Aplastic anemia is a syndrome of bone marrow failure. Historically, this disease was named "anemia" due to the inability to measure red blood cells in circulation. More accurately, however, patients with aplastic anemia have pancytopenia - a deficiency of all three cellular components of blood (red blood cells, white blood cells, and platelets).

Because aplastic anemia is a rare disorder, accurate information regarding its incidence is not widely available. The published statistics are primarily based on European reviews of death registries. It is estimated that 600-900 Americans are diagnosed with aplastic anemia annually, and the global incidence is 0.6-6.1 cases per million population. Aplastic anemia affects people of all ages and affects men and women equally, but it is diagnosed most often in children, young adults, and the elderly. (3, 6)

Aplastic anemia is a severe illness. Conventional treatment is required and encompasses addressing the underlying cause and bone marrow transplantation (3). Utilizing adjunctive functional medicine testing and treatment modalities can aid in uncovering contributing factors to disease, prevent disease complications, and palliate symptoms of pancytopenia and adverse effects of conventional therapies.

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What is Aplastic Anemia?

Aplastic anemia is a rare blood disorder characterized by bone marrow failure that results in insufficient production of red blood cells (RBCs), white blood cells (WBCs), and platelets. WBCs are a cellular component of the immune system that act to fight infection and disease. Platelets are the cells involved in blood clotting pathways. The anemia resulting from deficient RBCs is classified as normocytic, meaning there is no change to the size or shape of the circulating RBCs.

Aplastic anemia may be acquired or inherited. At least half of aplastic anemia cases are idiopathic - they arise without a known cause. Identified causes of acquired aplastic anemia include:

• Autoimmune disease targeting the bone marrow
• Cancer that has metastasized to the bone marrow
• Chemical exposure (e.g., benzene and arsenic)
• Pharmaceutical medications (e.g., anticancer agents, antibiotics, nonsteroidal anti-inflammatories, and antiseizure medications)
• Pregnancy
• Radiation and chemotherapy
• Viral infections (e.g., Epstein-Barr, hepatitis viruses, cytomegalovirus, parvovirus B19, and HIV)

Hereditary aplastic anemia is inherited through genes passed from parent to child. It is much less common than acquired aplastic anemia and is usually diagnosed in childhood. Inherited disorders associated with aplastic anemia include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, and Diamond-Blackfan anemia.

Aplastic Anemia Symptoms

Aplastic anemia's symptoms reflect decreased bone marrow production of RBCs, WBCs, and platelets. Some people may not have any symptoms, and symptom onset is usually gradual when they do occur. Initial symptoms are generally related to anemia or bleeding.

Common symptoms of aplastic anemia include (4, 5):

• Dizziness
• Easy bleeding and bruising
• Fatigue
• Fever
• Frequent illness and infection
• Heavy menstrual bleeding
• Irregular heart rate
• Pale skin
• Rash
• Shortness of breath

Aplastic anemia can be acute and resolve quickly, or it can become chronic. In severe, chronic aplastic anemia, complications like severe infection, heart disease, blood cancer, and death can occur. (5)

Risk Factors for Aplastic Anemia

Although rare, some factors can increase the risk of developing aplastic anemia. These include (4, 5):

• Autoimmune diseases
• Cancer treatment with high-dose radiation or chemotherapy
• Exposure to toxic chemicals
• Family history of bone marrow failure syndrome
• Paroxysmal nocturnal hemoglobinuria, a disorder characterized by autoimmunity against RBCs and platelets
• Pregnancy
• The use of some prescription medications, such as chloramphenicol (an antibiotic) and gold compounds (used to treat rheumatoid arthritis)
• Viral infections

How Is Aplastic Anemia Diagnosed?

Aplastic anemia is a diagnosis of exclusion, meaning that the diagnosis can only be made once all other conditions that could result in similar symptoms are ruled out. When aplastic anemia is suspected, a comprehensive history, physical exam, and laboratory workup are required for rapid diagnosis. Baseline evaluation requires a complete blood count (CBC) with differential, a blood smear, a reticulocyte count, and a bone marrow biopsy. Laboratory findings indicative of aplastic anemia are outlined in the table below. The bone marrow biopsy contains fewer blood cells than normal with fatty infiltrates. (1)

