A 24-year-old female presented to her internist with a four-month history of abdominal distension, adynamia and edema. Her doctor initially prescribed diuretics, and when this led to no improvement in her symptoms he performed some tests to investigate gynecological and gastrointestinal malignancies and tuberculosis. Results were inconclusive and she was referred to our clinic for further evaluation.
Her past history was significant for Cesarean section two years previously and weight loss of 25 kg in two months. Her mother was nefrectomized and had been treated for six months for tuberculosis in her childhood. She denied any current or past alcohol, tobacco and drug use, except for furosemide. Her physical examination was significant for a cachectic woman; the liver edge was nonpalpable, spleen was nonpalpable but percussable, abdomen was distended by tense ascites, and edema of both lower extremities to the knee and of abdominal collaterals were noted. Workup at the clinic included negative hepatitis A, B, and C viral serologies and negative autoimmune markers. Routine laboratory studies showed Hb and Hct 10.4g/dl and 35.5%, respectively; white blood cell 4,500/mm3, platelet count 159,000/mm3, MCV 74fL, erythrocyte sedimentation rate 36 mm/h, prothrombin time 24 seconds, INR 2.26, glucose 90 mg/dl, total bilirubin 3.22 mg/dl, alanine aminotransferase 149 U/L, aspartate aminotransferase 228 U/L, albumin 3 g/dl, g-g-globulin 1.3 g/dl, serum iron 22 mcg/dl, transferrin iron binding capacity 314 mcg/dl, ferritin 4.9 mcg/L, Ca 7.1 mg/dl, P 1.5 mg/dl, Na 133 IU/L, and K 3.2 IU/L. An a-fetoprotein level was 2.8 ng/ml. Analysis of ascitic fluid showed uncomplicated portal hypertensive ascites with total protein 1.6 g/dl, albumin 1 g/dl, glucose 101 mg/dl, LDH 162 U/L, cholesterol 23 mg/dl, WBC 180/mm3, and serum-ascites albumin gradient of 2.0 g.
Imaging studies included computerized tomography (CT) and Doppler ultrasonography; hepatic venography followed. These studies showed an enlarged caudate lobe with surrounding underperfused parenchyma, absence of blood flow in hepatic veins, narrow occluded veins, and adjacent veins with tortuous lace-like spider web pattern (Figure 1). Splenomegaly was seen. Upper gastrointestinal endoscopy evidenced grade III esophageal varices and duodenal mucosal edema. Mucosal forceps biopsies showed absence of villi and hyperplastic crypts with intraepithelial lymphocytic infiltration (Figure 2). IgA antiendomysial antibodies were detected.
On microscopical evaluation of the stool, fatty acid, starch and muscle fiber were observed. A peripheral blood smear showed no alterations in cell morphology except for iron deficiency. Laboratory analysis to detect etiology of Budd-Chiari syndrome (myeloproliferative disease; antithrombin III, protein S and C deficiency; lupus anticoagulant; anticoagulant activated protein C-factor V Leiden; Behcet’s disease; hyperhomocysteinemia) was unrevealing.
Strict gluten-free diet and treatment with spironolactone and furosemide were started. Iron, minerals and vitamins were replaced. She had symptomatic improvement within two weeks after starting a gluten-free diet. Three months after discharge from hospital, she was admitted to emergency service with complaints of spontaneous rupture of umbilical hernia and abdominal pain. Ascites infection was diagnosed, and she died of septic shock and renal failure.
Figure 1: Absence of blood flow in hepatic veins, narrow occluded veins, adjacent with tortuous lace-like spider web pattern
Figure 2: Absence of villi and hyperplastic crypts with intraepithelial lymhocytic infiltration of the smal intestinal mucosa (HE, 125x).