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

Abstract

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.

Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review

“…Thrombocytopenia with negative antiplatelet antibodies has been reported in children, attributed to hypersplenism and/or D-penicillamine therapy’s side-effects [ 22 ]. A few studies have indicated idiopathic thrombocytopenia as an initial sign in patients with WD [ 23 , 24 ]. Our patient presented with thrombocytopenia, macroplatelets, and Döhle-like cytoplasmic inclusions in the megakaryocytes.…”

Tremor/Myoclonus Syndrome Associated with Thrombotic Thrombocytopenic Purpura: Case Report and Review of Literature

“…Bilirubin toxicity on basal ganglia is, in fact, well known 4,10 . Tremor is a feature of Wilson's Disease (WD), 7 which is characterized by liver dysfunction and hemolytic anemia 7 and can be associated with thrombocytopenia, 8 caused by the accumulation of copper. In addition, Bilirubin levels are increased in PD patients, 6 especially in tremor‐dominant ones, 5 and this could be due to the antioxidative properties bilirubin has in substantia nigra 6 …”

Peculiarities of clinical course of Wilson's disease in children

“…Дані літератури свідчать, що до пубертатного віку ХВ найчастіше характе ризується ураженням печінки або проявами гемолізу [7]. Для гемолітичних проявів у дітей більш характерною є Кумбс негативна гемолі тична анемія, водночас імунна тромбоцитопе нія притаманна дорослим [16]. Гепатоце люлярна карцинома та внутрішньопечінкова холангіокарцинома у хворих із ХВ зустріча ється з частотою 1,2% [11].…”