Initial stages of MDS may be characterized by macrocytic anemia with mild thrombocytopenia or neutropenia. Patient may present with fatigue and malaise, two features of anemia. When the levels of platelets fall, petechiae, ecchymoses, epistaxis and gum bleeding may result. With bacterial or fungal infections the patient may have fever, cough, dysuria or shock as clinical manifestations. Some patients may develop hemoptysis, hematuria or have blood in stools. Severe cases of anemia may manifest as tachycardia and congestive heart failure. Enlarged spleen is characteristic of chronic myelomonocytic leukemia. This may lead to rupture and intraabdominal bleeding. Neutropenia may lead to fever and infections including pneumonia and urinary tract infections.

• Splenomegaly

  Rare splenomegaly Prominent splenomegaly Does not meet criteria for MDS or PV Commonly multilineage dysplasia and increased blasts History of polycythemia vera Myelofibrosis grade 2-3 and cytogenetic abnormalities are common in all three Non-neoplastic [surgpathcriteria.stanford.edu]

  Therapy with granulocyte-colony stimulating factor (G-CSF) and granulocyte-monocyte-colony stimulating factor (GM-CSF) caused splenomegaly and severe thrombocytopenia, which recurred upon rechallenge. [ncbi.nlm.nih.gov]

  Later symptoms include enlargement of the liver (hepatomegaly), enlargement of the spleen (splenomegaly), and swelling of the lymph nodes (lymphadenopathy). [stanfordhealthcare.org]

  Splenomegaly may lead to splenic rupture and intraperitoneal haemorrhage. Myelodysplastic syndrome prognosis The natural course of MDS is very variable, depending on several factors, including cytogenetics and severity of cytopenia. [patient.info]

• Easy Bruising

  If you have symptoms, they may include: Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare [medlineplus.gov]

  If you have symptoms, they may include Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare [nlm.nih.gov]

  The resulting deficiencies of platelets and red and white blood cells cause anemia, susceptibility to infections, and easy bruising and bleeding. [clinicaltrials.gov]

  "Patients feel fatigued because they are anemic (low red cells), they can have easy bruising or bleeding due to low platelets, and they may have frequent fevers or infections as a result of low numbers of infection-fighting cells." [foxnews.com]

  Thrombocytopenia is a condition when there is a low number of platelets which can cause bleeding and easy bruising with no apparent cause. Pancytopenia is a condition when all three types of blood cell counts are low. [lls.org]

• Anemia

  Less than 5% of people will have a low white blood cell count or platelet count without anemia. Symptoms of anemia include, pale skin or mucous membranes (i.e. gums), generalized fatigue, chest pain, and dizziness. [oncolink.org]

  Reportable disorder s include: MDS, refractory anemia, refractory anemia with excess blasts in transformation, refractory anemia with ring sideroblast s, refractory anemia with excess blasts, chronic myelomonocytic leukemia and acute myeloid leukemia. [seer.cancer.gov]

  Copper deficiency is a recognized but often overlooked cause of anemia and neutropenia. We began checking serum copper levels on patients referred for evaluation for unexplained anemia and neutropenia or myelodysplasia. [ncbi.nlm.nih.gov]

  Refractory anemia with ringed sideroblasts (RARS) 1 10-35 34-83 10-35 Refractory anemia with excess blasts (RAEB) 5-20 >50 8-18 25-30 Refractory anemia with excess blasts in transformation (RAEB-T) > 5 21-29 60-100 4-11 10-30 Chronic myelomonocytic leukemia [web.archive.org]

• Weakness

  Symptoms are referable to the specific cell line most affected and may include fatigue, weakness, pallor (secondary to anemia), increased infections and fever (secondary to neutropenia), and increased bleeding and bruising (secondary to thrombocytopenia [msdmanuals.com]

  If you have symptoms, they may include: Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare [medlineplus.gov]

  Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches.[1][2] In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia [rarediseases.info.nih.gov]

