Is Myeloma Hereditary? The Facts.
Can myeloma be inherited? Dr. Irene Ghobrial, a myeloma expert and researcher, explains whether myeloma is hereditary.
What empowered patients need to know about Multiple Myeloma
This disease is a type of blood cancer that spreads through plasma cells and attacks bone marrow (the bone center). While healthy plasma cells typically help the human body to fight against infection, disease-affected plasma cells produce abnormal antibodies called M Protein.
M Protein might result in tumors or kidney damage, damaging bones and severely affecting the body’s immune system.
Multiple Myeloma is, in fact, a high level of M Protein in the human body. As Multiple Myeloma finds its roots in the body, affected plasma cells release chemicals that cause bones to dissolve. The affected area of bone is known as a lytic lesion. As it grows, plasma cells begin to seep out of bone marrow and cause more organ damage. Multiple Myeloma affects bone marrow in the spine, pelvic bones, ribs, shoulders, and hips. This disease most often affects people age 40 and older, and chances of developing it increase with age. It affects men twice as often as women. It is the second most common form of blood cancer and the first most common to affect the skeleton.
Causes of Multiple Myeloma
The actual cause of malignant (infectious) plasma cells is still unknown. Proteins produced as a result of disease cause thickening of blood and deposits of proteins in organs that can affect the functions of kidneys, immune system and nervous system. Viruses, radiation exposures, and immune disorders may also trigger the disease.
The Role of plasma cells in the body
Plasma cells are a type of white blood cell found in bone marrow. Plasma cells play an important role assisting the body to fight against external attacks. A major part of the body’s immune system, plasma cells produce disease-fighting proteins called immunoglobulins, or antibodies.
Plasma cells develop from a type of white blood cell called B cells. Plasma cells produce antibodies to fight with disease and infection. Plasma cells produce different antibodies based on different types of disease, so various antibodies are present in the human body.
What does Multiple Myeloma do to plasma cells?
In Multiple Myeloma, healthy plasma cells transform themselves into malignant plasma cells (Myeloma cells) through an intricate, multistep process. Myeloma cells produce large amounts of a single abnormal antibody called M protein. Unlike normal antibodies, M protein does not fight infection. Malignant plasma cells multiply themselves and start replacing healthy blood cells in the bone marrow, resulting in decreased numbers of red blood cells, white blood cells, and platelets.
In healthy bone marrow, another type of white blood cell known as a “B cell,” develops into an antibody-producing plasma cell when antigens enter the body. In Multiple Myeloma, DNA damage to B cells transforms normal plasma cells into malignant Multiple Myeloma cells. The cancerous cells multiply and start growing enormously thus making less room for normal plasma cells in bone marrow resultantly affecting the immune system to severe level.
How does this affect the body?
Multiple Myeloma plays the role of an enemy to the defensive system—the body’s white blood cells. As abnormal plasma cells start to replace normal cells, the reduction of healthy cells in the body causes anemia, excessive bleeding and decreased immunity. Growth of abnormal cells damages major body organs, such as the kidneys. In severe cases it causes tumors as well.
Most patients diagnosed with Multiple Myeloma have osteolytic lesions, which are weakened spots on bones. This bone destruction increases the risk of fractures. It can also lead to a serious condition called hypercalcemia (increased levels of calcium in the blood). (See “Signs and Symptoms”).
Diagnosis and risk factors of Multiple Myeloma
Researchers have made several advancements to identify how this disease develops, yet the exact cause of Multiple Myeloma remains unidentified. Genetic mutations have found to play a role in Multiple Myeloma. Genes are just like the codes, or more precisely instructions, DNA provides to form proteins. Approximately 30,000 genes make up the human genome. Each cell contains 23 pairs of chromosomes that can be read in different ways to lump together about three proteins each. Copying each cell includes generating 23 pairs of chromosomes. During this process protein formation mutations may alternate resulting in a severe effect on proteins made by genes. Such error in protein formation may cause cells to grow and divide in an unconventional manner resulting in cancerous cells.
Basic factors involved in Multiple myeloma disease, role of genetic mutation and chromosome translocations which include turning unnecessary genes on while turning off necessary genes. These translocations are observed in almost 40% of cases of Multiple Myeloma.
Specific mutations have been identified as genetic risk factors for both developing Multiple Myeloma and likelihood of early relapse. For instance, chromosome 13 is deleted in Multiple Myeloma cells in about half of all cases. Additionally, chromosomal translocations (where pieces of a chromosome are swapped, turning some genes on when they should be off and vice versa) are observed in about 40% of Multiple Myeloma cases.
Despite these known genetic risk factors, Multiple Myeloma, like all cancers, is heterogeneous, meaning each case is unique. The genetic mutations that cause Multiple Myeloma in one person often differ from those that cause it in another. In fact, MMRF initiatives such as the Multiple Myeloma Immunology Initiative study have shown that Multiple Myeloma has at least 12 different genetic subtypes, rather than a single genetic makeup.
Common sites for bone damage
Multiple myeloma affects skull bones, spine, pelvis, long bones and compression in spinal cord. This disease spreads slowly and shows its complete sign when completely takes over the major bones in the body, especially the skull bones.
In severe cases, complete vertebrae damage causes compression of the spinal cord. Loss of bone integrity can cause pathological fracture.
Mechanism of Disease
- Plasma cell proliferation: anemia, bone marrow suppression, infection risk.
- Osteoclasts : bony lesions, fractures, vertebral collapse, spinal cord compression.
- Paraprotein: renal failure.
