Chronic Myeloproliferative Diseases: Types and Symptoms

Chronic Myeloproliferative disorders are a heterogeneous group of disorders characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood. The peripheral smear shows either leukoerythroblastosis or giant platelets in a patient with myelofibrosis.

Chronic Myeloproliferative Disorder Types

1. Polycythemia vera
2. Chronic myelogenous leukemia
3. Essential thrombasthenia
4. Primary myelofibrosis

Polycythemia Vera

The criteria for diagnosis of polycythemia Vera are divided into major and minor criteria.

Major Criteria

• Increase in hemoglobin.
• In males > 16.5g and in females > 16g.
• JAK mutation

Minor Criteria

• Erythropoietin levels are normal or suboptimal
• It occurs mainly at high altitudes or among chronic smokers because they have hypoxia which causes an increase in the production of Erythropoietin and hence RBC production increases.

Clinical Features

• Increase in RBC count- The patient will experience episodes of hyperviscosity and will present with a red plethoric face, headaches, hypertension, and vision disturbances.
• Thrombotic episodes will be present. Budd Chiari syndrome can occur which is a manifestation of hepatic vein thrombosis. The most dangerous manifestation of thrombotic episodes is cerebral vein thrombosis.
• Increase in WBC count. A condition called aquagenic pruritus occurs when the patient is taking a hot water bath which causes mast cell degranulation and histamine is released. This is due to an increase in the count of mast cells and basophils. There will be intense itching after the shower.
• The increased number of platelets when moving through the tiny capillaries of fingers or toes start aggregating and cause a burning sensation in hands and feet. This condition is called erythromelalgia.
• The treatment includes phlebotomy, hydroxyurea or ruxotilinib.

Also Read: Acute Myelogenous Leukaemia: Causes, Symptoms, Risk Factors, Diagnosis and Treatment

Essential Thrombasthenia

Major Criteria for Diagnosis

• The patient has a platelet count of more than 4.5 lakhs/mm3. 
• Hyperlobated megakaryocyte or staghorn megakaryocyte.
• BCR-ABL negative

Minor Criteria for Diagnosis

• Reactive thrombocytosis due to infection should be ruled out
• All four major criteria or three major plus minor criteria should be present.
• The most important clinical feature is erythromelalgia which is a burning and throbbing sensation in hands and feet. 
• Other symptoms like Bleeding and thrombosis will be present.

Also Read: Nonalcoholic Fatty Liver Disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and Complications

                                         Staghorn Megakaryocyte

Primary Myelofibrosis

• It is a megakaryocyte defect in which bone marrow fibrosis occurs.
• The Megakaryocytes release a lot of mediators like platelet-derived growth factor, fibroblast growth factor, and TGF beta which causes fibrosis.
• The most common fibrogenic cytokine is TGF beta and dry tap will be observed in bone marrow.
• Teardrop RBC or dacrocytes will be seen.
• Leukoerythroblastic picture is the main presentation feature.
• On histopathology with the Hepatitis, black fibers will appear.
• Splenomegaly is observed in many patients with primary myelofibrosis.

Also Read: Cutaneous T-cell Lymphoma: Causes, Symptoms, Diagnosis and Treatment

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