Bone Marrow Failure

What is bone marrow failure?

Bone marrow failure happens when your bone marrow doesn’t produce enough of the red blood cells, white blood cells or platelets that help keep your body working. Platelets help your blood to clot. Red blood cells carry oxygen throughout your body. White blood cells fight infection.

Bone marrow failure usually is a complication of other medical conditions, but it can also happen for no known reason. Healthcare providers can treat bone marrow failure with medication and procedures that temporarily ease symptoms, but an allogeneic stem cell transplant is the only long-term term treatment for bone marrow failure.

Types of bone marrow failure

There are two types of bone marrow failure:

• Acquired: Experts don’t know all the reasons why people develop acquired bone marrow failure. But research shows the condition may happen from having certain diseases or being exposed to certain chemicals or medications. Acquired bone marrow failure develops over time.
• Inherited: This type may happen if you inherit gene changes (mutations) from one or both of your biological parents. Healthcare providers call this bone marrow failure syndrome.

How common is this condition?

It’s not common. For one example, each year, 65 in 1 million babies born in the U.S. have inherited disorders that cause bone marrow failure (bone marrow failure syndrome). Another example is the inherited disorder Fanconi anemia, which affects 1 to 5 in 1 million people.

What are the symptoms of bone marrow failure?

Symptoms vary depending on what’s causing the bone marrow failure. For example, people with inherited bone marrow failure may start showing symptoms at age 2. But research shows that people with an acquired form of the condition may have symptoms that appear between ages 20 and 25 or after age 65. Regardless of when they start, the most common bone marrow failure symptoms are:

• Bone pain
• Excessive bleeding
• Fatigue
• Fever
• Frequent bacterial infections
• Headaches
• Shortness of breath (dyspnea)
• Skin color that’s paler than usual
• Tiny spots of blood under your skin (petechiae)
• Unexplained bruising

What causes bone marrow failure?

You may develop bone marrow failure if:

• You have bone marrow failure syndrome.
• You have blood cancer, blood disorders or develop certain types of blood disorders, cancer or infections (acquired bone marrow failure).
• You’re exposed to chemicals, drugs and medication that increase your risk (acquired bone marrow failure).

Sometimes, the condition happens for no known reason. Healthcare providers may call this “idiopathic bone marrow failure.” Researchers believe there’s a connection between autoimmunity and bone marrow failure. Autoimmunity is when your immune system mistakenly targets your bone marrow.

Bone marrow failure syndromes

These are inherited conditions with related or similar signs or symptoms:

• Congenital agranulocytosis (Kostmann syndrome): This condition affects your neutrophils, a type of white blood cell.
• Congenital amegakaryocytic thrombocytopenia (CAMT): In this condition, you have fewer megakaryocytes, which are bone marrow cells that help to make platelets.
• Diamond-Blackfan anemia: This is a chronic condition that affects red blood cell production.
• Dyskeratosis congenita: Symptoms of this condition include skin changes that are an early symptom of bone marrow failure.
• Fanconi anemia: This is the most common bone marrow failure syndrome.
• Reticular dysgenesis: This is a form of severe combined immunodeficiency (SCID), when your body doesn’t make enough mature T-cells.
• Severe congenital neutropenia: In this condition, you have a lower-than-usual number of neutrophils, a type of white blood cell.
• Shwachman-Diamond syndrome: This condition affects your pancreas, bone marrow and bones.

If one of your biological parents has the condition and symptoms of the condition (autosomal dominant), there’s a 50% chance you’ll develop that condition and have an increased risk of bone marrow failure syndrome.

Your risk of bone marrow failure drops to 25% if both of your biological parents carry a genetic mutation for the same type of bone marrow failure syndrome but neither has the condition (autosomal recessive).

Blood cancers

You have increased risk of bone marrow failure if you have one of the following:

• Lymphoma
• Multiple myeloma
• Myelodysplastic syndrome

Blood disorders

Some people are born with these conditions. Others develop them over time. They include:

• Aplastic anemia: This rare blood disorder damages your bone marrow so it can’t make new blood cells and platelets. Healthcare providers may use the term “aplastic anemia” when they talk about bone marrow failure.
• Cytopenias: This includes cytopenias like autoimmune neutropenia, idiopathic neutropenia and large granular lymphocyte leukemia.
• Paroxysmal nocturnal hemoglobinuria: In this condition, your immune system breaks down red blood cells.
• Pure red cell aplasia: This is another inherited condition that affects red blood cell production.