  Within several months, the patient's peripheral blood cell counts had normalized; within 6 months, her weakness had resolved. A diet low in copper may have been contributory. [mayoclinicproceedings.org]

• Fatigue

  Symptoms are referable to the specific cell line most affected and may include fatigue, weakness, pallor (secondary to anemia), increased infections and fever (secondary to neutropenia), and increased bleeding and bruising (secondary to thrombocytopenia [msdmanuals.com]

  Your doctor also works with you on lifestyle and dietary changes that can reduce your chronic fatigue and help you stay more active. [wellnessoncology.com]

  Signs of thrombocytopenia include: Bleeding easily, especially from the nose and gums Bruising easily Other symptoms may include loss of appetite, weight loss, and extreme fatigue. Your doctor will ask about your symptoms and medical history. [health.cvs.com]

  Signs and symptoms include: Low red blood cells counts, causing fatigue and shortness of breath Abnormal white blood cells called neutrophils, which kill germs poorly, resulting in infection with bacteria, fungi or atypical mycobacteria (relatives of [ucsfhealth.org]

  He required a wheelchair for community mobility because of complaints of fatigue and upper extremity discomfort. He was introduced to the SFOS and became a functional community ambulator, reporting greater walking endurance and decreased pain. [ncbi.nlm.nih.gov]

• Fever

  Symptoms are referable to the specific cell line most affected and may include fatigue, weakness, pallor (secondary to anemia), increased infections and fever (secondary to neutropenia), and increased bleeding and bruising (secondary to thrombocytopenia [msdmanuals.com]

  Some problems with ATG are: Serious allergic reaction Low blood pressure Trouble breathing Fever Headache Belly pain Muscle aches Nausea Diarrhea Some problems with cyclosporine are: Headache Fever Nausea or vomiting Higher than normal blood pressure [winchesterhospital.org]

  An 18-month-old boy presented with fever, hepatosplenomegaly, jaundice, pancytopenia, hyperferritinemia, hypertriglyceridemia and evidence of hemophagocytosis and trilineage myelodysplasia in the bone marrow aspiration. [ncbi.nlm.nih.gov]

  If you have symptoms, they may include: Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare [medlineplus.gov]

  Indications for haematological evaluation in our patients were symptoms and signs of isolated or combined cytopenias, fever of unknown origin and frequent infections. [pesquisa.bvsalud.org]

• Pain

  We describe an unusual case of Philadelphia-positive, monosomy 7 myelodysplasia progressing to acute myeloid leukaemia in a 53 year old male who presented with bone-pain and B-symptoms and was found to have diffuse osteolytic lesions. [ncbi.nlm.nih.gov]

  Some problems with epoetin are: Cough, sneezing, or sore throat Fever Swelling of face, fingers, ankles, feet, or lower legs Weight gain High blood pressure (not common) Some problems with filgrastim are: Headache Pain in arms or legs Pain in joints or [winchesterhospital.org]

  Bone pain If MDS becomes severe, it can cause bone pain. MDS is caused by defective bone marrow stem cells. Bone marrow is the material found inside your bones. It’s where your blood cells are made. [healthline.com]

  What is the difference between ache and pain? A continuous or prolonged dull pain in some part of one's body is called an ache. An ache is a uncomfortable feeling that you can handle can be relieved with painkillers. [answers.com]

• Cough

  Signs of this condition include: Fever Cough Frequent, unusual, or especially serious infections Thrombocytopenia occurs when there are inadequate levels of platelets in the blood. Platelets stop bleeding by clotting the blood. [health.cvs.com]

  Some problems with epoetin are: Cough, sneezing, or sore throat Fever Swelling of face, fingers, ankles, feet, or lower legs Weight gain High blood pressure (not common) Some problems with filgrastim are: Headache Pain in arms or legs Pain in joints or [winchesterhospital.org]

  Patients with neutropenia may be susceptible to skin infections, sinus infections (symptoms include nasal congestion), lung infections (symptoms include cough, shortness of breath), or urinary tract infections (symptoms include painful and frequent urination [mds-foundation.org]

