Clinical Case Summary

Background: Typically, patients diagnosed with polycythemia vera (PV) have portal hypertension as a result of splanchnic vein thrombosis. We present a case of patient with PV, presenting with ascites and signs of portal hypertension without evident splanchnic vein thrombosis. Instead, liver biopsy revealed findings consistent with sinusoidal obstruction syndrome. Given the absence of typical causes for SOS and splanchnic vein thrombosis, the question arises: Is the observed sinusoidal obstruction with portal hypertension associated with PV, or are we dealing with the coexistence of two distinct conditions in this particular case?
Case: This case report outlines the diagnostic journey of a 56-year-old female presenting with right upper quadrant pain, abdominal distention, and generalized weakness. Initial evaluation revealed polycythemia alongside abnormal liver function tests and evidence of portal hypertension. As part of her evaluation a CT scan was obtained which demonstrated probable signs indicative of liver cirrhosis. Typical changes associated with portal hypertension were revealed. There were no signs of thrombosis in the splanchnic vessels. An abdominal paracentesis was carried out. The histological examination of hepatic tissue confirmed the diagnosis of sinusoidal obstruction syndrome. Notably, a heterozygous mutation of the JAK2 gene and bone marrow biopsy confirmed the diagnosis of polycythemia vera. This case underscores the challenges of managing multifaceted presentations and highlights the importance of a multidisciplinary approach in achieving accurate diagnosis and tailored treatment strategies.
Conclusion: This case highlights the necessity of performing a liver biopsy to uncover the underlying cause of portal hypertension. Also this case is unique due to absence of well-known causes of sinusoidal obstruction syndrome. Further observations are required to elucidate the association between polycythemia vera and sinusoidal obstruction syndrome.

References

Figure 1 CT Scan of the Abdomen and Pelvis
Figure 2 Histological examination of the hepatic tissue

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