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A 37-year-old man complained of a 7 months’ history of yellowish skin and sclera accompanied by fatigue, pruritus and dry mouth, with a history of subcutaneous masses on his elbow. Hard and fixed subcutaneous masses were noted on his palm and periauricular region, the largest of which was approximately 2 cm in diameter (figure 1A). Mildly tortuous veins on his abdominal wall above the umbilicus were detected (figure 1B). The patient had no history of liver disease. Family history was not contributory. Laboratory tests demonstrated a leucocyte count of 2.9×109/L (3.97–9.15×109/L), 7.9% eosinophil (0.5%–5%), a total bilirubin of 94.5μmol/L, gamma-glutamyl transpeptidase of 67.8 U/L (11–50 U/L) and serum IgG of 23.3 g/L (7–16 g/L), IgG4 of 3.48 g/L (0.08–1.4 g/L) and IgE of 256 IU/mL (0–100 IU/mL). Coagulation function tests revealed prothrombin time of 14.8 s (9.4–12.5 s), international normalised ratio (INR) of 1.33 and D-dimer of 0.14 mg/L (＜0.5 mg/L). Other laboratory tests included a normal blood urea nitrogen and creatinine; perinuclear anti-neutrophil cytoplasmic antibody (pANCA) and anticardiolipin antibody (ACA) were negative. Contrast-enhanced CT of the abdomen revealed diminished endoluminal enhancement of the right and middle hepatic veins with patchy alterations in the parenchymal perfusion, as well as signs of portal hypertension (figure 1C,D).
What is the possible diagnosis?
Biopsy of the subcutaneous masses revealed typical histological features of Kimura disease (KD) with marked proliferation of lymphocytes and eosinophilic abscess; proliferated vessels were lined with hobnailed endothelial cells surrounded by abundant eosinophils (figure 2A,B). A liver biopsy demonstrated marked sinusoidal dilatation and congestion accompanied by hepatocytes. Diffuse perisinusoidal fibrosis and obliteration of hepatic veins were found. Vessels were short shunted from fibrous septa and proliferated into the hepatic parenchyma. Mild inflammation and IgG4-positive plasma cells were occasionally noted (<10/high power field) (figure 2C–F).
The patient was diagnosed with Budd-Chiari syndrome (BCS) associated with KD. KD, clinically characterised by a triad of painless subcutaneous masses, elevated serum IgE and peripheral eosinophilia, can cause hypercoagulation and thrombosis.1 2 In this case, the BCS is likely related to the hypercoagulable status of KD. Although serum IgG and IgG4 were increased, immunohistochemical staining disclosed only a few IgG4-positive plasma cells in the liver, and the ratio of IgG4 to IgG plasma cells was no more than 40%, which ruled out the IgG4-related hepatobiliary disease.3
Our patient was treated with immunosuppressive drugs for specific treatment of KD and also anticoagulant therapy (low molecular weight heparin, 0.4 mL/d) for BCS. Both serum IgE and eosinophils returned to normal range during follow-up.
We thank Professor M Eric Gershwin for language assistance and Dr Jia-Chang Chi for radiological assistance. We thank Dr Mei Wu, Dr Kun Liu and Dr Xue-Hua Sun from Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine for their referral and trust.
Contributors ZL drafted the manuscript. QM and XC contributed to the description of histopathological features. PJ and XX provided clinical suggestions. QW and XM critically revised the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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