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Q1: What is the syndrome presented by this patient?
Budd-Chiari syndrome (BCS).
Q2: What is the underlying disease?
Latent myeloproliferative disorder (polycythaemia vera).
Because of clinical evidence of portal hypertension (splenomegaly, oesophageal varices), we considered the possibility of BCS. Ludwiget al suggested the following definition for BCS: “hepatic venous outflow obstruction and its manifestations, regardless of cause, the obstruction being either within the liver or the inferior vena cava between the liver and the right atrium”.1
A colour Doppler sonogram was obtained and confirmed the diagnosis: the major hepatic veins were not seen and an enlarged subhepatic accessory vein was draining a hypertrophic caudate lobe. Colour Doppler sonography is increasingly being used for the diagnosis of BCS, and it provides a safe and accurate alternative to liver biopsy.2Magnetic resonance angiography gives similar information and may be of value when diagnosis is not clear after sonographic examination.3
There are a large number of known causes of BCS: thrombogenic conditions (coagulopathy, myeloproliferative disease, etc), malignant tumours, or membranous obstruction of the inferior vena cava.4 Sonography and magnetic resonance angiography excluded a tumour or a membranous obstruction of the inferior vena cava. For this patient, standard laboratory data were normal, except a sideropenia which may result from an occult oesophageal varices bleeding. Although oesophageal varices characteristically produce acute severe haemorrhage, it can unusually cause an occult bleeding and lead to iron deficiency anaemia.5
Using conventional criteria, the diagnosis should have been an idiopathic BCS. When cultures of bone marrow and peripheral blood mononuclear cells were grown using the method described by Mc Leod et al, we observed that spontaneous erythroid colonies developed without addition of erythropoietin.6 This result is specific for primary myeloproliferative syndrome,7 which is believed to be the second cause of BCS after malignant tumours. Polycythaemia vera is rare before the age of 40, accounting for fewer than 5% of the cases.8 This patient presents similarities with those reported by Valla et al; the absence of peripheral blood anomalies typical of myeloproliferative disorder could be explain by the portal hypertension.7 So, the mechanism of vein thrombosis could be related to platelet dysfunction without increased blood viscosity.9 The exact nature of the dysfunction is at the present time unknown.
Budd-Chiari syndrome with latent myeloproliferative disorder (polycythaemia vera).
Budd-Chiari syndrome (BCS) can be diagnosed by ultrasound Doppler colour sonography and magnetic resonance imaging
Myeloproliferative disorder is a common cause of BCS
Search for a latent myeloproliferative disorder by means of spontaneous erythroid colony formation in bone marrow culture should be done when BCS occurs without other recognisable causes, even when there are no peripheral blood changes