamine was discontinued and the zinc tablet dosing was increased. At 1 week post-cessation of the penicillamine therapy, he had a left-sided focal seizure associated with extensor posturing of the right limbs and altered sensorium. On clinical evaluation, the patient had a pulse of 66 beats/min and blood pressure of 126/84 mmHg with a right gaze preference, extensor posturing, fixed dilated right pupil, and left pupil at 6 mm with sluggish reaction. Urgent non-contrast computed tomography of the head revealed a large left basal ganglia hemorrhage with an intraventricular extension (13-mm midline shift) and uncal herniation (Fig. 1). Anti-compression measures were initiated with mannitol. He was intubated and mechanically ventilated. Hematology revealed a Hb level of 9.4 g/dl and platelet count of 43 × 10 9 /L with an international normalized ratio of 1.65. The external ventricular drain was placed following neurosurgical consultation, and blood component transfusion was administered with 6 units of random donor platelets Letter to the Editor

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confidence: 52%

A rare case of Wilson disease associated with intracerebral hemorrhage

Singh

Krishna

Gupta

et al. 2020

Korean J Anesthesiol

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“…At the age of 11.3 years, she was found to have severe anemia by the local heamatologist, without hemolysis or hemorrhage. She received erythrocyte transfusion, no cessation of zinc, which did not improve hypocupremia and anemia obviously, as Rau AR reported that anemia following penicillamine in a WD patient did not respond to treatment with hematinics [13]. The mechanism needs further study.…”

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confidence: 99%

“…Seven patients were adults. The only child among them was a 16-year-old boy who had anemia after initial penicillamine therapy for 2 year and anemia worsened after switching to high dose zinc for 9 months [13]. Five patients received over-dose zinc, while three received conventional dose.…”

Section: Discussionmentioning

confidence: 99%

Anemia following zinc treatment for Wilson’s disease: a case report and literature review

et al. 2019

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Background Zinc therapy is considered an effective and safe treatment for Wilson’s disease. Hypocupremia-related anemia is rarely reported after long-term zinc administration or combination therapy with copper-chelating agent. Case presentation We herein report a 12-year-old girl with pre-symptomatic Wilson’s disease diagnosed 5 years ago who presented with severe anemia after high-dose oral zinc for 4 years and 4 months. Her hemoglobin was gradually restored to the normal range after the adjustment of zinc dose and diet therapy for 4 months. A review of the literature revealed eight patients with hypocupremia-associated anemia following zinc therapy for Wilson’s disease, including 7 adults and 1 child. The only child patient was a 16-year-old boy, in whom the zinc therapy was succession to penicillamine administration. Conclusions This is the first report worldwide that a child developed severe anemia following high-dose single zinc administration for Wilson’s disease. It highlights the importance of regular follow-up during zinc treatment and the involvement of specialists in the long-term management of Wilson’s disease. We hope that this will alert pediatricians the issue of zinc over-treatment.

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“…Anemia and neutropenia were the most common hematologic abnormalities identified in copper deficiency patients[29,30]. It was considered that hypocupremia may be a reversible cause of bone marrow dysplasia that caused cytopenia[31]. Hypocupremia induced bone marrow dysplasia may be involved in thrombocytopenia.…”

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confidence: 99%

Wilson disease associated with immune thrombocytopenia: A case report and review of the literature

Sun

Yao

et al. 2019

WJCC

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BACKGROUNDWilson disease (WD) is a genetic disorder of hepatic copper excretion, leading to copper accumulation in various tissues. The manifestations are quite variable, and hemolytic anemia is the most common hematological presentation. WD associated with thrombocytopenia is very rare.CASE SUMMARYWe report the case of an 11-year-old Chinese girl with WD that was associated with immune thrombocytopenia (ITP). Thrombocytopenia was the initial chief complaint for her to visit a hematologist, and ITP was diagnosed based on the results of a bone marrow biopsy and positive antiplatelet autoantibodies. About two weeks before the thrombocytopenia was found, the patient developed drooling. Tremors developed in her right hand about one week after being diagnosed with ITP, after which she was admitted to our hospital. Further evaluations were performed. Ceruloplasmin was decreased, with an increased level of copper in her 24-h urine excretion. Kayser Fleischer's ring (K-F ring) was positive. The ultrasound showed liver cirrhosis, and brain magnetic resonance imaging showed that the lenticular nucleus, caudate nucleus, and brainstem presented a low signal intensity in T1-weighted images and high signal intensity in T2-weighted images. WD was diagnosed and a genetic analysis was performed. A compound heterozygous mutation in ATP7B was detected; c.2333G>T (p.Arg778Leu) in exon 8 and c.3809A>G (p.Asn1270Ser) in exon 18. The former was inherited from her father and the latter from her mother. However, her parents showed normal liver function and negative K-F rings. Such a compound mutation in a case of WD associated with ITP in children has not been published previously.CONCLUSIONWD can associate with thrombocytopenia but the mechanism is still unclear. We recommend that antiplatelet autoantibodies should be tested in WD patients with thrombocytopenia in future to verify the association.

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Cytopenia and Bone Marrow Dysplasia in a Case of Wilson’s Disease

Abstract: We describe a sixteen year old with

Cited by 10 publications

References 9 publications

A rare case of Wilson disease associated with intracerebral hemorrhage

A rare case of Wilson disease associated with intracerebral hemorrhage

Anemia following zinc treatment for Wilson’s disease: a case report and literature review

Wilson disease associated with immune thrombocytopenia: A case report and review of the literature

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