• Hemoptysis

  Some patients may develop hemoptysis, hematuria or have blood in stools. Severe cases of anemia may manifest as tachycardia and congestive heart failure. Enlarged spleen is characteristic of chronic myelomonocytic leukemia. [symptoma.com]

  Hemoptysis, hematuria, and blood in stools may occur. Pallor of the skin and mucosal membranes or evidence of fatigue, tachycardia, or congestive heart failure may be manifestations of severe anemia. [emedicine.medscape.com]

• Blood in Stool

  Some patients may develop hemoptysis, hematuria or have blood in stools. Severe cases of anemia may manifest as tachycardia and congestive heart failure. Enlarged spleen is characteristic of chronic myelomonocytic leukemia. [symptoma.com]

  Hemoptysis, hematuria, and blood in stools may occur. Pallor of the skin and mucosal membranes or evidence of fatigue, tachycardia, or congestive heart failure may be manifestations of severe anemia. [emedicine.medscape.com]

• Palpitations

  Symptoms range from mild to severe and may include: fatigue and a lack of energy lightheadedness pale skin heart palpitations shortness of breath chest pain Anemia is a very common blood disorder that many factors can contribute to. [medicalnewstoday.com]

  In moderate anemia, almost all patients experience some fatigue, which may be accompanied by heart palpitations, shortness of breath, and pale skin. [mds-foundation.org]

  Anemia causes tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, palpitations, headaches, and pale skin color. [rarediseases.org]

• Tachycardia

  Look for other clinical evidence of anaemia, such as cardiac failure or tachycardia. Examine the mouth for evidence of anaemia and infections such as candidiasis. Splenomegaly and lymphadenopathy are uncommon[2]. [patient.info]

  When erythrocytes are affected (the most common situation), patients present with signs of anemia, including pallor, pale conjunctiva, tachycardia, hypotension, fatigue, headache, and exercise intolerance, or with signs and symptoms of a worsening underlying [mdedge.com]

  Severe cases of anemia may manifest as tachycardia and congestive heart failure. Enlarged spleen is characteristic of chronic myelomonocytic leukemia. This may lead to rupture and intraabdominal bleeding. [symptoma.com]

  Pallor of the skin and mucosal membranes or evidence of fatigue, tachycardia, or congestive heart failure may be manifestations of severe anemia. [emedicine.medscape.com]

• Heart Disease

  Disease, Disorders Of The Gastrointestinal System, And more! [brainscape.com]

  “It was known as a rare blood disease.” After beginning a regimen of low-dose aspirin to stave off heart disease, Zumbiel began to notice large bruises on her legs and thought the aspirin might be thinning her blood too much. [curetoday.com]

  […] formation, and their germ line mutations and common variants are associated with congenital heart disease. 16 Notably, rare variants of GATA5 occur more commonly among a subset of patients with congenital heart disease who have DS. 17 The identification [doi.org]

  Autoimmune diseases, although not very common, complicate the course of myelodysplasias. The most common autoimmune diseases are: Chronic rheumatic heart disease, Rheumatoid arthritis, Pernicious anemia, Psoriasis, Polymyalgia rheumatica. [lecturio.com]

  Rare Diseases 0 0.5 1 1.5 2 2.5 3 3.5 Milions Affected Cancer Diabetes Heart disease Rare Diseases1.4 M 2.8 M 2.4 M 1.8 M (millions) 4 5. 5 Now is the Time for a Rare Disease Strategy — Rare disease is a Major Public Health Issue — RD Patients rarely [slideshare.net]

• Bleeding Gums

  or experiences bleeding gums. [medicalnewstoday.com]

  Bleeding easily Low platelet levels can cause you to bleed easily, even after just a minor bump or scrape. You may also experience spontaneous nosebleeds or bleeding gums, especially after dental work. 4. [healthline.com]

