Autoimmune Pancytopenia: Cause, Symptoms, Diagnosis, Complications, and Treatment

Creator: Dr. Sachin Sunda
Published: 2023-04-12T18:08:40

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Autoimmune pancytopenia is a condition with a low number of red and white blood cells and platelets in the blood. Read this article for more details.

Written by

Dr. Sachin Sunda

Medically reviewed by

Dr. Abdul Aziz Khan

April 12, 2023

July 11, 2023

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Contents

What Is Pancytopenia?
What Are the Causes of Pancytopenia?
What Is the Epidemiology of Pancytopenia?
What Are the Clinical Features of Pancytopenia?
How to Diagnose Pancytopenia?
How Is Pancytopenia Treated?
What Are the Complications of Pancytopenia?

Introduction:

Pancytopenia is a deficiency of the three hematologic cells of the body, including red blood cells, white blood cells, and platelets. This is not a disease in itself but a common condition caused by various pathologies that can be infectious, genetic, autoimmune (attacking the own cells of the body), nutritional, or malignant (cancerous). Therefore determining the exact cause of pancytopenia is a challenging task, and only after that proper treatment plan can be formulated that directly affects the prognosis of the patient. In addition, pancytopenia can result from decreased production or increased destruction of these cells. Therefore, any patient experiencing this problem has to undergo a thorough examination to identify the underlying pathology.

What Is Pancytopenia?

Pancytopenia is a hematological condition resulting in a deficiency of all three peripheral bloodlines. It occurs when the body cannot produce enough blood cells because the bone marrow stem cells that form blood cells do not function normally. As a result, pancytopenia can affect the overall functioning of the body leading to oxygen shortage and improper functioning of the immune system.

Pancytopenia occurs in two different forms, which include the following:

Idiopathic, in this type, the actual cause is not known. Usually, it is an autoimmune condition, which means that the body starts to attack its tissues as foreign substances and is sometimes often caused by environmental factors. Approximately 50 percent of all cases of pancytopenia are idiopathic.
In other cases, pancytopenia can occur due to different etiologies, which include viral infections, radiation or chemotherapy treatments, drug reactions, and exposure to toxins.

What Are the Causes of Pancytopenia?

The causes of pancytopenia can be classified into a central type that includes production disorders and a peripheral type that includes increased destruction disorders. These etiologies can lead to pancytopenia independently or as a combination.

1. Central Type (Decreased Production) - Pancytopenia due to decreased production of cells occurs because of the following:

Nutritional deficiencies.
Inadequate nutrition intake (as seen in eating disorders and alcoholics) or malabsorption.
If it is caused by bone marrow failure, it is known as aplastic anemia.

Aplastic anemia can be idiopathic or autoimmune, which can occur due to infections such as:

Hepatitis (inflammation of the liver).
Human immunodeficiency virus (HIV).
Cytomegalovirus.
Epstein-Barr virus.
After drug toxicity.

2. Peripheral Type (Increased Destruction) - The peripheral destruction of cells may be linked with various autoimmune disorders such as:

Rheumatoid arthritis (chronic inflammatory disorder affecting multiple joints of the body).
Systemic lupus erythematosus (inflammatory disease occurs when the immune system attacks its tissues).
Alcoholic liver cirrhosis (a form of liver disease due to excessive alcohol consumption).
HIV (human immunodeficiency virus, which attacks the immune system of the body).
Tuberculosis (bacterial infection of the lungs).
Malaria (mosquito-borne infectious disease).

3. Bone marrow infiltration or Replacement - The production of cells may also get affected when the bone marrow gets infected by a different form of malignancies (cancers), such as

Lymphoma (cancer of the lymphatic system).
Leukemia (cancer of blood-forming tissues, including the bone marrow and the lymphatic system).
Multiple myeloma (cancer of plasma cells, a type of white blood cells).

Recently, pancytopenia has also been linked to the Covid-19 virus.

4. Environmental Causes of Pancytopenia - Various environmental factors such as medications, toxins, or infections can also lead to pancytopenia, which includes -

Certain medications, including some antibiotics or immunosuppressant drugs.
Chemical toxins such as benzene.
Chemotherapy.
Radiation exposure.
Viral infections.

What Is the Epidemiology of Pancytopenia?

Pancytopenia can frequently be seen in children and adults in the third or fourth decade of life. The male and female predominance is found to be 1.4:2.6, which is more common in females.