- Hypercalcemia: thirst, drowsiness, coma, polyuria.
Signs and Symptoms of Multiple Myeloma
Based on Multiple Myeloma cases observed so far, following are the signs and symptoms of Multiple Myeloma:
- Nerve damage,
- Skin lesions (rash),
- Enlarged tongue (macroglossia),
- Bone tenderness or pain (including back pain, weakness, fatigue, or tiredness),
- Pathologic bone fractures,
- Back pain,
- Spinal cord compression,
- Kidney failure and/or other end-organ damage,
- Loss of appetite and weight loss,
- Hypercalcemia (high levels of calcium in the blood), and
- Leg swelling.
Is Multiple Myeloma hereditary?
Multiple Myeloma is not considered a hereditary disease. While in some cases Multiple Myeloma may occur due to genetic abnormality, there is no evidence that heredity plays any role in its development. Research has shown several factors may contribute towards the development of Multiple Myeloma. While researchers have indicated a very slight chance that disease could be transferred from parents to their offspring, it’s very uncommon for more than one member of a family to have multiple myeloma.
Stages of Multiple Myeloma
Progressive stages of Multiple Myeloma have been recognized as follows:
- Smoldering: Multiple myeloma with no symptoms.
- Stage I: Starts with anemia, relatively small amount of M protein, no bone damage.
- Stage II: Severe anemia and M protein as well as bone damage.
- Stage III: Huge concentration of M protein, anemia, kidney damage.
Tests types for diagnosis of Multiple Myeloma
Diagnosis includes a study of past medical history and a physical examination of the patient. Bloodwork can then check platelet counts for a drastic reduction in white blood cells. Blood chemistry tests may include tests for BUN (blood urea nitrogen), creatinine levels, or uric acid. A bone marrow biopsy and aspiration can further examine the concentration of abnormal plasma cells in bone marrow.
Urine tests check the body’s protein level. A UPEP (urine protein electrophoresis) test checks the level of M Protein in the blood. UIFE (urine immunofixation electrophoresis) identifies the type of M Proteins present in the urine.
Genetic tests can check for abnormal chromosomes and genes. Different types of tests can examine cellular health. Bone marrow cells grow to make cells divide, so dividing cells can be examined. Plasma cells proliferation can be tested to identify the rate at which cells are dividing. A large number of cells dividing is a sign that cancer is growing fast.
Imaging tests take pictures inside of the patient’s body. These tests are easy to undergo.
Bone survey imaging includes use of X-Rays to take pictures of your skeleton. As Multiple Myeloma causes major bone damage, a bone survey depicts exactly how many and which bones have been damaged due to the disease.
An MRI Scan uses radio waves and powerful magnets to scan the body. An MRI scan targets the bone marrow for observation. This type of test reveal abnormal areas in the bone marrow where the abnormal plasma cells have affected the bone marrow. This test is far better than a bone survey test, as it reveals minor details of the bone marrow.
Treatment of Multiple Myeloma
Treatment of Multiple Myeloma varies from patient to patient as cases become more and more complex. But some commonly treatment practices are explained briefly below.
Radiation therapy: Treats a small mass of affected cells. Radiation therapy normally targets the damaged part of bone (where cancerous cells have affected bone causing severe damage). Radiation therapy includes use of high energy rays to kill and stop growth of damaged cells stopping cancer growth. ERBT (external beam radiation therapy) is the most common type of therapy done.
Surgery: Involves removing or repairing of a body part. It can also fix the bones that have been damaged due to Multiple Myeloma.
Chemotherapy: Involves the use of drugs to kill the cancer cells. It kills the fast growing cells and in some cases it also damages bone marrow.
Stem Cell Transplant: Stem cell transplant replaces damaged cells in bone marrow with healthy plasma cells.
Order of Treatments: Different patients have been given different type of treatments based on type of areas affected. But the order of treatment remains the same. The initial treatment given is known as Primary Treatment, which includes the curing the cancer after the diagnosis. This treatment is also known as an Induction Treatment. the Second step is of Maintenance Treatment, which is done to keep cancer cells suppressed.
Survival chances of Multiple Myeloma patients
Statistics can be confusing because each Multiple Myeloma case varies from patient to patient.
Survival rates are measured from the first point of treatment, such as chemotherapy. In the past, patients often could not survive even beyond the first stage of treatment because when cancer cells grow fast they cause too much damage. Since 2000 the percent of patients living five years after diagnosis has been increasing considerably, for up to 50 percent of patients.
Lifestyle and diet tips for patients of Multiple Myeloma
The lifestyle advice for patients of Multiple Myeloma includes reducing or avoiding tobacco use and alcohol intake and exercising often. Patients should eat more fresh fruits and vegetables. During and after treatment severe weakness can be felt in bones and muscles which can covered by eating healthy and nutritious meals after every 2 to 3 hours. Inactive patients may start with short walks increasing the length or intensity daily until they can enjoy extended periods of movement and exercise time.
The cause of Multiple Myeloma, an infectious disease, is still unknown. Researchers have shown that disease is not hereditary disease. It is very rare that two persons in same family become affected by Multiple Myeloma. Finding a cure for Multiple Myeloma has proven very difficult.
It takes considerable time for patients to recover completely. For survivors, statistics show that damage done by this disease cannot be reversed one hundred percent. People who are 40 years old or more have fair chances of being affected by Multiple Myeloma disease. Extended research needs to be done to find the exact root cause of this disease so that upcoming generations can be saved. Survival rates are low compared to other fatal diseases.