  Bruising or bleeding easily as a result of having insufficient normal blood platelets (thrombocytopenia). Some people may experience frequent nosebleeds or bleeding gums. MDS is diagnosed through a blood test and bone marrow biopsy. [parkwaycancercentre.com]

  Common types of bleeding include nosebleeds, bleeding gums, pinpoint red bleeding spots on the skin (petechiae), and blood in the stool. Women also may have heavy menstrual bleeding. [web.archive.org]

• Arthralgia

  […] syndrome Additional pediatric entity of refractory cytopenia of childhood is recognized Bilineage dysplasia Clinical Presentation May be asymptomatic Most common symptoms Pallor, weakness, exertional dyspnea – secondary to anemia Hepatomegaly/splenomegaly Arthralgias [arupconsult.com]

  The patient's medical history was significant for a three-year history of an uncharacterized rheumatologic illness marked by myalgias, arthralgias, two episodes of iridocyclitis, and a positive anti-nuclear antibody titer of 1:160, which had responded [casesjournal.biomedcentral.com]

• Petechiae

  Signs Examination should seek evidence of petechiae and ecchymoses (check under waistbands of clothing or other pressure points). Inspect conjunctivae to look for evidence of anaemia. [patient.info]

  BACKGROUND: Relatively minor bleeding (e.g., bruising and/or petechiae) may cause patient distress. [ncbi.nlm.nih.gov]

  Thrombocytopenia typically manifests as petechiae or ecchymoses; epistaxis and gum bleeding suggest severe thrombocytopenia. Hemoptysis, hematuria, and blood in stools may occur. [emedicine.medscape.com]

  […] paleness (pallor), which occurs due to a low red blood cell count (anemia) Easy or unusual bruising or bleeding, which occurs due to a low blood platelet count (thrombocytopenia) Pinpoint-sized red spots just beneath the skin that are caused by bleeding (petechiae [mayoclinic.org]

• Night Sweats

  Signs of transformation to a more aggressive lymphoma include worsening constitutional symptoms (weakness, fatigue, fever, weight loss, night sweats); rapidly enlarging lymph nodes, liver, and spleen; signs of disease outside the bone marrow; and profound [iwmf.com]

  Patients with leukemia may have frequent infections, anemia, bleeding, bruising, night sweats, and bone and joint pain. The spleen that normally filters the blood and gets rid of old cells, may become enlarged. [news-medical.net]

  Case presentation A 46-year-old woman of Ethiopian descent presented to our emergency department with 3 weeks of worsening non-productive cough, dyspnea, fever, chills and night sweats. [casesjournal.biomedcentral.com]

  However, common constitutional symptoms include anorexia, weight loss, and night sweats. 10 The WBC and platelet counts might increase initially but typically decrease as the disease progresses. [clevelandclinicmeded.com]

• Eczema

  In medical terms, it is known by many names like “Varicose eczema”, “Congestion eczema,” “Stasis eczema,” “Gravitational dermatitis” and “Gravitational eczema”. [hxbenefit.com]

• Epistaxis

  THREAT helps to identify epistaxis patients requiring blood transfusions. Murer K, Ahmad N, Roth BA, Holzmann D, Soyka MB. Murer K, et al. J Otolaryngol Head Neck Surg. 2013 Jan 31;42(1):4. doi: 10.1186/1916-0216-42-4. [pubmed.ncbi.nlm.nih.gov]

  Symptoms and Signs Symptoms of myelodysplastic syndrome tend to reflect the most affected cell line and may include pallor, weakness, and fatigue (anemia); fever and infections (neutropenia); and increased bruising, petechiae, epistaxis, and mucosal bleeding [merckmanuals.com]

  Fewer than 20% of patients present with symptoms of isolated thrombocytopenia such as minor bleeding (eg, mucosal bleeding, petechiae, easy bruising, epistaxis) or major bleeding (eg, gastrointestinal bleeding, intracranial hemorrhage) or of isolated [mdedge.com]

