Myelophthisic Anemia: Causes, Symptoms, Diagnosis, and Treatment

What Is Anemia?

Anemia can be defined as a blood-related disorder characterized by the reduction in the following:

1. Red blood cell count.

2. Hemoglobin content.

3. Packed cell volume.

This reduction occurs because of the decrease in the production of red blood cells, increased destruction of red blood cells, and excess blood loss. All these incidents are caused by inherited disorders, environmental factors, malnutrition, infections, and exposure to drugs or toxins.

What Is Bone Marrow?

Bone marrow is spongy tissue present in the long bones of the body and conducts the process of hemopoiesis (production of blood cells and their components). Bone marrow is a place where the blood cells proliferate and mature, then they are transmitted into the bloodstream, and it is of two types yellow and red. Therefore, defects in bone marrow can lead to blood and immunological disorders.

What Is Myelophthisic Anemia?

Myelophthisic anemia is a normochromic and normocytic (normal color and normal size of the red blood cells) type of anemia. It can be characterized by the presence of immature and defective red blood cells (erythrocytes) in the peripheral blood due to the infiltration of non-hematopoietic or abnormal cells in the bone marrow or fibrosis of the bone marrow, which crowds the normal healthy cells to proliferate and gets mature. Myelophthisic anemia is a hypo-proliferative type of anemia that includes insufficient production of red blood cells. It is a different type of anemia because the count of reticulocytes is higher than the count of reticulocytes in other types of anemia.

What Are the Causes of Myelophthisic Anemia?

Myelophthisic anemia is caused due to infiltration of the abnormal or non-hematopoietic stem cells in the bone marrow, leading to defective and insufficient production of red blood cells.

The following are the causes of the infiltration of the bone marrow with abnormal cells.

1. Tumor Cells- Any neoplastic condition affecting an individual can leads to the infiltration of the neoplastic cells in the bone marrow and cause a reduction in the production of red blood cells. For example - breast cancer cells, prostate cancer cells, leukemia cells, and other hematological-related malignancies.

2. Inflammatory Cells- An individual affected with chronic inflammation can lead to the accumulation of abnormal cells in the bone marrow. For example, tuberculosis, sarcoidosis, and many more. Chronic inflammation can also cause the formation of a granulomatous lesion in the bone marrow which affects the production of blood cells and their components.

3. Myelofibrosis- Infiltration of the connective tissues in the bone marrow is called myelofibrosis. It is caused due to other underlying causes such as tuberculosis, autoimmune disorders (for example - systemic lupus erythematosus), hypothyroidism, and hyperthyroidism.

4. Lipid storage diseases can also infiltrate the bone marrow by the accumulation of lipids.

Accumulating the non-hematopoietic stem cells in the bone marrow can lead to the deficiency of other blood cells, like white blood cells and platelets, and can cause some life-threatening conditions. So to overcome the deficiency of blood cells the body starts producing blood cells by extramedullary hematopoiesis.

What Is the Epidemiology of Myelophthisic Anemia?

Myelophthisic anemia is not very common and is seen in less than 10 % of individuals affected by cancer. It has no proneness for any race, age, and gender.

What Are the Signs and Symptoms of Myelophthisic Anemia?

Myelophthisic anemia is a hypo-proliferative type of anemia that shows the following signs and symptoms in an affected individual.

1. Weakness.

2. Dizziness.

3. Increased heart rate (tachycardia).

4. Low blood pressure (hypotension).

5. Pallor and paleness over the skin and conjunctiva.

6. Splenomegaly (enlargement of the spleen).

7. Hepatosplenomegaly (spleen and liver enlargement caused by extramedullary hematopoiesis).

8. Delayed capillary refill.

9. Easily bleeding.

10. Hemoglobinuria (hemoglobin content in urine).

11. Headache and confusion.

12. Fever.

13. Recurrent infections.

14. Delayed healing.

15. Shortness of breath.

How Is Myelophthisic Anemia Diagnosed?

Myelophthisic anemia shows similar signs and symptoms to anemia, so it is important to make a diagnosis of specific myelophthisic anemia. In addition, there are some investigations that can be indicated by the healthcare provider to perform and diagnose the disorder.

1. Medical history is very important to understand the signs and symptoms of the patients.

2. Physical examination.

3. Complete Blood Count (CBC)- A blood test is advised to determine the count of the blood cells in the given sample.

4. Peripheral Blood Smear- Small amount of blood sample is collected, and a slide is prepared for the microscopic examination, which helps to determine the shape, size, and color of the red blood cells.

5. Reticulocytes Test- Reticulocytes are the immature red blood cells in the blood. This blood test determines the production of new red blood cells.

6. Hematocrit Test- A blood test is performed to determine the count of packed cell volume of red blood cells.

7. Bone Marrow Biopsy- Tissue collected from bone marrow for examination for identification of infiltrated tissues.

What Are the Treatment Modalities of Myelophthisic Anemia?

Myelophthisic anemia can be treated according to its etiology or causes.

1. Myelophthisic anemia caused due to hematological malignancies can be treated along with the treatment of cancer, that is chemotherapy or radiation therapy.

2. In myelofibrosis, Ruxolitinib is the drug of choice for treatment.

3. It has been observed that there is an interactive connection between the immunological and skeletal system, so the anti-programmed cell death-1 inhibitor or PD-1 inhibitor is used. For example, Pembrolizumab.

4. Packed red cell transfusion is advised.

5. Transfusion of platelets or leukocytes stimulating medication is administered.

How Is the Prognosis of Myelophthisic Anemia?

The prognosis of myelophthisic anemia depends on the underlying cause; if it is caused by high-grade malignancies, the chance of survival is less. But in some cases, early detection leads to a better prognosis.

Conclusion

Myelophthisic anemia is a hypo-proliferative type of anemia that causes a reduction in the production of red blood cells because of the infiltration of non-hematopoietic stem cells in the bone marrow, and it can cause some complications like pancytopenia, thrombocytopenia, or portal hypertension. For the management of myelophthisic anemia, an affected individual should consult a specialist who can understand the associated clinical features and conduct indicated investigation for the diagnosis and treatment planning. The early detection of myelophthisic anemia can lead to a good prognosis.