Case History and Examination:
A 31-year-old male with a history of Addison’s and on hydrocortisone 20mg presented to the outpatient department with complaints of abdominal pain and abdominal distension since 3 months. He complained of a sudden, dull aching pain in the right upper quadrant, which radiated to his back. Abdominal distension had an insidious onset, gradually progressive to involve bilateral lower limbs, aggravated after food and water intake was relieved on medications and rest.
The patient had no similar complaints in the past. There were no similar complaints in the family. A physical examination showed signs of pallor, icterus, clubbing, and pedal edema, and Hyperkeratosis of the palm (figure 1). Abdominal examination revealed a uniformly distended abdomen with shifting dullness. Vital signs were documented as Blood pressure (BP) at 100/80 mmHg, oxygen saturation (SpO2) at 98%, and a heart rate (HR) of 75 beats per minute. Following the initial examination, the patient was admitted for further investigations and treatment.
Differential diagnosis, investigations and treatment :
Initial hematological investigations revealed microcytic hypochromic anemia with an elevated WBC with a predominance of neutrophils. The liver function tests (LFT) revealed markedly elevated liver enzymes, demonstrating a more than tenfold increase in transaminase levels. Brief laboratory values are given in (Table 1). With a suspected diagnosis of Budd Chiari Syndrome, an ultrasound of the abdomen and pelvis with hepatoportal Doppler study was conducted, which revealed a normal-sized (12.7cm) liver, showing raised echogenicity and coarsened echotexture with surface irregularity. The intra-hepatic segment of the inferior vena cava (IVC) displayed narrowing, and none of the three hepatic veins exhibited color intake, indicating ascites and suggestive of cirrhotic liver disease with Budd-Chiari syndrome.
A computed tomography (CT) scan of the abdomen revealed heterogeneous attenuation in the hepatic parenchyma, measuring approximately 10 cm in maximum craniocaudal length. Additionally, it showed hypertrophy in the left lobe of the liver, an enlarged caudate lobe thickness of 38.4 mm, and non-distinct visualization of the hepatic veins and their branches. Thinning of the IVC was observed, highlighting features indicative of Budd-Chiari syndrome.
This confirmed the diagnosis of cirrhotic liver disease with Budd-Chiari syndrome, along with obstruction at the level of the hepatic veins. During the investigation to identify underlying thrombophilic conditions, tests were performed to assess protein C functional activity, antithrombin activity, free protein S antigen levels, and the presence of the factor V Leiden mutation. The results indicated a notable reduction in protein C functional activity at 26%, a decrease in antithrombin activity at 32.5%, and a lowered level of free protein S antigen at 47.10%. Importantly, the factor V Leiden mutation was not detected. Based on these findings, a diagnosis of chronic Budd-Chiari Syndrome (BCS) was established. The screening Upper Gastrointestinal (GI) endoscopy revealed three columns of large esophageal varices with mild Portal Hypertensive Gastropathy (PHG), for which esophageal variceal ligation was performed.
During the patient’s hospitalization, the treatment plan included the administration of low molecular weight heparin (LMWH) alongside oral anticoagulants. Given the complete occlusion of all hepatic veins and the limited success rates associated with a Transjugular Intrahepatic Portosystemic Shunt (TIPS) in such cases, the decision was made to pursue a Direct Intrahepatic Portosystemic Shunt (DIPS) procedure. However, logistical constraints precluded the execution of this intervention.
As a result, the patient was managed conservatively with Vitamin K antagonists, with regular monitoring of Prothrombin Time (PT) and International Normalized Ratio (INR). Additional supportive measures included a low-sodium, high-protein diet and diuretic therapy to manage ascites. After one week of hospitalization, the patient was discharged with a treatment plan comprising Vitamin K antagonists, diuretics, and antibiotics. Laboratory values recorded at the time of discharge are summarized in Table 1.