  When the levels of platelets fall, petechiae, ecchymoses, epistaxis and gum bleeding may result. With bacterial or fungal infections the patient may have fever, cough, dysuria or shock as clinical manifestations. [symptoma.com]

• Hematuria

  She died of hematuria at 51 years of age. The proband's parents were clinically unaffected and had no hematologic abnormalities. [omim.org]

  Some patients may develop hemoptysis, hematuria or have blood in stools. Severe cases of anemia may manifest as tachycardia and congestive heart failure. Enlarged spleen is characteristic of chronic myelomonocytic leukemia. [symptoma.com]

  Hemoptysis, hematuria, and blood in stools may occur. Pallor of the skin and mucosal membranes or evidence of fatigue, tachycardia, or congestive heart failure may be manifestations of severe anemia. [emedicine.medscape.com]

• Dysuria

  With bacterial or fungal infections the patient may have fever, cough, dysuria or shock as clinical manifestations. Some patients may develop hemoptysis, hematuria or have blood in stools. [symptoma.com]

  Fever, cough, dysuria, or shock may be manifestations of serious bacterial or fungal infections in patients with neutropenia. [emedicine.medscape.com]

Bone marrow studies and a complete blood count including differential and peripheral blood smear are the diagnostic tests used in MDS. Disease is staged for assessing prognosis and also for planning treatment modality. Peripheral blood smear may show single cytopenia in the early stages which may develop into dicytopenia or pancytopenia in the later stages. Dysplastic changes and hypercellular marrow can be noted in histologic tests. Anemia and neutropenia may be mild or severe. Granulocytes show morphological changes with absence of granules or presence of Dohle bodies. Platelet counts may be considerably decreased. Bone marrow changes include hypercellularity with dysplastic changes. Increased marrow fibrosis is also noted. Erythroid cell precursors show multinuclearity. Cytogenetic studies enable to work out the chromosomal changes. This is significant considering the fact that primary MDS patients have very high rate of chromosomal abnormalities.

Staging of MDS is based on the International Prognostic Scoring System (IPSS). Percentage of myeloblasts is the first prognostic factor and this is evident in bone marrow study. Presence of cytopenias is the next factor, followed by karyotype.

• Cytopenia

  There may be cytopenias affecting the other cell lines: there may be neutropenia, thrombocytopenia, neutrophilia, monocytosis, thrombocytosis. [patient.info]

  At least one lineage cytopenia At least 2 lineages with dysplasia Rare blasts ( Refractory Anemia with Excess Blasts 1 Cytopenias Dysplasia 5-9% blasts (no Auer rods) Refractory Anemia with Excess Blasts 2 Cytopenias Dysplasia 5-19% blasts 10-19% blasts [clinicaladvisor.com]

  These myelotoxic insults lead to secondary dysplasia and cytopenias. [cancertherapyadvisor.com]

  MDS-RS and multilineage dysplasia: 2 - 3 dysplastic lineages, 1 - 3 cytopenias MDS with single lineage dysplasia: 1 dysplastic lineage, 1 - 2 cytopenias Blasts < 5% BM, < 1% PB, no Auer rods Does not meet criteria for MDS-RS or MDS with isolated del [pathologyoutlines.com]

  Generally a diagnosis requires cytopenias and dysplasia in at least one lineage involving >10% cells with evidence of clonality (see full classification for complete diagnostic criteria) ICUS – idiopathic cytopenia of indeterminate significance – cytopenias [blooducation.co.uk]

• Leukopenia

  Serum copper determination should be included in the work-up of patients with anemia and leukopenia of unclear etiology who have associated myeloneuropathy. The hematologic picture can resemble sideroblastic anemia or myelodysplastic syndrome. [ncbi.nlm.nih.gov]

  Non-reportable disorder s include: Anemia, leukopenia and thrombocytopenia. [seer.cancer.gov]