In older patients, conditions like multiple myeloma and myelodysplastic syndrome (a group of disorders disrupting the formation of blood cells in bone marrow) lead to pancytopenia. In younger patients, conditions like leukemia and parvovirus B19 infection can cause pancytopenia.

What Are the Clinical Features of Pancytopenia?

Pancytopenia symptoms can be vast in number as they can occur due to different types of etiologies, which include the following:

Generalized Symptoms Of Pancytopenia -

Bleeding gums.
Fatigue.
Weakness (loss of strength).
Skin rashes.
Nosebleeds.
Pale skin or pallor.
Rapid heart rate (tachycardia).
Frequent infections.
Shortness of breath.
Skin discoloration, such as bruising.

Serious Symptoms That Can Lead To Life-threatening Complications -

Confusion or loss of consciousness.
Excessive bleeding without apparent cause.
Extreme fatigue, weakness, or shortness of breath.
High fever.

How to Diagnose Pancytopenia?

The complete patient history is very important in evaluating pancytopenia, which includes investigating symptoms of conditions such as autoimmune disorders, recent infections, medications, malignancies, or radiation therapy. Family history should also be taken in case of inherited aplastic anemia, and the nutritional status of the patient should also be noted.

The initial step is to take the complete blood count (CBC) test, which helps to determine the level of blood cells in the body and to identify if it is secondary to decreased production or increased destruction type of etiology. The following values can help in understanding the etiological factors which include the following:

Hemoglobin value of less than 12 g/dL in women and 13 g/dL in men.
Platelets of less than 150,000 per mcL.
Leukocytes of less than 4000 per ml or absolute neutrophil count of less than 1800 per ml.

However, all these values may vary due to the sex, age, and race of the patient. Under the microscope, a peripheral blood smear may show abnormal or immature cells, which can be linked with different hematological disorders. Additional tests may also be required to identify abnormal cells, which include the following:

Bone marrow aspirate and biopsy.
Flow cytometry of bone marrow or peripheral blood.
Molecular studies such as mutation analysis or gene expression profiling.
Checking the levels of vitamin B12 and folate.
Liver chemistry.
Lactate dehydrogenase levels.
Multiple lab tests for infections like HIV (human immunodeficiency virus), tuberculosis, or malaria can also be done.

In severe cases of pancytopenia, if no specific etiology is found, bone marrow aspiration or biopsy can be done to evaluate the status of bone marrow stem cells. It helps establish the diagnosis in more than 70 percent of cases.

How Is Pancytopenia Treated?

In mild cases of pancytopenia, no treatment may be required as it gets resolved on its own and does not lead to any complications. In moderate cases of pancytopenia, blood transfusions may be required to restore blood cell counts. In severe cases, bone marrow transplant or stem cell therapy may be required to make the bone marrow produce blood cells. This type of treatment is very effective in younger patients, but in the case of older patients, immunosuppressive drugs or drugs that stimulate the bone marrow may be prescribed.

Immunosuppressive drugs are advised when the immune system of the body starts attacking the bone marrow, which helps suppress the immune system, which includes the following:

Antithymocyte antibodies.
Corticosteroids, such as Methylprednisolone.
Cyclophosphamide.
Cyclosporine.

Bone marrow stimulating drugs include the following:

Epoetin alfa.
Filgrastim.
Pegfilgrastim.
Sargramostim.

What Are the Complications of Pancytopenia?

If pancytopenia is left untreated, it can lead to life-threatening complications. In younger patients, treatments like bone marrow transplants or bone transfusions are normally successful in treating pancytopenia. However, the complications that tend to be seen in older patients are the following:

Severe bleeding.
Bleeding in the brain.
Sepsis (life-threatening bacterial blood infection).
Complications from blood transfusions.
Complications from medications used to treat the condition.
Poor reaction to bone marrow transplant (graft rejection).

Conclusion:

Most cases of pancytopenia are minor due to nutritional deficiencies and can be treated easily. However, anyone experiencing the symptoms such as loss of consciousness or severe bleeding should seek medical help, as it can be life-threatening. The prognosis of pancytopenia depends upon the type of etiology that causes this condition and how it has to be treated.

Frequently Asked Questions

1. How Does Cirrhosis Lead to the Development of Pancytopenia?

Through several interrelated pathways, the progressive liver disease cirrhosis can cause pancytopenia. Impaired blood component production in the liver is one major mechanism. The liver's capacity to manufacture necessary proteins, such as clotting factors and erythropoietin (a hormone that drives the creation of red blood cells), is weakened as cirrhosis advances. Anemia, thrombocytopenia (low platelet count), and leukopenia (low white blood cell count) are the outcomes; they all work together to cause pancytopenia. Additionally, the enlarged spleen makes the disease worse, a typical cirrhosis consequence that confines and removes blood cells from circulation.

