Bone marrow failure

What is Bone marrow failure?

Bone marrow failure (BMF) occurs when the bone marrow, the soft centre of bones responsible for producing blood cells, malfunctions. There are three main types of blood cells produced by the bone marrow:

1. Platelets: These aid in blood clotting.

2. Red blood cells transport oxygen from the lungs to the body's tissues.

3. White blood cells: They combat infections.

BMF can manifest in individuals of any age, posing severe health risks and sometimes being linked to other medical conditions, such as cancer.

What are the types of bone marrow failure?

There are two primary categories of bone marrow failure:

1. Acquired: This type develops gradually over time. Underlying diseases, exposure to certain drugs or chemicals, infections, or medications can trigger it.

2. Inherited: This type is inherited from one or both biological parents due to genetic alterations (mutations) passed down through generations.

What are the causes of bone marrow failure?

Genetic mutations primarily cause inherited bone marrow failure. These mutations may be inherited from one or both biological parents or arise spontaneously.

Acquired bone marrow failure can be attributed to various factors, including:

1. Autoimmune disorders.

2. Certain types of cancer, such as large granular lymphocytic leukemia (LGL), lymphoma, and multiple myeloma.

3. Exposure to chemicals found in insecticides and pesticides.

4. Chemotherapy and radiation therapy.

5. Certain medications, including antibiotics and those used to treat rheumatoid arthritis.

6. Myelodysplastic syndrome (myelodysplasia).

7. Paroxysmal nocturnal haemoglobinuria, is an acquired disorder characterized by the rapid breakdown of red blood cells.

8. Viral infections include cytomegalovirus, Epstein-Barr virus, hepatitis, HIV, and parvovirus B19.

In some cases, the cause of acquired bone marrow failure remains unknown (idiopathic).

What are the risk factors of bone marrow failure?

Factors that may increase the risk of bone marrow failure include:

1. Undergoing high-dose radiation or chemotherapy as treatment for cancer.

2. Exposure to toxic chemicals in the environment or workplace.

3. Certain prescription medications, such as chloramphenicol used for bacterial infections, or gold compounds prescribed for rheumatoid arthritis.

4. Having certain blood disorders, autoimmune conditions, or severe infections.

5. Pregnancy, although this is rare.

What are the symptoms of bone marrow failure?

Symptoms associated with bone marrow failure syndromes may vary, but common manifestations include:

1. Anemia.

2. Bone pain.

3. Easy bruising and bleeding tendencies.

4. Fatigue.

5. Recurrent infections.

6. Headaches and unexplained fever.

7. Pale complexion.

8. Shortness of breath (dyspnoea).

9. Small red or purple spots beneath the skin (petechiae).

What is the diagnosis of bone marrow failure?

Initially, your healthcare provider will conduct a thorough assessment by inquiring about your symptoms, medical history, and family medical background. A physical examination will also be performed.

Subsequently, a comprehensive blood test known as a complete blood count (CBC) will be conducted to assess the levels of red blood cells, white blood cells, and platelets. In bone marrow failure (BMF) cases, these levels typically register as low.

Depending on the suspected condition, additional tests may include:

• Bone marrow biopsy.
• MRI or PET scan.
• Blood tests to detect deficiencies in iron, vitamin B12, folate, or copper.
• Ultrasound to examine for hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), or swollen lymph nodes.

To rule out acquired bone marrow failure, your provider may:

• Cease certain medications.
• Conduct tests for other conditions such as hepatitis or pregnancy.
• Test for infections.

Furthermore, genetic testing may be recommended to identify any genetic mutations contributing to the bone marrow failure syndrome.

What is the treatment for bone marrow failure?

Your treatment plan will be tailored based on various factors, including:

• The severity of bone marrow failure.
• The specific type of bone marrow failure syndrome.
• Your age.
• Any additional symptoms you may be experiencing.

It is considered a medical emergency in cases with a significantly low white blood cell count in the bone marrow (neutropenia). In such instances, your healthcare provider may recommend hospitalisation or antibiotic therapy. Antiviral or antifungal medications may also be prescribed to address potential infections if accompanied by fever.

Treatment options for bone marrow failure may involve:

• Blood transfusion: This can alleviate symptoms such as anemia, bleeding, and fatigue by boosting levels of red blood cells and platelets.
• Bone marrow stimulants: These medications help stimulate your bone marrow to produce more blood cells.
• Immunosuppressants: These drugs suppress the immune system, preventing it from attacking healthy cells.
• Medications: Corticosteroids and androgens may be prescribed to enhance blood cell production.

However, these treatments often provide temporary relief. A bone marrow transplant, or a stem cell transplant, is the only intervention that offers long-term benefits. During this procedure, damaged cells are replaced with healthy ones obtained from a compatible donor.

You may be considered a suitable candidate for a stem cell transplant if you:

• Are under 55.
• Have a compatible donor match, typically a related individual.
• Are experiencing severe disease manifestations.

When to see a doctor:

If you have any concerning symptoms, please visit our haemato-oncologist at Apex Hospitals.