  Over time, people with MDS have more abnormal blood cells than healthy ones, which can lead to conditions such as anemia, leukopenia (a drop in white blood cell count), and thrombocytopenia (a drop in platelet count). [utswmed.org]

  Over time, there are more immature, defective cells than healthy ones, leading to problems such as fatigue caused by too few healthy red blood cells (anemia), infections caused by too few healthy white blood cells (leukopenia) and bleeding caused by too [mayoclinic.org]

• Macrocytic Anemia

  Medical Importance The myelodysplastic syndromes are clonal hematopoietic disorders that commonly cause macrocytic anemia in older patients. [hematology.org]

  anemia (rarely microcytic) of refractory type (refractory anemia) Other possible findings Leukocytopenia and/or thrombocytopenia Nucleated RBCs, ringed sideroblasts, Howell-Jolly bodies, basophilic stippling Neutrophils with hypolobulated nuclei Large [amboss.com]

  anemia with increased red cell distribution width (RDW) and low / normal reticulocyte count; variable neutropenia or thrombocytopenia Mean survival : refractory anemia - 10 years, refractory anemia with ringed sideroblasts - 7 years; RA with multilineage [pathologyoutlines.com]

  The deletion 5q syndrome is a unique form of myelodysplastic syndrome, occurring primarily in women in whom macrocytic anemia and thrombocytosis are typically present. Anemia in deletion 5q syndrome appears to be responsive to lenalidomide. [merckmanuals.com]

• Pelger-Huet Anomaly

  Neutrophil nuclei can show hypolobation (pseudo-Pelger-Huet anomaly) or hyperlobation. Platelets may be large or agranular. Red cell morphology in the peripheral blood may be normal or macrocytic with anisopoikilocytosis. [clinicaladvisor.com]

  Very abnormal nuclei, such as Pelger-Huet anomalies and hypo- or hypergranulation, and ring shaped nuclei in neutrophils. [intechopen.com]

• Anisopoikilocytosis

  A blood smear examination revealed significantly large numbers of schistocytes and marked anisopoikilocytosis. [jstage.jst.go.jp]

  Red cell morphology in the peripheral blood may be normal or macrocytic with anisopoikilocytosis. Because MDS is a clinicopathologic diagnosis without pathognomonic findings, it is crucial that other causes of cytopenias and dysplasia be excluded. [clinicaladvisor.com]

The main treatment strategy for MDS is supportive therapy, with transfusion of deficient cells, and treatment of infections. In patients with acute leukemia or increasing myeloblasts, chemotherapy is recommended. Combination of cytarabine and anthracycline gives a good response rate of 30 to 40%. Azacytidine and lenalidomide is also approved in the treatment of MDS.

Supportive therapy helps to replace cells that are undergoing cell death. RBC transfusion is suggested for patients with moderate to severe form of anemia. To avoid transfusion-induced iron overload, iron chelation therapy may be required in patients receiving multiple RBC transfusions. In thrombocytopenia, platelet transfusion is found to be beneficial. Antithrombolytic agents are effective in stopping skin and mucosal bleeding.

In late stages of MDS and also in patients with poor prognosis, bone marrow transplantation may be suggested. This is usually done in patients below 55 years of age when they have an available, matching donor. But as the condition is mostly seen in patients who are above 60 years, this procedure is limited.

MDS may progress very slowly in many patients. Cytopenia and other complications like hemorrhage and infection are the main cause of mortality. In some patients the disease may be more aggressive and develop into AML. Subgroups of MDS with less than 5% myeloblasts have a prolonged clinical course. It very rarely progresses to AML. As the amount of myeloblasts increase, clinical course becomes shorter in duration and mostly develop into acute leukemia [9]. A prognostic scoring system is available for MDS based on three major variables – karyotype, number of cytopenias, and percentage of bone marrow blasts [10]. 

