MYELOFIBROSIS

SYMPTOMS

The symptoms of myelofibrosis can vary widely among affected individuals but may include:

• Fatigue: Persistent fatigue or weakness due to anemia and reduced oxygen-carrying capacity of the blood.
• Splenomegaly: Enlargement of the spleen (splenomegaly), which may cause abdominal discomfort, early satiety, or a feeling of fullness in the upper abdomen.
• Bone Pain: Aching or discomfort in the bones, particularly the back, ribs, and long bones, due to increased bone marrow activity and fibrosis.
• Easy Bruising and Bleeding: Increased risk of bruising, bleeding, or petechiae (small red or purple spots on the skin) due to thrombocytopenia and impaired platelet function.

DIAGNOSIS

Diagnosing myelofibrosis involves a combination of clinical evaluation, laboratory tests, imaging studies, and bone marrow biopsy. Diagnostic steps may include:

• Complete Blood Count (CBC): Blood tests to assess for abnormalities in red blood cells, white blood cells, and platelets, including anemia, leukocytosis, or thrombocytopenia.
• Bone Marrow Biopsy: Collection of a bone marrow sample for examination under a microscope to assess for the presence of fibrosis, abnormal cell morphology, or genetic mutations associated with myelofibrosis.
• Imaging Studies: Imaging modalities such as ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI) may be used to evaluate for splenomegaly, lymphadenopathy, or other signs of disease involvement.

TREATMENT

Treatment of myelofibrosis aims to alleviate symptoms, reduce complications, and improve quality of life. Treatment options may include:

• Supportive Care: Management of anemia with blood transfusions, erythropoiesis-stimulating agents (ESAs), or iron supplementation to improve hemoglobin levels and reduce fatigue.
• Pharmacological Therapy: Use of medications such as Janus kinase (JAK) inhibitors (e.g., ruxolitinib) to reduce spleen size, improve symptoms, and delay disease progression in symptomatic patients with intermediate- or high-risk disease.
• Stem Cell Transplantation: Allogeneic hematopoietic stem cell transplantation (HSCT) may be considered for eligible patients with advanced disease or poor prognostic features to achieve disease remission and prolong survival.
• Splenectomy: Surgical removal of the spleen (splenectomy) may be necessary for patients with massive splenomegaly or symptomatic splenic complications refractory to medical therapy.