Tests Ordered to Rule Out Other Causes of Blood Cell Deficiencies

• Micronutrient panel to rule out nutritional deficiencies. Vitamin B12, folate, iron, zinc, and copper levels are of the most interest (2, 3).
• Liver function tests
• Viral screening: hepatitis panel, Epstein-Barr virus (EBV), cytomegalovirus (CMV), parvovirus B19, HIV
• Lupus antibody test to rule out systemic lupus erythematosus (SLE)
• Immunoglobulins IgA, IgG, and IgM to rule out immunodeficiency
• Erythropoietin is the hormone made by the kidneys to help produce RBCs. A deficiency in this hormone may cause anemia.
• Urinary tests can screen for exposure to environmental toxins and heavy metals

Once a diagnosis of aplastic anemia is made, disease severity is established via the Camitta criteria, dependent on the number of blood cells in the bone marrow.

How Is Aplastic Anemia Treated?

If possible, removing the exposure to the underlying cause is the first step in treating aplastic anemia. For patients who are unable to do this, or for those where the cause is unidentifiable, treatment is guided by the patient's age and disease severity. (6)

Blood transfusions replete the body with blood cells the bone marrow isn't producing. You may receive RBCs to manage anemia or platelets to control excessive bleeding in the short-term. (7, 8)

A bone marrow transplant replaces marrow that is not functioning correctly with donor stem cells. Bone marrow transplantation is the only definitive cure for aplastic anemia, but it requires a good donor match and comes with its own risks, like infection. (6-8)

When bone marrow transplant is not an option, alternative treatment options include growth factors to stimulate blood cell production and immunosuppressive therapy to stop autoimmune destruction of the bone marrow. (7)

Integrative Medicine Treatment for Thalassemia

It is important to understand that functional medicine cannot treat severe aplastic anemia and should be used adjunctively to address and treat underlying factors and provide symptom palliation.

Nutrition

Establishing healthy dietary patterns is important before, during, and after treatment for aplastic anemia. A healthy diet minimizes treatment side effects and palliates anemia-associated fatigue. To ensure you are meeting nutrient needs, eating a plant-based, nutrient-dense diet with a variety of fruits, vegetables, whole grains, and legumes is recommended. Eating organic foods can decrease environmental exposure to pesticides and increase the nutritious quality of food.

Your doctor may recommend the neutropenic diet if you have very low levels of neutrophils, a specific type of WBC. This diet helps to protect people with weakened immune systems from harmful bacteria found in foods. General guidelines include:

• Cook all fruits and vegetables before eating, or buy canned
• Avoid raw or rare-cooked meat, fish, and eggs
• Avoid eating foods from deli counters
• Consume pasteurized dairy products
• Wash your hands and cooking surfaces before handling food

Herbs & Supplements

Prevention of infections, one of the most common complications of aplastic anemia, is important. Immune-boosting supplements include vitamins C and D, zinc, probiotics, elderberry, and echinacea.

Glutathione, often referred to as the body's "master" antioxidant, helps to combat inflammation, supports immune function, and assists the liver in detoxing harmful toxins from the body.

Frequent blood transfusions can cause iron overload, which can lead to excessive inflammation and organ damage. Avoiding iron supplements and drinking black tea can reduce the amount of iron absorbed into circulation from the digestive tract, reducing the iron load on the body. Plant compounds called flavonoids, widely found in fruits, vegetables, and tea, have antioxidant properties that combat inflammation and iron-binding properties.

Adaptogenic herbs help the body respond to physiological stressors. Although adaptogens will not directly treat aplastic anemia, they can be helpful in ameliorating feelings of anxiety and fatigue that may accompany a diagnosis of aplastic anemia.

Lifestyle Modifications

Anemia often causes fatigue and exercise intolerance. Resting as needed and partaking in low-intensity exercise can help preserve energy levels. (5)

Avoiding high-contact activities and sports decreases the risk of injury and uncontrolled bleeding.

Summary

Aplastic anemia is a rare and serious blood disorder characterized by a deficiency of red blood cells, white blood cells, and platelets caused by bone marrow failure. Many factors could result in aplastic anemia, so the diagnostic process must be thorough in excluding other diagnoses and fully understand the disease's origins before initiating treatment.

Conventional therapy is required for treating aplastic anemia and typically consists of pharmacologic agents targeted at the underlying cause of the illness and curative bone marrow transplantation. This does not mean, however, that functional medicine does not have a role to play. Working with a functional medicine provider to create a plan incorporating functional testing and alternative therapies can assist in the diagnostic process, prevent complications, and improve the quality of life through the disease's progression.