Abstract
Budd-Chiari syndrome is a severe disease characterized by occlusion of large hepatic
veins leading to death if untreated. Using the classical criteria for the diagnosis
of polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis
(IMF), overt PV was the underlying cause in about 10% of the cases and ET or IMF in
only a very few. Using spontaneous endogenous erythroid colony (EEC) formation in
vitro and/or bone marrow biopsies, a primary myeloproliferative disorder (PMD) was
present in 78% of the patients with apparently idiopathic Budd-Chiari syndrome and
in about half of the patients with portal, splenic, and/or mesenteric vein thrombosis.
The diagnoses in 40 reported cases with hepatic vein thrombosis and spontaneous EEC
were overt PV in 25 and latent unclassified PMD in 15 patients.
The diagnoses of 40 reported cases with splanchnic vein thrombosis and spontaneous
EEC were overt PV in 12, ET in 2, IMF in 2, and latent unclassified PMD with the presence
of EEC in 24 patients.
Thrombocytosis as a manifestation of myeloproliferative disease was recorded in 34
of 80 (42.5%) patients with spontaneous EEC and Budd-Chiari syndrome or portal vein
thrombosis. Thrombocythemia was present in 15 of 41 patients with a proven and in
19 of 39 patients with a latent myeloproliferative disorder. Patients with hepatic
vein or splanchnic vein thrombosis associated with a PMD are predominantly females
younger than 45.
It is concluded that both spontaneous EEC and histopathology from bone marrow biopsy
provide specific information as sensitive clues to the diagnosis of all variants of
overt and latent myeloproliferative disorders. The association of hepatic and splanchnic
vein thrombosis and PMD is not fully understood.
Therapeutic options of Budd-Chiari syndrome include anticoagulation with heparin,
fibrinolysis followed by oral anticoagulation, and appropriate treatment of the underlying
PMD. In case of failure, invasive options include local procedures such as angioplasty
or stenting, venous decompression by portal-systemic shunts, or liver transplantation.
Keywords:
Hepatic vein thrombosis - splanchnic vein thrombosis - portal vein thrombosis - polycythemia
vera - primary myeloproliferative disorders - endogenous erythroid colonies
