Myeloproliferative Neoplasms: Types, Symptoms, Diagnosis, and Treatment Explained

Introduction Myeloproliferative Neoplasms

Myeloproliferative Neoplasms (MPNs) are a group of condition arising from BM stem cells and characterized by clonal proliferation of one or more hemopoitic components, resulting in an increase in the peripheral blood white blood cells (WBCs), red blood cells (RBCs), platelets, or a combination of these cells.  Myeloproliferative neoplams have different chances of acute leukemia transformation. The type of disorder is often based on the predominant cell line that is affected, but blood counts are often abnormal in more than one cell line.

Types of Myeloproliferative Neoplasms

•  Chronic Myeloid Leukemia (CML)    

•  Polycythaemia Vera (PV)

•  Essential Thrombocythemia (ET)               

•  Primary Myelofibrosis (PMF)

1. Polycythaemia Vera (PV):

 A type of blood cancer (myeloproliferative disorder). Polycytemia Vera is a disease of bone marrow and bone marrow is a space inside our hip bone and back bones. Polycythemia Vera causes increased production of red blood cells in the bone marrow. The clinical features and symptoms of polycythemia Vera are it causes headache, tingling numbness over the limbs, joint pain, it can cause blood clot formation in the critical areas like brain, heart, and lungs. Polycythaemia Vera is a clonal stem cell disorder characterized by increased red cell production.  A neoplastic stem cell disorder possessing a JAK-2 mutation in 97% of cases which leads to excessive production of all myeloid cell lines, but predominantly red cells. The increase in whole blood viscosity causes vascular occlusion and ischemia.

Clinical features of polycythemia Vera

Age: 55-60 years. May occur in young adults and rare in childhood. Clinical Features: Majority patient features are due to hyperviscosity, and vascular complications thrombosis, Hypertension, Headache, poor vision and dizziness, and splenomegaly in 75% of patients.

Haw to diagnosis polycythemia Vera

CBC is the most common test that showed hemoglobin more than 16.5 in males and females.  Hb, PCV (HCT), and Red cell mass increased

• Increased neutrophils and platelets

• Plasma uric acid is high

• Hypercellular bone marrow with trilineage over activity

• Rouleux formation is a common finding in PV

• Low serum erythropoietin

•  JAK2 mutation is positive

Treatment of polycythemia Vera

• Removing blood at regular intervals

• Medication to lower blood cell formation

• Prevention of blood clots

2.  Primary Myelofibrosis:

Primary myelofibrosis is one of the myeloproliferative disorder (CML polycythemia Vera, essential thrombocythemia). Characterized by bone marrow fibrosis, anemia, extramedullary hematopoiesis, and leukoerythroblastosis. Leukoerythroblastosis(tear drops, nucleated RBCs and early myeloid progenitors (including blasts) are often seen in the peripheral blood, the disorder begins with leukocytosis but ends with leucopenia.

3. Essential thrombocythemia:

Clonal myeloproliferative disease of megakaryocytic lineage. In this condition there is sustained increase in the platelets count due to megakaryocyte proliferation and overproduction of platelets. Platelet count >450 x 10³/micro L. JAK 2   mutation in approximately 60% of patients. Clinical features:  Hemorrhage (abnormal platelets function), Thrombosis (venous or arterial), and Splenomegaly. Treatment: Anticoagulant and Chemotherapy.

4. Chronic Myeloid Leukemia (CML):

A myeloproliferative disorder presenting with increased granulocytic cell line proliferation, cells still have ability to differentiate. in CML, the bone marrow makes abnormal granulocytes (a type of white blood cell). It is rare in children.  Most people with CML have a genetic change called the Philadelphia chromosome. It’s called that because researchers in Philadelphia discovered it. Sometimes CML does not cause symptoms, they can include: feeling very tired, weight loss for no known reason, drenching night sweats, fever, and pain or a feeling of fullness below the ribs on the left side.

Conclusion

Myeloproliferative neoplasms are chronic blood disorders caused by gene mutations that lead to overproduction of blood cells. They can cause complications like blood clots or progress to leukemia. Early diagnosis and targeted treatments such as JAK inhibitors help improve patient outcomes.