CLINICAL BRIEF

Essential Thrombocytosis and Antiphospholipid AntibodySyndrome Causing Chronic Budd-Chiari Syndrome

Dinesh Yadav & Jagdish Chandra & Sunita Sharma &

Varinder Singh

Received: 31 December 2010 /Accepted: 22 July 2011 /Published online: 10 August 2011# Dr. K C Chaudhuri Foundation 2011

Abstract Essential thrombocytosis is extremely rare inchildren. However, when present, it is associated withincreased prevalence of antiphospholipid antibodies andthrombo-hemorrhagic complications. The authors reporthere a child with Budd-Chiari Syndrome resulting fromessential thrombocytosis and associated antiphospholipidantibodies. A 13- y-old boy presented with microcytichypochromic anemia, hepatosplenomegaly and thrombocy-tosis. CT scan demonstrated calcified thrombus in inferiorvena cava (IVC). Diagnosis of essential thrombocytosiswas considered in view of persistent thrombocytosis,antiphospholipid antibodies, bone marrow showing in-creased number, clusters and giant forms of megakaryo-cytes and IVC thrombosis. He was started on warfarinprophylaxis and did not have thrombotic recurrence onfollow up.

Keywords Budd Chiari syndrome . Essentialthrombocytosis . Antiphosholipid antibody syndrome

Introduction

Essential thrombocytosis (ET) is extremely rare in children(annual incidence 1 per 10 million). Increased prevalence ofantiphospholipid antibodies and thrombo-hemorrhagiccomplications have been reported in patients with ET [1].The authors hereby report a child with Budd-Chiarisyndrome (BCS) resulting from ET which though notuncommon in adults, is extremely rare in children.

Case Report

A 13-y-old boy presented with pallor, abdominal disten-sion, decreased appetite and low grade fever for 2 mon.There was no significant past or family history. Examina-tion revealed some pallor and firm hepato-splenomegaly,both 6 cm below costal margin. There was no icterus, skinbleeds, lymphadenopathy or ascites and other systems werenormal.

Blood investigations revealed microcytic hypochromicanemia (hemoglobin 5.9 g/dl) and mild thrombocytosis(689×109/L) with normal leukocyte count and correctedreticulocyte count was 0.5%. Hemoglobin electrophoresisand Glucose-6-phosphate dehydrogenase levels were nor-mal. His direct Coomb’s test was negative, bone marrowiron was zero and serum ferritin levels were 40.8 ng/ml.Bone marrow was hypercellular with normoblastic ery-throid hyperplasia. Megakaryocytes were increased innumber, in clusters with occasional giant megakaryocytes.Mantoux test was negative and chest radiograph wasnormal. Liver function tests and coagulation profile werenormal and HIV and Hepatitis B surface antigen were non-reactive. Abdominal ultrasound and CT scan revealedmultiple significant mesenteric lymph nodes, hepatospleno-

D. Yadav : J. Chandra :V. SinghDepartment of Pediatrics, Lady Hardinge Medical College andassociated Kalawati Saran Children’s Hospital,New Delhi, India

S. SharmaDepartment of Pathology, Lady Hardinge Medical College,New Delhi, India

J. Chandra (*)Lady Hardinge Medical College,Lecturer’s Flat no 5,New Delhi 110001, Indiae-mail: jchandra55@gmail.com

Indian J Pediatr (April 2012) 79(4):538–540DOI 10.1007/s12098-011-0550-6

megaly and calcified thrombus in right hepatic veinextending into inferior vena cava (IVC). Liver biopsyrevealed mild lobar inflammation and mild focal sinusoidaldilatation suggesting BCS. Doppler study of abdomen andupper gastrointestinal endoscopy did not reveal any featuresof portal hypertension. Barium meal follow-through dem-onstrated thickening of jejunal loops and jejunization ofileal loops. Prothrombotic work up revealed positive lupusanticoagulant antibodies. Protein C, S and antithrombin IIIlevels were within normal limits. Anticardiolipin, antinuclear antibodies and rheumatoid factor were negative.

Diagnosis of abdominal tuberculosis with chronic BCSwith iron deficiency anemia was considered and patient wasstarted on antitubercular therapy with iron supplementation.(Abdominal tuberculosis was a presumptive diagnosis inview of prolonged fever, mesenteric lymphadenopathy andbarium study findings and was further substantiated byimprovement in fever and appetite and subsidence ofmesenteric lymphadenopathy on antitubercular treatmentat 3 mon follow up). He was also put on warfarinprophylaxis (target INR 2.0–3.0) in view of positive lupusanticoagulant and IVC thrombus to prevent thromboticrecurrence. His anemia, thrombocytosis, hepatosplenome-galy and IVC thrombus persisted for 6 mon but there wasno new thrombus formation. At this point, diagnosis of ETwas considered in view of persistent thrombocytosis, ironrefractory anemia, antiphospholipid antibodies, increasednumber and giant forms of megakaryocytes and venousthrombosis. He was continued on warfarin prophylaxis,however, child did not return for follow up after 8 mon.

Discussion

Essential thrombocytosis (ET) usually presents with persis-tent thrombocytosis (>6 mon duration), splenomegaly, giantdysmorphic platelets, increased number of megakaryocytes(giant megakaryocytes with hyperploid nuclei), derrangedcoagulation profile, increased prevalence of antiphospholi-pid antibodies and thrombo-hemorrhagic complications [1].However, in a given clinical situation, it is extremelydifficult to differentiate between essential and reactivethrombocytosis, as was in the present case. Thrombocytosiswas initially attributed to iron deficiency anemia andabdominal tuberculosis; however, persistence of thrombo-cytosis despite iron supplementation and treatment oftuberculosis gave a clue to essential thrombocytosis.Associated splenomegaly (in absence of portal hyperten-sion), persistent anemia, antiphospholipid antibodies, largevessel thrombosis and no evidence of myelofibrosis ormyelodysplasia further support the diagnosis of ET.Demonstration of acquired JAK2 mutation and absence ofPhiladelphia chromosome could have consolidated the

diagnosis as per Polycythemia Vera Study Group criteria[2]; however, both could not be done due to financialconstraints.

It is important to report that the present patientdeveloped thrombosis with mild thrombocytosis. Earlierstudies suggest that platelet counts do not correlate withthromboembolic complications in ET [3]. This is explainedby significant platelet dysfunction and associated antiphos-pholipid antibodies [3, 4]. Among various antibodies inantiphospholipid antibody syndrome (APLA), lupus anti-coagulant is more strongly associated with thromboticevents [5, 6]. These patients with positive lupus anticoag-ulant and APLA require long term (probably lifelong)anticoagulation therapy, as they are at high risk of recurrentthrombotic complications (52–69% in different studies) [7].

BCS occurs in 1/100,000 of the general population [8].Young children (<10 y of age) account for up to 7% of allcases of BCS [9]. Myeloproliferative disorders have beenreported in 20% of patients with BCS in adults [8],however, pediatric incidence is not known. APLA is oneof the recognized hypercoagulable states that may causeBCS and it was the only identifiable cause in 18.2% caseswith non-neoplastic BCS in an adult case series [10].

The present patient was started on warfarin prophylaxisand he did not have any thrombotic recurrence over 8 monfollow up. The present case is unique as extensive literatureresearch did not reveal any pediatric case report of ET andAPLA presenting as BCS.

Contributions DY, JC: Diagnosis and management of patient,reviewed the literature and drafted the manuscript. SS, VS: Helpedin diagnostic work up and critical review of the manuscript.

Conflict of Interest None.

Role of Funding Source None.

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