Based on the cause of the disease, MDS is classified into primary or idiopathic, and secondary MDS. About 80% of the cases of MDS do not have a definite, underlying cause and are referred to as primary MDS. Secondary MDS develops after exposure to sources that damage chromosomes. Patients undergoing radiotherapy or chemotherapy have an increased chance of developing MDS 5 to 7 years after exposure due to chromosomal abnormalities. MDS may develop within 2 to 3 years after treatment with anthracyclines and etoposides. Insecticides, weedicides, and fungicides may also cause this syndrome [3]. Certain chemicals like benzene are also associated with the development of MDS. Some of the congenital platelet disorders may increase the risk of this syndrome. Certain viral infections, genetic constitution and treatment for autoimmune conditions may also trigger MDS or AML [4].

Cytogenetic testing shows that patients with MDS may have:

• Normal chromosomal structure
• Chromosomal abnormalities due to translocation 
• Complex karyotypes

About 30% of the patients with primary MDS have complex karyotypes. About half of the patients who develop secondary MDS after radio- or chemotherapy also show complex karyotypes. This complexity is a bad prognostic factor in the treatment of MDS or AML. Translocation abnormalities may result in oncogenes which play a very important role in the development of this syndrome. Advanced age and male gender are also common risk factors in this syndrome [5].

One of the studies shows that about 13,000 new cases of MDS are reported each year in the US. Prevalence of MDS is around 35,000 to 55,000 cases in US and is similar in different parts of Europe as well. The median onset of the syndrome is around 70 years, but the condition may also be found in children. About 86% of the patients are above 60 years of age. Incidence of the syndrome increases with age with the risk increasing approximately five fold between 60 to 80 years. MDS is more common among males than in females with male-to-female ratio of 4.5:2.7 [6]. As the population of elderly people increases, prevalence also shows an increase. The disease is more prevalent in white people when compared to other groups [7].

Development of MDS is a multistep process and includes changes in the hematopoietic stem cells, the bone marrow, and the interaction between the two. A number of theories are implicated in the pathogenesis of this syndrome:

• Cellular damage 
• Genetic alterations
• Changes in bone marrow
• Dysregulation of immune system
• Changes in cell cycle regulation

Cellular aging and environmental exposures are presumed to accumulate DNA damage. The genetic mutations resulting from the two lead to clonal expansion and then MDS. Prior treatment with chemo- or radiotherapy brings about genetic alterations that primarily include MLL gene. Increased apoptosis and decreased cellularity are two features in elderly people that predispose them to MDS. Genetic alterations result in loss of micro-RNA that contributes to clonal expansion and also thrombocytosis [8]. Inhibition of tumor suppressor genes may induce apoptosis while inhibiting angiogenesis.

Cell apoptosis causes cytopenia during the early stages of the syndrome. Further gene mutation may add on to the existing genetic alterations and leads to clonal development. In addition to the structural changes in the DNA, alterations in gene expression also lead to epigenetic modifications. Many genes involved in tumor suppression, cell death, cell growth, cell differentiation, and cell cycle control, are silenced by these modifications. These aberrant gene expressions are involved in development of MDS. Increased cytokine levels promote apoptosis, characteristic of early stages of MDS. Changes in cellular signaling pathways lead to abnormal differentiation and growth of cells. Immune dysregulation may result in increased T cells which launch an attack on hematopoietic stem cells.

As the exact cause of the syndrome is not known, there are no methods available to prevent the development of the disease. Quitting smoking may be helpful in reducing the risk of MDS as in the case of cardiac diseases. Avoiding dangerous chemicals is another method to reduce the risk of developing this syndrome. Those who have serious cancers may have to undergo chemo- or radiotherapy which might increase the risk of MDS at a later stage.

Myelodysplasia, or myelodysplastic syndrome (MDS), is a group of acquired clonal disorders characterized by dysmyelopoiesis and cytopenias [1]. Abnormal hematopoiesis may affect erythrocytes, granulocytes and megakaryocytes. Patients with this condition are at an increased risk of anemia, infection, and hemorrhage. This clonal disorder may progress to acute myelogenous leukemia (AML) in some patients.

