Bone Marrow Disorder

Bone marrow disorders occur when the spongy tissue inside your bones, which produces vital blood cells, stops working properly or develops problems with the stem cells that create red blood cells, white blood cells, and platelets.

Table of contents

• What is Bone Marrow and Its Function
• Types of Bone Marrow Disorders
• Causes
• Symptoms
• Diagnosis
• Treatment Options
• Living with Bone Marrow Disorders

What is Bone Marrow and Its Function

• Hip bone (pelvis)
• Thigh bone (femur)
• Sternum (middle of chest)

Bone marrow is a soft, spongy tissue found inside some of your bones, particularly in your hip and thigh bones. This tissue contains stem cells, which are special cells that can develop into different types of blood cells your body needs to function^[1].

The stem cells in bone marrow can develop into three main types of mature blood cells. Red blood cells carry oxygen through your body using a protein called hemoglobin. White blood cells fight infections and protect your body from disease. Platelets help your blood clot to stop bleeding when you get a cut or injury^[1].

The bone marrow is the seat of production of hematopoietic cells, which is another term for blood-forming cells. From the bone marrow, only the mature cells are released into the blood stream. The marrow also contains supporting fibrous tissues that help maintain its structure^[6].

Types of Bone Marrow Disorders

With bone marrow disease, there are problems with the stem cells or how they develop. These disorders can affect the production of any type of blood cell, leading to various health complications^[1].

In leukemia, a cancer of the blood, the bone marrow makes abnormal white blood cells. These abnormal cells begin to replicate non-stop, clogging the bone marrow and decreasing production of other cells^[1][6].

In aplastic anemia, the bone marrow doesn’t make enough red blood cells. This condition can develop suddenly or come on slowly and worsen over time. It can be mild or severe and leaves you feeling tired and more prone to infections and uncontrolled bleeding^[1][5].

In myeloproliferative disorders, the bone marrow makes too many white blood cells. The main types of problems include increased production of one type of cell, which packs up the marrow and decreases the production of other cell types^[1][6].

Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells^[1].

Bone marrow failure can be divided into two categories: acquired and inherited. Acquired bone marrow failure develops over time and may happen from having certain diseases or being exposed to certain chemicals or medications. Inherited bone marrow failure, also called bone marrow failure syndrome, occurs from gene changes (mutations) that you inherit from one or both of your biological parents^[2].

The most common inherited bone marrow failure syndromes include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan anemia, and reticular dysgenesis^[8].

Causes

Causes of bone marrow diseases include genetics and environmental factors^[1].

You may develop bone marrow failure if you have bone marrow failure syndrome, if you have blood cancer or blood disorders, or if you’re exposed to chemicals, drugs, and medications that increase your risk. Most cases of acquired aplastic anemia are not genetic but result from an autoimmune disorder in which a patient’s immune system attacks his or her own bone marrow^[2][13].

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, where your immune system mistakenly targets your bone marrow^[2].

Inherited bone marrow failures occur secondary to germline mutations, which are gene changes passed down from parents or arising on their own. Most are inherited in an autosomal recessive manner, while a small subset is inherited in X-linked recessive or autosomal dominant patterns^[8].

Symptoms

Symptoms vary depending on what’s causing the bone marrow disorder. People with inherited bone marrow failure may start showing symptoms at age 2. 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^[2].

The most common bone marrow failure symptoms include bone pain, excessive bleeding, fatigue, fever, frequent bacterial infections, headaches, shortness of breath, skin color that’s paler than usual, tiny spots of blood under your skin called petechiae, and unexplained bruising^[2].

When present, symptoms of aplastic anemia can include fatigue, shortness of breath, rapid or irregular heart rate, frequent or prolonged infections, unexplained or easy bruising, nosebleeds and bleeding gums, prolonged bleeding from cuts, pale skin, skin rash, and fever^[5].

When there are fewer healthy blood cells, infection, anemia (a condition with too few red blood cells), or easy bleeding may occur^[1].

Diagnosis

Tests for bone marrow diseases include blood and bone marrow tests^[1].

Your doctor might order blood tests to determine the number of red cells, white cells, and platelets and look for unusual changes in the size, shape, and appearance of various blood cells^[1].

During a bone marrow biopsy and aspiration, a thin needle is used to withdraw a small amount of liquid bone marrow, usually from a spot on the back of your hipbone. Then a small piece of bone with its marrow is removed. Blood and bone marrow samples are sent for laboratory analysis. Specialized tests can determine the specific characteristics of your cells that will be helpful for determining the type of bone marrow disorder you have, your prognosis, and your treatment options^[1].

Treatment Options

Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions, or a bone marrow transplant^[1].

Supportive care is essential for patient survival. This includes blood transfusions using specific cells, such as packed red cells for anemia and platelets for thrombocytopenia (low platelet count). Supportive care gives only temporary relief of symptoms and does not treat the primary disease^[14].

An allogeneic stem cell transplant, otherwise known as a bone marrow transplant, is the only long-term treatment for bone marrow failure. In this procedure, cells are collected from a tissue-matched donor, usually a brother or sister or an unrelated donor, whose human leukocyte antigens are a compatible match. The transplant involves the infusion of healthy blood stem cells into the body to stimulate new bone marrow growth and restore production of healthy blood cells^[2][10].

Before receiving the transplant, patients undergo conditioning therapy, which includes chemotherapy and/or radiation, to prepare the body for the transplant. The goal is to remove the diseased bone marrow cells to make space for the new healthy ones to grow. It takes about two to four weeks for the new blood cells to regenerate^[10].

Bone marrow transplantation candidates are patients who are younger than age 55 years who have severe disease and a matched, related donor. With current transplant methods, most patients with severe aplastic anemia have a 60-70% long-term survival rate. Survival rates of higher than 80% are reported for patients in more favorable subgroups^[14].

Patients who are not eligible for stem cell transplant or who cannot find a suitable donor can be treated with drugs to suppress the autoimmune reaction that is damaging their bone marrow. This treatment is called immunosuppression and consists of antithymocyte globulin, cyclosporine, and steroids. Approximately 60 percent of patients respond to this treatment, often achieving long-term control of their disease^[13].

Infections resulting in low white blood cell counts should be treated as emergencies. After blood cultures and other diagnostic cultures are obtained, broad-spectrum antibiotics that cover most common bacteria should be started immediately in patients with febrile neutropenia^[14].

Living with Bone Marrow Disorders

Bone marrow failure increases the risk of other conditions and requires lifelong treatment^[2]. However, many patients lead happy, fulfilling lives by developing strategies for successfully coping with the physical and emotional aspects of living with bone marrow disorders^[19].

Making small changes in daily activities can have a big impact on how you feel. Fatigue is a big issue for many patients, so listen to your body and rest when you need to. Talk to your doctor about ways you can decrease and manage fatigue. With a bit of patience, planning, and flexibility, many patients find ways to work, travel, exercise, and do the things they loved before diagnosis^[19].

Focusing on a balanced diet can help protect your body against bone marrow disorders and treatment side effects by giving you the nutrients you need for optimal function. Getting the proper nutrients can help you maintain your body weight and prevent malnutrition, which can worsen symptoms such as fatigue, weakness, and pain perception^[20].

Exercise can be beneficial for people living with bone marrow disorders. It can help reduce pain, ease psychological distress, and help maintain physical function. You may work with your doctor to help you create an exercise plan that works for you^[20].

Caring for your body, mind, and spirit are all important when living with a chronic disease. Deciding to improve the quality of your everyday life takes planning and commitment, similar to the way you manage your healthcare and treatment^[22].