Myelodysplastic Syndrome – Life Expectancy, Prognosis, Treatment, Symptoms


What is Myelodysplastic Syndrome?

Myelodysplastic syndrome is a group of hematological conditions resulting from the ineffective function or production of the myeloid blood cells. Formerly known as pre-leukemia, the bone marrow develops progressive failure and results in cytopenias (low blood count). About 30% of patients with MDS progress to acute myelogenous leukemia, which can occur within a few months or years from the onset of the condition.

MDS originates from a disorder in the stem cell in the bone marrow which reduces the number of blood-forming cells, resulting in impaired blood production or hematopoiesis. There is an increase in myeloblasts which are immature and unable to produce mature red blood cells. The primary manifestation of MDS is anemia due to low red blood cell production.

Classification of Myelodysplastic Syndrome

Myelodysplastic syndrome can be classified as:

  • Refractory Anemia. This involves less than 5% of myeloblasts and pathological conditions in the red blood cell precursors.
  • Refractory Anemia with ringed sideroblasts (RARS). This involves less than 5% of myeloblasts, but with greater numbers of abnormal iron-stuffed red blood cell precursors known as the ringed sideroblasts.
  • Refractory Anemia with Excess blasts (RAEB). This involves up to 20% of myeloblasts in the bone marrow.
  • Refractory Anemia with Excess Blasts in Transformation (RAEB-T). This involves 21-30% of myeloblasts in the bone marrow.
  • Chronic Myelomonocytic Leukemia (CMML). This involves less than 20% of myeloblasts with greater than 109/uL monocytes in the blood.

Some cases of MDS are difficult to classify, as in cases with neutropenia (decreased circulating neutrophils) and thrombocytopenia (decreased platelet count). The incidence of MDS increases with age. People aged 70 or over are more at risk, but some documented cases were in patients younger than 50 years of age. MDS in children is rare, and males have a higher incidence of developing MDS than females. The incidence of MDS is up to 20,000 cases per year.

History of MDS

MDS was first described as pre-leukemia in 1953. There were many terms that described MDS until 1976 when it was popularly known as myelodysplastic syndrome.
Death occurring from MDS is not directly related to the progression to leukemia, but is influenced by infections and hemorrhage, despite absence of leukemia. MDS which progresses to leukemia is also resistant to treatment.

What are the Symptoms of Myelodysplastic Syndrome?

Symptoms of myelodysplastic syndrome are related to the decreased circulating blood component levels. These include:

  • Anemia. Symptoms and signs include shortness of breath, chronic fatigue. chest pains, chillis and paleness
  • Thrombocytopenia. Symptoms and signs include increased bleeding episodes, bruising (ecchymosis), purpura (several hematoma) and petechial rash (reddish pinpoint rash on the skin)
  • Neutropenia. Symptoms and signs include increased risk of infection and sore throat
  • Hepatomegaly or splenomegaly. This is due to rapid hemolysis of the blood component, which is filtered by the spleen and liver.
  • Abnormal characteristics of blood cells. These are normally identified by examination

What Causes Myelodysplastic Syndrome?

The exact cause of myelodysplastic syndrome is not known, but several risk factors contribute to its development. Risk factors include:

  • Smoking or tobacco use.
  • Old age (more than 60 years old).
  • Exposure to radiation such as in the presence of an atomic bomb or nuclear reactors.
  • Exposure to benzene and chemicals used in the production of rubber and petroleum.
  • Previous radiation or chemotherapy and radiomimetic agents such as nitrosourea, busulfan and procarbazine.
  • Disorders such as Fanconi anemia, acquired aplastic anemia, congenital neutropenia, familial platelet disorder and Shwachman-Diamond syndrome

The disorder occurs along with the mutation of the bone marrow stem cell which causes impairment in the blood precursor cells. There is also an increased rate in apoptosis (cell death) of bone marrow cells leading to impaired blood cell production.

How to Diagnose Myelodysplastic Syndrome?