2. In Which Blood Disorder Does Pancytopenia Typically Manifest?

Pancytopenia typically manifests in various blood disorders, with aplastic anemia being one of the primary conditions where it is commonly observed. This condition often results from bone marrow failure, severely impairing the bone marrow's ability to generate blood cells. Other blood disorders such as myelodysplastic syndromes, leukemia, and certain autoimmune diseases can also lead to pancytopenia, but aplastic anemia remains a prominent example where pancytopenia is a hallmark feature.

3. Is It Possible to Have Both Pancytopenia and Leukocytosis Concurrently?

Pancytopenia and leukocytosis can occur together, although this may appear paradoxical. Red, white, and platelet count deficiencies are referred to as pancytopenia. On the other hand, leukocytosis specifically refers to a raised white blood cell count. In rare instances, an underlying disease can lead to leukocytosis, which is an increase in the production of white blood cells while causing a decrease in red blood cells and platelets (pancytopenia). This complicated situation could manifest, for instance, in some bone marrow diseases or infections, where the body produces more white blood cells in response, even while it is also losing other blood cell components.

4. What Sets Pancytopenia Apart from Neutropenia?

Neutropenia and pancytopenia are separate but related diseases. Red blood cells, white blood cells, and platelets are the three main blood cells that are reduced in pancytopenia. Contrarily, neutropenia specifically refers to a low white blood cell count, especially a deficiency in neutrophils, which are crucial for battling bacterial infections. Although pancytopenia includes neutropenia as one of its components, pancytopenia covers a wider range of blood cell deficits. Pancytopenia can result from neutropenia, but pancytopenia also entails further declines in platelets and red blood cells, resulting in a more thorough impairment of blood cell function.

5. Why Is Pancytopenia Observed in Cases of Pernicious Anemia?

Because pernicious anemia is largely brought on by a vitamin B12 deficiency, which is essential for developing new blood cells, pancytopenia is frequently seen in instances of pernicious anemia. The normal maturation of red blood cells in the bone marrow depends on vitamin B12. The red blood cells generated when there is a vitamin B12 deficiency, as observed in pernicious anemia, are bigger and less functioning (macrocytic anemia). A vitamin B12 shortage can also disrupt the synthesis of platelets and white blood cells, leading to pancytopenia. Therefore, a vitamin B12 deficiency in pernicious anemia interferes with the proper development of all three major blood cell types, resulting in pancytopenia.

6. Does Pancytopenia Result in Decreased Hemoglobin Levels?

The answer is yes; pancytopenia can cause a drop in hemoglobin levels. All main blood cell types, including red blood cells (RBCs), are deficient in pancytopenia. Hemoglobin levels drop in the circulation when red blood cells are scarce, as in pancytopenia. As a result, anemia develops, characterized by decreased blood's ability to transport oxygen and manifests as symptoms including weakness, paleness, and exhaustion. Thus, pancytopenia can directly cause low hemoglobin levels since it lowers the number of red blood cells at the same time.

7. Which Type of Anemia Is Often Associated with Pancytopenia?

Aplastic anemia, characterized by a considerable reduction in the formation of all three major blood cell types—red blood cells, white blood cells, and platelets—is frequently linked to pancytopenia. When the bone marrow, which is in charge of producing blood cells, malfunctions, aplastic anemia develops. Since aplastic anemia concurrently affects several blood cell lines and causes a wide spectrum of blood cell shortages, it is a classic example of anemia intimately connected to pancytopenia.

8. Do All Forms of Leukemia Result in Pancytopenia?

Pancytopenia does not always accompany all types of leukemia. A type of blood malignancy known as leukemia typically affects white blood cells, particularly those found in the bone marrow and blood. While leukemia can impede the development of healthy blood cells, it does not always result in pancytopenia, characterized by a decrease in platelets, white blood cells, and red blood cells. The severity of leukemia's effects on blood cell counts varies according to the disease's stage and particular subtype. Some leukemias may only damage white blood cells, with little or no impact on other blood cell types. Others, however, can cause pancytopenia due to bone marrow invasion and disruption of normal blood cell synthesis.

