Case Report of Hepatic Sinusoidal Obstruction Syndrome Complicated with Myeloproliferative Neoplasm and Focal Segmental Glomerulosclerosis

Introduction: A 19-year-old male presented with a 6-month history of recurrent ascites and lower limb edema, prompting a detailed diagnostic evaluation at our hospital. Case Presentation: The patient displayed a ruddy complexion, deepening pigmentation in the limbs and abdomen, visible re...

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Bibliographic Details
Main Authors: Yuxuan Song, Yajing Zhen, Hui Ma, Bo Feng, Yandi Xie
Format: Article
Language:English
Published: Karger Publishers 2025-07-01
Series:Case Reports in Gastroenterology
Online Access:https://karger.com/article/doi/10.1159/000546801
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Summary:Introduction: A 19-year-old male presented with a 6-month history of recurrent ascites and lower limb edema, prompting a detailed diagnostic evaluation at our hospital. Case Presentation: The patient displayed a ruddy complexion, deepening pigmentation in the limbs and abdomen, visible reticular skin pattern changes, and pronounced abdominal striae. Diagnostic investigations included a renal biopsy, which confirmed focal segmental glomerulosclerosis, and an abdominal enhanced CT scan, suggesting hepatic sinusoidal obstruction syndrome. Hematological tests revealed elevated white blood cell count (19.73 × 109/L), hemoglobin level (183 g/L), and platelet count (395 × 109/L). Bone marrow morphology indicated proliferation of red blood cells, white blood cells, and platelets, suspicious for myeloproliferative neoplasm. PCR testing confirmed the presence of the JAK2 V617F mutation, leading to a diagnosis of polycythemia vera. The patient was administered a comprehensive treatment regimen consisting of methylprednisolone, telmisartan, rivaroxaban, furosemide, and spironolactone. This therapeutic approach led to a decrease in the patient’s weight and 24-h urinary protein, along with a significant reduction in pleural and abdominal effusions. Conclusion: This case underscores the significance of a meticulous diagnostic process in uncovering multiple concurrent severe pathologies presenting with nonspecific symptoms. It also highlights the importance of a targeted treatment strategy to achieve clinical improvement. The successful management of this patient’s complex case illustrates the value of a multidisciplinary approach in addressing polycythemia vera, hepatic sinusoidal obstruction syndrome, and focal segmental glomerulosclerosis.
ISSN:1662-0631