The exact diagnosis of MDS is difficult because genetic testing needs to be done to determine gene mutations. However, several general tests are normally done to determine the extent of blood cell impairment. Other causes of low blood component levels should be ruled out to diagnose MDS. These include:

  • Medical History and Physical Assessment. The complete medical history of the patient is assessed to check for any risk of development of MDS. Physical examinations are also done to assess any signs and symptoms of the disorder.
  • Complete Blood Count. The complete blood count is taken to determine levels of RBCS, hemoglobin, hematocrit, WBCs, and platelets in the blood. Specific levels of WBC type are also taken such as the neutrophils and monocytes.

Types of MDS are identified using the following indicators:

  • Refractory Anemia – there are few RBCs, but the WBC and platelets are normal
  • Refractory Anemia with ringed sideroblasts – there are few RBCs with excessive iron in them. WBC and platelets are normal.
  • Refractory Anemia with excess blasts – there are few RBCs with up to 20% of blasts in the bone marrow with normal amount of blasts in the blood. WBCs and platelets are sometimes low.
  • Refractory Anemia with excess blasts in transformation – there are few RBCs, platelets and WBCs in the blood. Up to 30% of bone marrow cells and more than 5% of blood cells are blasts.
  • Unclassifiable MDS – there are few blood cells in the blood, the level of blasts is normal and the condition is not characterized as MDS syndrome.
  • Bone marrow aspiration – Samples of the bone marrow are collected using a long-thin needle on the pelvis or breastbone of the patient. The samples are subjected to biopsy or cytogenetic analysis.
  • Biopsy – The bone marrow cells are examined to determine any cellular aberrations or changes. The common finding is a dysplasia of the bone marrow cells.

Myelodysplastic Syndrome biopsyBiopsy procedure



Source – cancer.gov

  • Cytogenetic Analysis – Sample bone marrow cells are examined under a microscope to check the chromosome and cell characteristics.
  • Peripheral blood smear – This involves the checking of the shape, size and iron-loading of the red-blood cells. Certain types of MDS show excessive iron in the red blood cell precursors.
  • Tests for other causative factors of anemia – Diagnostic tests for renal failure, vitamin B deficiency, hepatitis, lupus, heart failure, HIV and hemolytic anemia are done to determine if the anemia is caused by other factors or by MDS.

How to Treat Myelodysplastic Syndrome?

Treatments for MDS is focused on alleviating the symptoms, improving survival rate and preventing progression to acute myelogenous leukemia. These include:

Chemotherapy

Chemotherapy is administered with hypomethylating agents to reduce the DNA methylation that causes abnormal and excessive production of blood cell components. Chemotherapeutic drugs include 5-azacytidie, Lenalidomide and Decitabine. These drugs are expensive averaging $9,000 per month of therapy. Chemotherapy with these agents may lessen requirements for blood transfusions and may increase the life expectancy of clients with MDS.

Stem Cell Transplantation

Bone marrow transplantation is done to replace the non-functional stem cells that produce abnormal blood components. Bone marrow transplantation is done with severe forms of MDS. Stem cells are usually taken from compatible donors.

Blood transfusions

Transfusions with blood components are essential to normalize the blood component levels in the body. Anemia may require RBC transfusions and thrombocytopenia with platelet transfusions. Blood transfusions should be monitored because frequent transfusions may lead to iron overload.

Iron Chelation Therapy

Patients with high iron levels in the blood may be treated with deferoxamine (IV) or deferasirox (oral) to decrease iron overload.

Prognosis

The prognosis of MDS depends on the type. Refractory anemia and RARS have the best prognosis among possible MDS types. Patients with these types of MDS may live up to one more decade, even without transplantation. The worst prognosis is from RAEB-T which has a life-expectancy of less than 1 year upon diagnosis. Patients with RAEB-T may also progress to having acute myelogenous leukemia.

