Dr. Ayesha Warsi

Patients may experience bone pain due to changes occurring in the bone marrow.

Consider symptoms related to the cytopenias present.

Anemia due to bone marrow failure can cause pallor, weakness, shortness of breath on exertion, and dizziness with standing.

Thrombocytopenia or dysfunctional platelets can result in easy bruising and other bleeding manifestations such as nosebleeds, gun bleeding, and prolonged bleeding from minor injuries.

Leukopenia or dysfunctional white blood cells can impair immune function, resulting in frequent infections.

Thrombotic events occur at a higher incidence in primary myelofibrosis, so ask about a prior history of venous and arterial thrombosis.

Consider a review of the systems to screen for symptoms related to hepatosplenomegaly or other sites of extramedullary hematopoiesis.

On physical examination, focus on the consequences of the systemic symptoms and cytopenias.

Patients may present pale due to anemia, cachectic due to unintentional weight loss, and appear tired or frail.

Anemia can drive tachycardia, and you may find pallor of the skin, conjunctiva, and oral mucosa, and findings such as coelonychia, thin and concave-shaped nails.

In the context of thrombocytopenia and platelet dysfunction, look for any evidence of bleeding, petechiae, purpura, or ecchymosis.

An abdominal examination is essential to assess for hepatosplenomegaly.

To complete the exam, a thoracardiac, respiratory, abdominal, and neurological examination for findings related to extramedullary hematopoiesis should also be performed.

When it comes to primary myelofibrosis, and many hematological disorders for that matter, the laboratory and pathology findings are key to nailing the diagnosis.

Of course, start with a CBC and differential.

As you recall, the early stage of myelofibrosis is hyperproliferation,

and so you may see leukocytosis or thrombocytosis.

In later stages of primary myelofibrosis, as the bone marrow is fibrotic and begins to fail, you may see anemia, leukopenia, and or thrombocytopenia.

Additional labs you want to order include a hemolysis workup consisting of reticulocytes, lactate dehydrogenase, bilirubin, and haptoglobin levels.

Hemolysis may be present secondary to splenomegaly or alternative hematologic disorders that can mimic myelofibrosis.