Status of Vascular Involvement in Egyptian Patients with Budd-Chiari Syndrome: Relation to Etiology and Impact on Clinical Presentation

Abstract

The current work was designed to study the pattern of vascular involvement in Egyptian patients with Budd Chiari Syndrome. Also to demonstrate its relation to etiology and impact on clinical presentation in these patients. To fulfill such purpose, we studied 100 patients with confirmed BCS. All patients were subjected to detailedhistory taking, clinical examination, radiological assessment with duplex U/S, MRV or multislice CT scan, and laboratory investigations including: liver profile tests, kidney function tests, complete blood picture, and thrombophilia work up. In the current study, forty three patients (43%) were males and fifty seven (57%) were females. Mean age of the studiedpatients at first visit was 27.24±7.64 years. Most of the patients in our study were diagnosed during the chronic phase of the disease (66%), the rest of patients were diagnosed during acute (16%) and fulminant (18%) stages. In the current study, it was found that the relevant symptoms in 100 patients with BCS at the time of diagnosis were abdominal enlargement in 90%, abdominal pain in 80%, arthralgia in 80%, and bouts of encephalopathy in 23% of patients. As regards the signs, hepatomegaly was present in 85% and the liver was tender in 49%. Ascites was evident in 80%, splenomegaly in 62%, lower limb oedema in 59%, jaundice in 43% and dilated veins over the trunk and body in 30% of the cases. Regarding the pattern of vascular involvement in the current series we found isolated HVs obstruction in 43%, isolated IVC obstruction in 4%, combined HVO and IVC stenosis in 12%, combined HVO and IVC webs in 9%, and finally combined HVO and IVC compression in 32% of cases. Ascites was present in 84% of the studied cases as an ultrasonographic finding, while caudate lobe enlargement was present in 46% of the patients. In the current study we identified that 74% had occlusion in all three hepatic veins (right, middle, and left), 18% had occlusion in two veins, and 4% had single HV vein involvement. Only 4% of patients showed all 3 hepatic veins patent, but the IVC was occluded in these 4 cases. Regarding the impact of the pattern of vascular involvement on the clinical presentation of BCS patients, we have tried to find any correlation between the Clinical presentations and the pattern of vascular involvement specially HV’s involvement in BCS. There was a statistically significant association between arthralgia and the Hepatic veins (either occluded or patent), also between ascites and the two groups of patients. On comparison between the groups with different number of occluded hepatic veins, residency, abdominal pain, GIT bleeding, as well as splenomegaly were of statistical significance. In the current study, it was shown that the most common etiology in the group with occluded hepatic veins was deficiency in protein C (43.8%), followed by protein S deficiency (40.7%). When comparing the 3 groups of patients with occluded hepatic veins, it was shown that in the first study group with single occluded hepatic vein, the most common etiology is the antiphospholipid syndrome, being present in 75% of cases, confirmed by positive ACL IgG and IgM, followed by protein C and ATIII deficiency as the second most common cause in this study group. In the second study group with two occluded hepatic veins, the most common etiological cause was Protein S deficiency, being present in 50% of the cases, followed bymyelo-proliferative disorder, confirmed by positive JAK2 mutation present in 38.9% of cases in this group, followed by Systemic lupus erythematosus, being present in 33.3% of cases, confirmed by ANA and Anti DNA tests being positive in these cases. In the third group with three occluded hepatic veins, the most common etiology is Protein C deficiency, being present in 45.9% of the cases, followed by myelo-proliferative disorders, being present in 40.5% of the cases in this study group. On further analysis of the relation between the etiology and the vascular involvement in patients with BCS, it was shown that in the group with isolated HVO with patent PV, the most common etiologies were SLE, Protein S deficiency, and FVLM, and in the group with HVO and PVT, the most common etiologies were SLE, Protein S deficiency, and FVLM. In the group with HVO and IVC stenosis/web with patent PV, the most common etiology was Protein C deficiency, followed by MPD. In the patient with HVO + IVC stenosis/web + PVT, the most common etiologies were SLE, Protein S deficiency and MPD. In the group with HVO + IVC compression with patent PV, the most common etiology was antiphospholipid antibody disorder, followed by SLE and AT3 deficiency. On the other hand, the group with HVO + IVC compression + PVT, the most common etiology was protein C deficiency, followed by Protein S deficiency, AT3 deficiency, and MPD. Lastly, in the patients with isolated IVC thrombosis with patent PV, the most common etiology was Behcet disease and antiphospholipid antibody disorder, while in the patient with IVC thrombosis + PVT, Behcet disease and AT3 deficiency, as well as MPD, were present as etiologies in the case studied.