Prognosis also depends on the following factors:

Good prognosis factors

  • Younger patients
  • Moderate neutropenia
  • Moderate thrombocytopenia
  • Low blasts count in the bone marrow (less than 5%)
  • No blasts in the blood

Poor prognosis factors

  • Old age
  • Severe thrombocytopenia and neutropenia
  • High levels of blasts in the bone marrow and in the blood
  • Abnormal karyotypes or chromosomal abnormalities

Life Expectancy and Survival Rate

The life expectancy of patients with MDS also depends on the type of MDS. The mean life-expectancy is 18 to 24 months in mild cases of MDS or longer when stem cell transplantation is done. Mild cytopenias, low blasts and normal chromosomes have this range of life-expectancy. On the other hand, patients with severe cytopenias, chromosome abnormalities and high blast levels in the bone marrow and blood have a mean survival time of 6 to 12 months. There is a low survival rate of MDS, and patients may only live up to a maximum of 10 years when treatments are instituted.

Complications

Complications of MDS may result, such as:

  • Iron overload. Patient receiving frequent blood transfusions due to anemia and cytopenias may develop iron overload.
  • Severe anemia. This is the most common complication of MDS due to decrease in RBC production rate.
  • Infection. This is the most common reason for death among MDS patients. This results from low WBC count which decreases the immune system.
  • Hemorrhage. This results from low platelet count in the body which reduces the blood clotting mechanism.
  • Leukemia. Severe types of MDS can progress to acute myelogenous leukemia over a period of months or years.

Prevention

Although there is a big genetic predisposition to MDS, some risk factors can be avoided to help prevent the disease. These include:

  • Avoiding too much radiation exposure.
  • Wearing personal protective equipment in factories to prevent exposure to chemicals.
  • Stopping smoking and tobacco use, and avoiding other forms of carcinogens.

The Role of Genetics

Researchers have indicated that there is a loss of mitochondrial function and accumulation of DNA mutations in the stem cells of the bone marrow. The mutation occurs specifically in the gene U2AF1. The role of genetics has led to the use of DNA methyltransferase inhibitors which improves the DNA methylation profile of the bone marrow stem cells. Loss of DNA methylation results in abnormal and uncontrolled cell growth. Inhibiting its dysfunctional DNA methylation by the DNA methlytransferase inhibitors restores normal blood cell production and prevents progression to leukemia.

Also read – What New Research Studies Have to Say About Myelodysplastic Syndrome?

Edited and proofreading done by Chris

 



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22 Responses to “Myelodysplastic Syndrome – Life Expectancy, Prognosis, Treatment, Symptoms”

  • Annare says:

    Myelodysplastic disorder is usually acquired from intake of chemotherapeutic drugs. It is essential to talk with your physician on the goals of your therapy as well as providing you with adequate dosage of chemotherapeutic drugs in order to prevent severe affections of the bone marrow. One of my patient experienced myelodysplastic disorder and after blood transfusions, he recovered completely.

    • Dr. Maz says:

      Yes Annare, although there is a low survival rate of myeodysplastic syndrome, some patients may recover. However, you should still constantly check the blood levels of your patient because the improvement in the blood components after blood transfusions may only be temporary.

    • SHOULTZ says:

      Blood transfusions are mostly just bandaods for those with MDS.
      DANGER: Iron overd, AIDS, Infections ect.
      PLUS- Christians with a deent comprehension of the lord God Almighty’s view of BLOOD abstain from blood intake in any form.

  • Santhosh says:

    Hi,
    My mother has beem diagnosed with mds refractory anaemia, she is 63, diabetic for 20 yrs, but never had any radiation /chemo therapy or exposure to benzene. Why did this happen to her? Is stem cell transplant an option to increase the life expectancy or is it ruled out because of age factor? Pls advise.
    Thanks,
    Santhosh

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  • swarnlata says:

    my mother has MDS of RAEBII, She has been given chemotherapy of Decitabine 35 mg for 5days/ cycle for a period of 6 months. Previously her cytogenetic report show 20q deletion of 30%. Now after diagnosis her cells become normal i.e 20q deletion 100%. But still her Hb was not good, it is stable up to 8.0 even 6 units of tranfusions given after each cycle( Initial it was 5.2),. We are confused whether she has been recovered or this is a temporary situation. Please suggest what care should be taken or is there need for firther treatment.Her age is 57.