9. Can Iron Deficiency Be a Cause of Pancytopenia?

Iron deficiency is not a direct cause of pancytopenia. Pancytopenia typically results from factors that disrupt the bone marrow's ability to produce all three major blood cell types: red blood cells, white blood cells, and platelets. Iron deficiency primarily affects red blood cell production, leading to anemia. While severe and prolonged iron deficiency anemia can have systemic effects on overall health, it does not directly lead to reductions in white blood cells and platelets, essential components of pancytopenia. Pancytopenia is often associated with conditions such as bone marrow disorders, aplastic anemia, or certain medications that interfere with blood cell production.

10. Which Cancers Are Known to Cause Reductions in White and Red Blood Cell Counts?

Several cancers can lead to reduced white and red blood cell counts, a condition known as cytopenia. Hematologic malignancies, such as leukemia and lymphoma, can infiltrate the bone marrow, displacing normal blood cell production and causing cytopenia. Additionally, metastatic cancers, which have spread to the bone marrow, can disrupt blood cell production and lead to cytopenia. Moreover, myelodysplastic syndromes, a group of blood disorders characterized by abnormal blood cell production, can progress to cytopenia. The specific type and stage of cancer and its impact on the bone marrow determine the extent of cytopenia experienced by individuals with cancer.

11. How Does a Deficiency in Vitamin B12 Lead to Pancytopenia?

A deficiency in vitamin B12 causes pancytopenia due to its vital role in blood cell production. When there's a deficiency of vitamin B12, red blood cells become enlarged and dysfunctional (macrocytic anemia). Additionally, vitamin B12 deficiency can affect white blood cell and platelet production, contributing to the development of pancytopenia. The disruption in all three major blood cell lines results from impaired DNA synthesis in rapidly dividing blood cell precursors, which is necessary for their proper maturation and function. Therefore, vitamin B12 deficiency can have a cascading effect on blood cell production, resulting in pancytopenia.

12. What Factors Contribute to the Development of Anemia and Decreased White Blood Cell Count?

Several factors can contribute to anemia and a decreased white blood cell count. Anemia is often caused by nutritional deficiencies (e.g., iron, vitamin B12, or folate), chronic diseases, bone marrow disorders, or inherited conditions like sickle cell anemia. Decreased white blood cell count, known as leukopenia, can result from infections, certain medications, autoimmune diseases, bone marrow disorders, or malignancies. While both anemia and leukopenia can occur together in various medical conditions, the underlying cause for each condition should be evaluated and treated separately, as they may require different approaches to management.

13. Is a Low White Blood Cell Count a Serious Medical Concern?

A low white blood cell count, known as leukopenia, can vary in severity and cause, and its seriousness depends on the underlying condition and individual health. Mild and transient leukopenia may result from factors like viral infections or certain medications and may not pose significant health risks. However, persistent and severe leukopenia can weaken the immune system's ability to fight infections, especially when caused by bone marrow disorders, autoimmune diseases, or certain infections. Such cases are more concerning and may require medical attention, including treatments to address the underlying cause or, in some cases, medication to boost white blood cell production. Regular monitoring and medical guidance are crucial in managing leukopenia.

14. Is There a Cure for a Low Red Blood Cell Count?

The durability of a low red blood cell count, known as anemia, depends on its underlying cause. Sometimes, anemia can be effectively treated and even cured when the root cause, such as nutritional deficiencies, chronic diseases, or bone marrow disorders, is addressed. For example, iron deficiency anemia can often be cured by iron supplementation and dietary changes. However, anemia resulting from chronic conditions or genetic disorders may require ongoing management rather than a complete cure. The prognosis and treatment options for anemia vary widely based on the specific type and severity of the underlying condition.

15. What Is the Relationship Between Liver Cirrhosis and the Development of Pancytopenia?

Liver cirrhosis can lead to pancytopenia through several interconnected mechanisms. Firstly, cirrhosis disrupts the liver's production of essential proteins and growth factors necessary for blood cell production. This includes thrombopoietin, which stimulates platelet production, and erythropoietin, which promotes red blood cell production. Secondly, cirrhosis often leads to splenomegaly, an enlargement of the spleen. The enlarged spleen traps and removes blood cells, reducing their circulating numbers. Additionally, cirrhosis can result in hypersplenism, a condition in which the spleen's overactive function prematurely destroys blood cells. These combined effects decrease red blood cells, white blood cells, and platelets, contributing to the development of pancytopenia in individuals with liver cirrhosis.

Sources

Dr. Abdul Aziz Khan

Medical oncology

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