Bone Marrow Failure

What is bone marrow failure?

Bone marrow failure (BMF) is when the soft center of your bones (bone marrow), where your blood cells are made, isn’t working right. You have three kinds of blood cells:

• Platelets, which help your blood to clot.
• Red blood cells, which carry oxygen from your lungs to the rest of your body.
• White blood cells, which fight infection.

Bone marrow failure can appear in children or adults. It can be dangerous and may be associated with other conditions, including cancer.

Types of bone marrow failure

There are two types of bone marrow failure:

• Acquired: Develops over time. If the cause is known, it may be from disease, drug or chemical exposure, infections or medications.
• Inherited: Passed down from one or both biological parents due to gene changes (mutations).

How common is bone marrow failure?

Researchers estimate that inherited bone marrow failure (IBMFS) affects roughly 65 out of 1 million people born each year. IBMFS leads to 30% of bone marrow failure disorders in children.

Fanconi anemia is the most common type of inherited bone marrow failure disorder. It affects from 1 to 5 out of every 1 million people. The incidence is higher in people of Romani (Spain), Boer (South Africa) or Ashkenazi Jewish heritage.

What are the symptoms of bone marrow failure?

Symptoms vary by the specific bone marrow failure syndrome, but the main symptoms of bone marrow failure are:

• Anemia.
• Bone pain.
• Easy bleeding and bruises.
• Fatigue.
• Frequent infections.
• Headaches and unexplained fever.
• Pale skin.
• Shortness of breath (dyspnea).
• Tiny spots of blood under your skin (petechiae).

What causes bone marrow failure?

Genetic mutations cause inherited bone marrow failure. One or both of your biological parents may carry a gene they pass on to you, or you may develop a new mutation that causes it.

Acquired bone marrow failure causes include:

• Autoimmune disorders.
• Certain types of cancer, like large granular lymphocytic leukemia (LGL), lymphoma and multiple myeloma.
• Chemicals, like those found in insecticides and pesticides.
• Chemotherapy and radiation therapy.
• Medications, like antibiotics and rheumatoid arthritis
• Myelodysplastic syndrome (myelodysplasia).
• Paroxysmal nocturnal hemoglobinuria, an acquired disorder when your red blood cells break down too quickly.
• Viral infections, such as cytomegalovirus, Epstein-Barr virus, hepatitis, HIV and parvovirus B19.

Sometimes, providers don’t know the cause of acquired bone marrow failure (idiopathic).

What are bone marrow failure syndromes?

Sometimes, bone marrow failure is part of a group of related signs and symptoms (a syndrome).

The most common types of inherited bone marrow failure syndromes (IBMFS) include:

• Aplastic anemia.
• Fanconi anemia.
• Dyskeratosis congenita, which affects your lungs, nails and skin.
• Shwachman-Diamond syndrome.
• Congenital (inherited) amegakaryocytic thrombocytopenia.
• Diamond Blackfan anemia.
• Reticular dysgenesis, which results in a deficient immune system.

Less common types of IBMFS include:

• Congenital agranulocytosis (Kostmann syndrome).
• Paroxysmal nocturnal hemoglobinuria.
• Pearson syndrome, which affects your pancreas.
• Short telomere syndromes, which cause you to age faster.
• Thrombocytopenia absent radii syndrome, which affects your blood and bones.

The most common type of acquired bone marrow failure syndrome is acquired aplastic anemia.

Who is at risk for bone marrow failure?

People of every age, race and sex can have bone marrow failure. People often first show symptoms during one of these age ranges:

• 2 to 5.
• 20 to 25.
• After 65.

Children of preschool age have more inherited bone marrow failure, while older adults have more acquired bone marrow failure.

You’re especially at risk of IBMFS if one or both of your parents carry a genetic mutation for a bone marrow failure syndrome. Most inherited bone marrow failure syndromes are autosomal recessive disorders. This means that both of your parents have a mutation associated with the same BMF, though they may not show symptoms. As their child, there’s a 25% chance that you’ll also have the BMF.

