APLASTIC ANAEMIA (MARROW FAILURE)

Aplastic anaemia is a condition that occurs when your body does not produce enough new blood cells. Aplastic anaemia will leave you feeling fatigued and with a higher risk of developing infections and uncontrolled bleeding. Aplastic anaemia is a rare and serious condition and can develop at any age. It may occur suddenly, or slowly, progressively getting worse over a long period of time.

There are two different types of aplastic anaemia:

• Inherited aplastic anaemia: This type of anaemia is caused by gene defects, and is most common in children and young adults. If you have this type, you have a higher chance of developing leukaemia and other cancers, so it is important that you see a specialist regularly.
• Acquired aplastic anaemia: This type of anaemia is more common in adults. It is a general consensus among researchers that something triggers problems in the immune system.

SYMPTOMS OF APLASTIC ANAEMIA

Each type of blood cell has a different role. Your red blood cells carry oxygen around the body, whereas your white blood cells fight infection in your body. Your platelets are responsible for preventing bleeding occurring in your body.

Your symptoms will depend largely on what type of blood cells you’re low on, however it is possible to be low on all three. These are common symptoms for each:

• • Low red blood cell count:

Tiredness/fatigue
Dizziness
Headaches
Shortness of breath
Pale skin
Chest pain
Irregular heartbeat

• • Low white blood cell count:

Infections
Fever

• • Low platelet count:

Bruising and bleeding easily

Frequent nosebleeds

Confusion with myelodysplastic syndrome

There is often confusion when it comes to Aplastic anaemia as it can be mistaken for a condition called myelodysplastic syndrome. In this group of disorders, the bone marrow produces new blood cells, but they’re underdeveloped and deformed. The bone marrow in myelodysplastic syndrome is sometimes called hyperplastic. This means that it’s packed full of blood cells – however some people with myelodysplastic syndrome have empty marrow that’s difficult to distinguish from aplastic anaemia.

Connections with other rare disorders

Some people with aplastic anaemia can also suffer from a rare disorder known as paroxysmal nocturnal hemoglobinuria, which causes red blood cells to break down prematurely. Paroxysmal nocturnal hemoglobinuria can lead to aplastic anemia, or vice versa.

Fanconi’s anaemia is a rare, inherited disease that leads to aplastic anaemia. Children born with this condition tend have birth defects, such as underdeveloped limbs and are usually smaller than average. Fanconi’s disease is diagnosed with the help of blood tests.

TREATMENT OPTIONS AVAILABLE FOR APLASTIC ANAEMIA

Treatments for aplastic anaemia may include observation for mild cases, blood transfusions and medications for more-serious cases and in severe cases, bone marrow transplantation. In cases of severe aplastic anaemia, when your blood cell counts are extremely low, immediate hospilization for treatment is necessary as this can be life-threatening.

Blood transfusions

Treatment for aplastic anaemia generally involves blood transfusions to help control bleeding and relieve symptoms of anaemia. Blood transfusions aren’t a cure for aplastic anaemia; however they do relieve signs and symptoms by providing blood cells that your bone marrow isn’t producing. A transfusion may include:

• Red blood cells: Transfusions of red blood cells raise red blood cell counts, helping relieve anaemia and fatigue.
• Platelets: Transfusions of platelets help prevent excessive bleeding from occurring in the body. While there’s generally no limit to the number of blood cell transfusions you can have, complications can sometimes arise with having multiple transfusions. Transfused red blood cells contain iron that can accumulate in your body and damage vital organs if not monitored and treated accordingly. Medications can aid your body in getting rid of excess iron.

Another possible complication is that over time, your body may develop antibodies in  response to the transfused blood cells, making them less effective at relieving your symptoms. However, the use of immunosuppressant medication makes this complication less likely to occur.

Stem Cell Transplant

A stem cell transplant to rebuild the bone marrow with stem cells from a donor may offer the only successful treatment option for people with severe aplastic anaemia. A stem cell transplant – often referred to as a bone marrow transplant – is generally the treatment of choice for people who are younger and have a matching donor, for example, a sibling.

If a donor is found, your diseased bone marrow is first depleted using radiation or chemotherapy and then healthy stem cells from the donor are filtered from the blood. The healthy stem cells are then injected intravenously into your bloodstream, where they migrate to the bone marrow cavities and begin generating new blood cells. This procedure requires a lengthy hospital stay and after the transplant is completed, you’ll receive drugs to help prevent rejection of the donated stem cells.

A stem cell transplant however, carries risks, as there’s a chance that your body may reject the transplant, leading to life-threatening complications. In addition, not everyone is a suitable candidate for a transplant nor can everyone find a suitable donor.

Immunosuppressants

For people who cannot undergo a bone marrow transplant or for those whose aplastic anaemia may be due to an autoimmune disorder, treatment may involve using drugs that alter or suppress the immune system (immunosuppressants).

Drugs such as cyclosporine (Gengraf, Neoral, Sandimmune) and anti-thymocyte globulin (Thymoglobulin) are examples commonly used immunosuppressants. These drugs suppress the activity of immune cells that are damaging the bone marrow. This helps the bone marrow recover and generate new blood cells. Cyclosporine and anti-thymocyte globulin are often used in combination.

Corticosteroids, such as methylprednisolone (Medrol, Solu-Medrol), are in many cases, given at the same time as these drugs.

Immune-suppressing drugs can be very effective at treating aplastic anaemia, but the downside of this is that these drugs weaken your immune system even more. It’s also possible that aplastic anaemia may return after you stop taking these drugs.

Bone Marrow Stimulants

Certain drugs — including colony-stimulating factors, such as sargramostim (Leukine), filgrastim (Neupogen) and pegfilgrastim (Neulasta), and epoetin alfa (Epogen, Procrit) — may help stimulate the bone marrow to produce new blood cells. These stimulants are often used in conjunction with immune-suppressing drugs.

Antibiotics & Antivirals

Having aplastic anemia weakens your immune system due to having fewer white blood cells in circulation to fight off germs. This leaves you vulnerable to getting infections.

At the first sign of infection, such as a fever, see your doctor, as you don’t want the infection to get worse and become life-threatening. If you have severe aplastic anaemia, your doctor may prescribe you antibiotics or antiviral medications to help prevent infections.

DIAGNOSING APLASTIC ANAEMIA

To diagnose aplastic anaemia, your doctor may recommend:

• Blood tests: Normally, red blood cell, white blood cell and platelet levels stay within a certain range. Your doctor may suspect aplastic anemia when all three of these blood cell levels are at extremely low levels.
• Bone marrow biopsy: To confirm a diagnosis, you’ll need to undergo a bone marrow biopsy. This procedure involves a doctor using a needle to remove a small sample of bone marrow from a large bone in your body – often your hipbone. This bone marrow sample is examined under a microscope to rule out other blood-related diseases. A common sign of aplastic anemia is bone marrow that contains fewer blood cells than normal.