About 75% of the patients with MDS are above 60 years, but it may develop in childhood also. MDS may also occur after exposure to chemotherapy or radiotherapy. As the disease may progress to AML, it is considered to be a premalignant condition. Clinical course of the disease is highly variable. In most of the cases, a clear etiological factor cannot be identified. Treatment is often individualized after assessment of prognosis [2].

Myeloplasia, also known as myelodysplastic syndrome (MDS), refers to a group of disorders that arise due to the damage in the cells of bone marrow. The affected bone marrow produces lower levels of different blood cells. Many of the cells produced by the bone marrow are abnormal and often undergo cell death sooner than normal. In some cases MDS may develop into an aggressive form of cancer called acute myeloid leukemia. MDS is of two types based on the cause of the condition. Primary MDS does not have a definitive cause for the syndrome while secondary MDS have a known cause. Secondary MDS is often treatment-related, particularly chemotherapy and radiotherapy used earlier for treating cancer. Around 13,000 new cases of MDS are reported each year and the number is increasing. MDS is associated with a number of risk factors like certain genetic conditions, exposure to certain chemicals, age, gender and radiation. It is more prevalent in people above 60 years and males are more predisposed to develop MDS when compared to females.

Anemia is one of the most common symptoms of MDS. Patients with this syndrome may present with fatigue, weakness and shortness of breath. They are susceptible to infections, bleeding and easy bruising. Blood cell tests and bone marrow tests are used to diagnose this syndrome. Difference in the number and structure of the different blood cells is indicative of MDS. Blasts produced by the bone marrow mature into normal blood cells. Blasts cells do not mature and presence of too many of blasts in the bone marrow is characteristic of MDS.

MDS is characterized by three factors – percentage of blasts, presence of abnormal chromosomes, and count of blood cells. Patients are categorized into four risk groups with high risk group with more serious disease. The main types of treatment used in this syndrome is supportive therapy and chemotherapy. Combination of cytarabine and anthracycline is used generally. Patients with mild to severe form of anemia is recommended blood cell transfusion. In patients with late stages of the disease, bone marrow transplantation may be suggested. This method is usually recommended for patients below 55 years and the procedure is limited if the patient’s age is above 60 years. There are no known preventive measures for the disease since the actual cause is not clearly defined. Controlling the risk factors is the most important way to control this syndrome. Avoiding exposure to dangerous chemicals and quitting smoking reduce the risk of developing MDS.

1. Besa EC. Myelodysplastic syndromes (refractory anemia). A perspective of the biologic, clinical, and therapeutic issues. Med Clin North Am. 1992;76(3):599-617.
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3. Goldberg H, Lusk E, Moore J, Nowell PC, Besa EC. Survey of exposure to genotoxic agents in primary myelodysplastic syndrome: correlation with chromosome patterns and data on patients without hematological disease. Cancer Res. Nov 1 1990;50(21):6876-6881.
4. Kristinsson SY, Bjorkholm M, Hultcrantz M, et al. Chronic immune stimulation might act as a trigger for the development of acute myeloid leukemia or myelodysplastic syndromes. J Clin Oncol. Jul 20 2011;29(21):2897-2903.
5. Sekeres MA. The epidemiology of myelodysplastic syndromes. Hematol Oncol Clin North Am. 2010;24(2):287-294.
6. Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 15 2007;109(8):1536-1542.
7. Ma X. Epidemiology of myelodysplastic syndromes. Am J Med. 2012;125(7 Suppl):S2-5.
8. Jädersten M. Pathophysiology and treatment of the myelodysplastic syndrome with isolated 5q deletion. Haematologica. 2010; 95(3): 348–351.
9. Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, et al. World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November. J Clin Oncol. 1999;17(12):3835-3849.
10. General Information About Myelodysplastic Syndromes. National Cancer Institute. Available athttp://www.cancer.gov/cancertopics/pdq/treatment/myelodysplastic/HealthProfessional/page1#Reference1.9.