Authors
P Baburaj1, Reshma PK2, Shankar BV3
1Professor, Department of Medicine, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala.
2Senior Resident, Department of Internal Medicine, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala.
3Assistant Professor, Department of Internal Medicine, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala.
Abstract
Background: Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm typically affecting older males. It is a clonal disorder of multipotent hematopoietic stem cells, characterized by marrow fibrosis, extramedullary hematopoiesis, and splenomegaly.
Case Presentation: We present the case of a 34-year-old female who reported with 5 years of fatigue and loss of appetite, and a progressive abdominal lump for 1 year. Physical examination revealed pallor and massive splenomegaly. Blood investigations showed normocytic normochromic anemia (Hb 6.8 g/dL) with teardrop RBCs and a leucoerythroblastic picture. Imaging confirmed massive splenomegaly and revealed osteosclerotic lesions. Bone marrow aspiration resulted in a dry tap, and biopsy showed marrow fibrous tissue. The diagnosis of PMF was further confirmed by a positive JAK2 mutation.
Discussion: The diagnosis of PMF is based on WHO criteria and characteristic bone marrow morphology, with genetic mutations like JAK2 being supportive but not essential. This case is notable due to the patient’s young age, as PMF primarily affects individuals in their sixth decade or later. Management of PMF is largely supportive, focusing on symptoms with agents such as ruxolitinib, hydroxyurea, or splenectomy, while allogeneic stem cell transplantation remains the only curative option.
Conclusion: This case report highlights an atypical presentation of primary myelofibrosis in a young female, underscoring the importance of considering PMF even in younger patients presenting with unexplained anemia and significant splenomegaly.