Some inherited bone marrow failure syndromes are autosomal dominant disorders. This means that one of your parents has a BMF and the symptoms of that condition. As their child, there’s a 50% chance that you’ll also have bone marrow failure.

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.

Your provider will do a complete blood count (CBC), which looks at your levels of red blood cells, white blood cells and platelets. If you have BMF, these levels will be low.

Depending on what disease your provider suspects, they may also do tests like:

• Bone marrow biopsy.
• MRI or PET scan.
• Blood tests to look for iron deficiency, vitamin B12 deficiency, folate deficiency or copper deficiency.
• Ultrasound to look for hepatomegaly (enlarged liver), an enlarged spleen or swollen lymph nodes.

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

• Stop some of your medications.
• Test for other conditions like hepatitis or pregnancy.
• Test for infections.

Your provider may also suggest genetic testing. This test can find changes in your genes that cause bone marrow failure syndrome.

How is bone marrow failure treated?

Your treatment will depend on:

• Severity of bone marrow failure.
• Specific bone marrow failure syndrome.
• Your age.
• Other symptoms you have.

It’s considered a medical emergency if you have a very low white blood cell count in your bone marrow (neutropenia). In this case, your provider may recommend hospitalization or antibiotics. If you also have a fever, they may treat you for potential infections using antivirals or antifungals.

Treatments for bone marrow failure may include:

• Blood transfusion, to relieve symptoms such as anemia, bleeding and fatigue by increasing red blood cells and platelets.
• Bone marrow stimulants, which help your bone marrow to make more blood cells.
• Immunosuppressants, to help stop your immune system from damaging healthy cells.
• Medications, such as corticosteroids and androgens, to increase blood cell production.

Many times, these treatments help relieve symptoms for only a short time. A bone marrow transplant (stem cell transplant) is the only treatment shown to help for a longer time. During this procedure, a surgeon replaces your damaged cells with healthy ones from a donor.

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

• Are younger than 55.
• Have a related donor match.
• Have severe disease.

How can I reduce my risk of bone marrow failure?

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

What can I expect if I have bone marrow failure?

Bone marrow disease can be a lifelong health condition. Your provider may want to closely monitor you, even if you’re feeling well.

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

Life expectancy for people with bone marrow failure can range from months to a full lifespan. Life expectancy varies by a person’s:

• Specific bone marrow condition.
• Severity of disease.
• Age at diagnosis and start of treatment.
• Other health conditions.
• Response to treatment.

If you have life-threatening bone marrow failure, you’ll need immediate treatment by a doctor who specializes in blood (hematologist) or cancer (oncologist). Many people with BMFS need a provider to monitor their condition for their entire lives.

What is the outlook if I have bone marrow failure?

The outlook depends on the cause and severity of your bone marrow failure. Even with treatment, people with BMF have an increased risk of:

• Blood cancers, like acute myeloid leukemia (AML).
• Bleeding.
• Infections.
• Myelodysplasia, a type of cancer that keeps your blood stem cells from maturing into healthy cells.
• Solid tumor cancers, like osteosarcoma and rhabdomyosarcoma.
• Squamous cell carcinoma.

How do I take care of myself with bone marrow failure?

Take care of your general health, including eating healthy foods, exercising and avoiding tobacco and alcohol use. You should also see your provider on a regular basis. They can monitor you for any changes and provide prompt treatment with antibiotics, blood infusions or medications as needed.

When should I see my healthcare provider?

You should see your healthcare provider immediately if you notice any new or worsening symptoms.

If you plan to become pregnant, you may want to talk to your provider about genetic counseling.

A note from Cleveland Clinic

Symptoms of bone marrow failure (BMF) — like bleeding, bruising, fatigue and shortness of breath — can cause stress and worry. Your provider can recommend treatments to help you manage symptoms. You may be a candidate for a stem cell transplant. You’ll work closely with your care team for the rest of your life, so it’s important to find an expert team you can trust.