  • Tracey says:

    What are the patients symptoms close to death and how can you tell? with Myelodysplastic Syndrome.
    My father is 75, and is having blood and platelet transfusions, loosing weight, and has bled from the bum and nose.
    Thank you

  • jo says:

    Is myelodysplastic something our parent can Pass on to us children

  • Zyg says:

    I have Myelody Splastic Syndrome -refractory anemia with ringed sideroblast .It is difficult health and medical world can not help us.

  • Yvonne says:

    What is Myelodysplastic Syndrome… This, I found when my father was diagnosed with it, is a VERY COMMON “Syndrome” in the elderly. My father never had Chemotherapy, he was never sick in his life in any serious manner. He was a social drinker, and he was no longer the smoker he had been for many years earlier. I have heard people say (in the beauty shop, for instance).. I have Myelodysplastic Syndrome and they have no idea that they will die from this disease! Their Dr. has not told them the severity or the nature of the disease. My father was anemic, he was so tired he could no longer function. He had several blood transfusions, after trying some “new” shots that help to boost red blood cell production and give patients with this disease a reprieve from the most extreme symptoms. My father died five years ago. He essentially bled to death internally. Bone marrow no longer works, liver no longer works as it should, and blood transfusions can cause clotting problems. Only the younger patients have a chance with a bone marrow transplant, this is not offered to the elderly patient. This disease changes or mutates into a Leukemia after a few years.. there are many details, books, information available from the LLS (Leukemia and Lymphoma Society) and it tells you something that this is where you find information on Myelodysplastic Syndrome. Here is a website: (please if you or your loved one have this, look it up, read about it, and see a Hemotologist/Oncologist asap. God Bless.
    http://www.lls.org/diseaseinformation/myelodysplasticsyndromes/

    • nanette blackwood says:

      Thank you yvonne.. my mum has this too, we find it difficult to get informaton and we get conflicting views from the doctors (however nice they are) I would like some direct information on how far this has progressed as i feel this would help. On reading your post i think it will help me ask some direct questions so thank you.. sorry about your Dad im sure you miss him loads take care.. nanette

  • joe eaton says:

    what should I not do tohelp myself

  • John Connolly says:

    Was diagnoised with MDS in June. Routine blood test showed low counts, wound up in hospital when they hit 4.0. Felt better after getting blood, but bone marrow test confirmed MDS. Will be getting Stem cell transplant in Oct. @Nanette:Your Moms age and health would determine if able to get a SCT. A bone marrow biopsy should be able to tell how far the MDS has progressed. Hope this little bit helps.

  • kim harrison says:

    I h ave been diagnosed with mds and even mylo fibrosis. I will be treated with chemo and shots of nupragen (sp.)? They said that hopefully I can do this for 3-5 years and then after I will have to have a bone marrow transplant. I was wondering is this common practice and why not do the transplant now at age 52 with good health instead of waiting till I am 58?

  • Angie says:

    My daughter has mds chemo and bonemarrow transplant from me 50 percent match donor she just turned 4 I’m not reading anything about children I honestly don’t understand all this It seems the rare condition at this point just buys time no cure :(

  • Robert Sprankle says:

    Is O2 useful in the treatment of MDS? 20% of the surface area of a red blood cell absorbs O2, 80% is displaced by inert nitrogen, N2. Would O2 therapy increase the oxygen capacity of the cell and slow the loss of cells between blood transfusions?

  • Diabetes Complication Mds Disease And Life Expectancy | Diabetes Reversed says:

    […] Myelodysplastic Syndrome – Life Expectancy, Prognosis … – What is Myelodysplastic Syndrome? Myelodysplastic syndrome is a group of hematological conditions resulting from the ineffective function or production of the …… […]

  • Emma R Campana says:

    Had MDS for about 9 months and being with Procrit maybe all may praying will help me to survive God bless to all


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