Viral infections

The following viral infections may increase your risk:

• Cytomegalovirus
• Epstein-Barr virus
• Human immunodeficiency virus (HIV)
• Parvovirus B19
• Viral hepatitis

Chemotherapy and/or radiation therapy for cancer may increase your risk of developing bone marrow failure. Likewise, exposure to chemicals and solvents used in some insecticides and pesticides may increase your risk.

What are the complications of bone marrow failure?

It can be life-threatening and may also cause the following complications, even after treatment:

• Bacterial or viral infections
• Bleeding
• Blood cancers, like acute myeloid leukemia or myelodysplasia
• Cancerous tumors like osteosarcoma and rhabdomyosarcoma
• Squamous cell carcinoma

How is bone marrow failure diagnosed?

A healthcare provider will first ask about your symptoms, your medical history and your family medical history. They’ll also do a physical exam. They may do blood tests and imaging tests as well.

Blood tests

Blood tests may include:

• Ceruloplasmin test
• Complete blood count (CBC)
• Ferritin test
• Folate deficiency test
• Vitamin B12 deficiency

Imaging tests

Imaging tests may include:

• Magnetic resonance imaging (MRI)scan
• Positron emission tomography (PET) scan
• Ultrasound

Depending on the results of blood and imaging tests, your provider may do a bone marrow biopsy. They may recommend genetic testing that would detect mutations that cause bone marrow failure.

Your provider may also do tests for certain infections or to rule out other conditions. Your provider will explain why they’re doing each test and what the tests may show.

What are treatments for bone marrow failure?

Your treatment will depend on factors, including:

• The type of bone marrow failure, including whether it’s inherited or acquired.
• The severity of your situation.
• Your age and overall health.
• Your symptoms.

Treatments may include:

• Antibiotics, antifungal and antiviral medication, to fight infection
• Blood transfusion, to increase red blood cells and ease symptoms like bleeding and fatigue
• Bone marrow stimulants, which help your bone marrow to make more blood cells
• Immunosuppressants, to help stop your immune system from attacking your bone marrow
• Allogeneic stem cell (bone marrow) transplant

What are treatment complications or side effects?

Complications and side effects vary depending on the treatment, but stem cell (bone marrow) transplants may cause the most significant issues, including graft vs. host disease and infection.

How can I reduce my risk of bone marrow failure?

Unfortunately, you can’t reduce your risk of inherited bone marrow failure. Avoiding chemicals that are associated with bone marrow suppression may reduce your risk of developing some acquired bone marrow failure. And prompt treatment can help relieve your symptoms and improve your quality of life.

What can I expect if I have bone marrow failure?

Your prognosis is what you can expect to happen after treatment, and that can depend on several different factors, including the condition type, your age and overall health, and how well your body responds to treatment.

In general, people with bone marrow failure need ongoing medical treatment and support. But everyone is different. To understand your prognosis, ask your healthcare provider about next steps after your initial treatment.

Is bone marrow failure a terminal illness?

It’s a very serious illness that may be life-threatening. Most people with bone marrow failure receive treatment from experienced specialists, including oncologists and hematologists.

What is the life expectancy for someone with bone marrow failure?

Life expectancy is an estimate of how long you may live after treatment for a specific condition. Life expectancy for people with bone marrow failure can range from months to a full lifespan.

But you’re unique and your experience may be different from everyone else. Ask your healthcare provider about what you can expect, including how long you could live. They’re your best resource for information since they know you and your situation.

How do I take care of myself?

The best way is to take care of your general health. For example, don’t use tobacco products and cut back on or stop drinking beverages that contain alcohol. Here are other suggestions:

• See your healthcare provider regularly. Bone marrow failure can be a lifelong condition. You may need ongoing treatment. It can also cause new medical issues, so it’s important that you have regular check-ups. Your provider will monitor your overall health and treat any new issues.
• Eat a healthy diet. Your symptoms and treatment side effects may affect your appetite or make it hard for you to eat. If you’re worried about getting enough nutrition, talk to a nutritionist. They’ll have recommendations.
• Get some exercise. It can be stressful to have a serious medical issue like bone marrow failure. Exercise is a good way to reduce stress. Be sure to talk to your healthcare provider before starting a new exercise routine.

When should I go to the emergency room?

If you have bone marrow failure, you have an increased risk of infections and bleeding issues. You should go to the emergency room if you have:

• A fever that doesn’t go away after taking over-the-counter pain medication
• Chills
• Bleeding that doesn’t stop and you can’t control

What questions should I ask my healthcare provider?

You may develop bone marrow failure because you have certain inherited disorders. But it sometimes happens for no known reason. You may want to ask your provider the following:

• Do you know why I have bone marrow failure?
• What are my treatment options?
• Will I always need treatment?
• Can you cure it?