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.