Case Presentation

A 64-year-old woman presented to her primary care physician with a subacute history of worsening diffuse abdominal pain with intermittent bilious vomiting and non-bloody diarrhea, with no aggravating and alleviating factors. Her past medical history was notable for class III obesity (body mass index 47.1 kg/m2), hypertension, anxiety, and hypothyroidism (on levothyroxine). She had no personal or family history of liver disease, obstructive sleep apnea, myeloproliferative disease, gallbladder cancer, or other malignancy. She reported no alcohol use, tobacco use, recent herbal supplement or mushroom ingestions, medication changes, intravenous drug use, recent travel, illnesses, or sick contacts. Evaluation in the PCP’s office was notable for hypovolemia attributed to poor oral intake and she was sent to the emergency department for fluid resuscitation.

On initial ER evaluation, she had diffuse abdominal tenderness, a dusky-appearing right hand, and a diminished radial pulse. Initial laboratory studies revealed erythrocytosis (hemoglobin 19.8 g/dL) and abnormal liver chemistries (aspartate aminotransferase [AST] 1,280 U/dL, alanine aminotransferase [ALT] 1,750 U/dL, alkaline phosphatase 225 U/dL, total bilirubin 4.5 mg/dL, the international normalized ratio [INR] 1.88). She also had leukocytosis (white blood cell 28.5 x 103/uL) and concomitant acute kidney injury with serum creatinine 1.9 mg/dL from a baseline of 0.9 mg/dL. She was admitted for sepsis complicated by acute liver injury and started on IV fluids and broad-spectrum antibiotics. Blood and urine cultures were negative, as were serologies for acute viral hepatitis. A mildly elevated anti-nuclear (ANA) antibody titer (1:80) was noted. In the setting of new erythrocytosis, she was found to have elevated serum erythropoietin of 64 mU/mL (reference range: 2.6-18.5 mU/mL). Abdominal ultrasound with doppler revealed diminished flow in the main and right portal veins, perihepatic ascites, and curvilinear calcification noted along the gallbladder fossa, suggestive of porcelain gallbladder. Non-contrast abdominal magnetic resonance imaging (MRI) showed caudate lobe prominence but no obvious hepatic vein thrombosis. Given the concern for polycythemia vera with Budd-Chiari syndrome, therapeutic phlebotomy and contrast-enhanced computed tomography were planned.

Unfortunately, the patient developed acute liver failure, disseminated intravascular coagulation, pulmonary hemothorax, and refractory septic shock over the next five days. The patient ultimately died from multisystem organ failure. On autopsy, she had multiple thromboembolic complications noted including pulmonary artery and hepatic venous thrombosis with intrahepatic venous extension. Additionally, an arterial and venous duplex ultrasound of her right extremity revealed an occlusive thrombus of the superficial basilic and cephalic veins. Histology revealed evidence of hepatocellular necrosis, gallbladder adenocarcinoma with calculous cholecystitis, and empyema. Bone marrow biopsy with JAK2 genetic testing was sent due to clinical suspicion of polycythemia vera-associated hepatic vein thrombosis, revealing a V617F point mutation.

References

  1. Grus T, Lambert L, Grusová G, et al. Budd-Chiari Syndrome. Prague Med Rep. 2017;118(2-3):69-80. doi:10.14712/23362936.2017.6.
  2. Lu X, Chang R. Polycythemia Vera. In: StatPearls. StatPearls Publishing; 2022. http://www.ncbi.nlm.nih.gov/books/NBK557660. Accessed December 15, 2022.
  3. Valla DC. Primary Budd-Chiari syndrome. J Hepatol. 2009;50(1):195-203. doi:10.1016/j.jhep.2008.10.007.
  4. Singh BP, Khan WF, Rathore YS, et al. Incidental Carcinoma Gallbladder: Incidence, risk factors, and factors affecting survival—5-Year experience from a tertiary care institute. J Gastrointest Cancer. 2020;51(3):980-987. doi:10.1007/s12029-019-00347-1.
  5. Samad F, Ruf W. Inflammation, obesity, and thrombosis. Blood. 2013;122(20):3415-3422. doi:10.1182/blood-2013-05-427708.

Issue

Topic

Clinical Practice, Hospital-based Medicine, Medical Education, Medical Ethics, Research, SGIM

Author Descriptions

Ms. Varma (tanvee.varma@yale.edu) is a fourth-year medical student at the Yale School of Medicine. Dr. Ilagan-Ying (ysabel.ilagan-ying@yale.edu) is a third-year internal medicine resident at Yale New Haven Hospital. Dr. Do (albert.do@yale.edu) is an assistant professor at of Digestive Diseases at the Yale School of Medicine and clinical director of the Yale Fatty Liver Disease Program. Dr. Xu (jin.xu@yale.edu) is an assistant professor of internal medicine at the Yale School of Medicine and an attending physician at the Veterans Affairs (VA) Connecticut Healthcare System in West Haven

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